ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for BRCA1

Gene summary

Gene information	Gene symbol	BRCA1
	Gene ID	672
	Gene name	BRCA1, DNA repair associated
	Synonyms	BRCAI\|BRCC1\|BROVCA1\|FANCS\|IRIS\|PNCA4\|PPP1R53\|PSCP\|RNF53
	Cytomap	17q21.31
	Type of gene	protein-coding
	Description	breast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer
	Modification date	20180527
	UniProtAcc	P38398
	Context	PubMed: BRCA1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
BRCA1	GO:0000724	double-strand break repair via homologous recombination	17349954
BRCA1	GO:0006301	postreplication repair	17349954
BRCA1	GO:0006302	double-strand break repair	22186889
BRCA1	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	14654789
BRCA1	GO:0016567	protein ubiquitination	17349954
BRCA1	GO:0031398	positive regulation of protein ubiquitination	15965487
BRCA1	GO:0035066	positive regulation of histone acetylation	20820192
BRCA1	GO:0043627	response to estrogen	8895509
BRCA1	GO:0045892	negative regulation of transcription, DNA-templated	16288014
BRCA1	GO:0045893	positive regulation of transcription, DNA-templated	20160719
BRCA1	GO:0045944	positive regulation of transcription by RNA polymerase II	16331276
BRCA1	GO:0051571	positive regulation of histone H3-K4 methylation	20820192
BRCA1	GO:0051573	negative regulation of histone H3-K9 methylation	20820192
BRCA1	GO:0051865	protein autoubiquitination	12890688\|20351172
BRCA1	GO:0070512	positive regulation of histone H4-K20 methylation	20820192
BRCA1	GO:0071158	positive regulation of cell cycle arrest	21102443
BRCA1	GO:0071681	cellular response to indole-3-methanol	10868478
BRCA1	GO:0085020	protein K6-linked ubiquitination	12890688\|20351172
BRCA1	GO:2000617	positive regulation of histone H3-K9 acetylation	20820192
BRCA1	GO:2000620	positive regulation of histone H4-K16 acetylation	20820192

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Exon skipping events across known transcript of Ensembl for BRCA1 from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Gene isoform structures and expression levels for BRCA1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for BRCA1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290173	17	41197694:41197819:41199659:41199720:41201137:41201211	41199659:41199720	ENSG00000012048.15	ENST00000591849.1,ENST00000352993.3,ENST00000493795.1,ENST00000346315.3,ENST00000309486.4,ENST00000351666.3,ENST00000491747.2,ENST00000586385.1,ENST00000354071.3,ENST00000461221.1,ENST00000591534.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290174	17	41199659:41199720:41201137:41201211:41203079:41203134	41201137:41201211	ENSG00000012048.15	ENST00000352993.3,ENST00000493795.1,ENST00000346315.3,ENST00000309486.4,ENST00000351666.3,ENST00000491747.2,ENST00000586385.1,ENST00000354071.3,ENST00000461221.1,ENST00000591534.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290177	17	41201137:41201211:41203079:41203134:41209068:41209152	41203079:41203134	ENSG00000012048.15	ENST00000352993.3,ENST00000493795.1,ENST00000346315.3,ENST00000309486.4,ENST00000351666.3,ENST00000491747.2,ENST00000586385.1,ENST00000354071.3,ENST00000461221.1,ENST00000591534.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290179	17	41215890:41215968:41219624:41219712:41222944:41223083	41219624:41219712	ENSG00000012048.15	ENST00000352993.3,ENST00000478531.1,ENST00000493795.1,ENST00000309486.4,ENST00000493919.1,ENST00000351666.3,ENST00000484087.1,ENST00000491747.2,ENST00000468300.1,ENST00000461221.1,ENST00000591534.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290181	17	41222944:41223255:41226347:41226538:41228504:41228628	41226347:41226538	ENSG00000012048.15	ENST00000352993.3,ENST00000478531.1,ENST00000493795.1,ENST00000309486.4,ENST00000493919.1,ENST00000351666.3,ENST00000484087.1,ENST00000491747.2,ENST00000468300.1,ENST00000461221.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290186	17	41226347:41226538:41228504:41228628:41234420:41234589	41228504:41228628	ENSG00000012048.15	ENST00000491747.2,ENST00000468300.1
exon_skip_290187	17	41226347:41226538:41228504:41228631:41234420:41234589	41228504:41228631	ENSG00000012048.15	ENST00000352993.3,ENST00000478531.1,ENST00000493795.1,ENST00000309486.4,ENST00000493919.1,ENST00000351666.3,ENST00000484087.1,ENST00000461221.1,ENST00000357654.3
exon_skip_290188	17	41228553:41228628:41231350:41231416:41234420:41234589	41231350:41231416	ENSG00000012048.15	ENST00000471181.2
exon_skip_290191	17	41242960:41243049:41243451:41246877:41247862:41247883	41243451:41246877	ENSG00000012048.15	ENST00000493795.1,ENST00000346315.3,ENST00000309486.4,ENST00000354071.3,ENST00000461221.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290193	17	41242960:41243049:41246760:41246877:41247862:41247883	41246760:41246877	ENSG00000012048.15	ENST00000478531.1,ENST00000493919.1,ENST00000491747.2,ENST00000468300.1
exon_skip_290194	17	41242960:41243049:41246760:41246877:41251791:41251897	41246760:41246877	ENSG00000012048.15	ENST00000487825.1,ENST00000484087.1
exon_skip_290196	17	41246760:41246877:41247862:41247939:41249260:41249306	41247862:41247939	ENSG00000012048.15	ENST00000478531.1,ENST00000470026.1,ENST00000493795.1,ENST00000346315.3,ENST00000309486.4,ENST00000493919.1,ENST00000491747.2,ENST00000492859.1,ENST00000468300.1,ENST00000477152.1,ENST00000494123.1,ENST00000354071.3,ENST00000461221.1,ENST00000467274.1,ENS
exon_skip_290200	17	41247862:41247939:41249260:41249306:41251791:41251894	41249260:41249306	ENSG00000012048.15	ENST00000352993.3,ENST00000478531.1,ENST00000470026.1,ENST00000493795.1,ENST00000346315.3,ENST00000309486.4,ENST00000493919.1,ENST00000491747.2,ENST00000492859.1,ENST00000468300.1,ENST00000477152.1,ENST00000494123.1,ENST00000354071.3,ENST00000461221.1,ENS
exon_skip_290201	17	41256884:41256973:41258472:41258550:41267742:41267796	41258472:41258550	ENSG00000012048.15	ENST00000352993.3,ENST00000478531.1,ENST00000470026.1,ENST00000346315.3,ENST00000351666.3,ENST00000491747.2,ENST00000468300.1,ENST00000494123.1,ENST00000354071.3,ENST00000467274.1,ENST00000476777.1,ENST00000357654.3,ENST00000471181.2
exon_skip_290202	17	41256884:41256973:41258494:41258550:41267742:41267796	41258494:41258550	ENSG00000012048.15	ENST00000461798.1,ENST00000461221.1
exon_skip_290203	17	41258494:41258550:41262481:41262597:41267742:41267796	41262481:41262597	ENSG00000012048.15	ENST00000492859.1
exon_skip_290204	17	41258494:41258550:41267742:41267796:41276033:41276132	41267742:41267796	ENSG00000012048.15	ENST00000352993.3,ENST00000478531.1,ENST00000470026.1,ENST00000346315.3,ENST00000351666.3,ENST00000491747.2,ENST00000468300.1,ENST00000461798.1,ENST00000494123.1,ENST00000354071.3,ENST00000461221.1,ENST00000467274.1,ENST00000476777.1,ENST00000357654.3,ENS
exon_skip_290209	17	41267742:41267796:41276033:41276132:41277287:41277317	41276033:41276132	ENSG00000012048.15	ENST00000352993.3,ENST00000492859.1,ENST00000477152.1,ENST00000354071.3,ENST00000467274.1,ENST00000476777.1,ENST00000471181.2
exon_skip_290210	17	41267742:41267796:41276033:41276132:41277293:41277373	41276033:41276132	ENSG00000012048.15	ENST00000478531.1,ENST00000346315.3,ENST00000491747.2,ENST00000468300.1,ENST00000461798.1,ENST00000494123.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for BRCA1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290173	17	41197694:41197819:41199659:41199720:41201137:41201211	41199659:41199720	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000352993.3,ENST00000346315.3,ENST00000351666.3,ENST00000309486.4,ENST00000586385.1,ENST00000591534.1,ENST00000591849.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2
exon_skip_290174	17	41199659:41199720:41201137:41201211:41203079:41203134	41201137:41201211	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000352993.3,ENST00000346315.3,ENST00000351666.3,ENST00000309486.4,ENST00000586385.1,ENST00000591534.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2
exon_skip_290177	17	41201137:41201211:41203079:41203134:41209068:41209152	41203079:41203134	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000352993.3,ENST00000346315.3,ENST00000351666.3,ENST00000309486.4,ENST00000586385.1,ENST00000591534.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2
exon_skip_290178	17	41215349:41215390:41215890:41215968:41234420:41234589	41215890:41215968	ENSG00000012048.15	ENST00000346315.3
exon_skip_290179	17	41215890:41215968:41219624:41219712:41222944:41223083	41219624:41219712	ENSG00000012048.15	ENST00000357654.3,ENST00000352993.3,ENST00000351666.3,ENST00000309486.4,ENST00000468300.1,ENST00000591534.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2,ENST00000484087.1,ENST00000478531.1,ENST00000493919.1
exon_skip_290181	17	41222944:41223255:41226347:41226538:41228504:41228628	41226347:41226538	ENSG00000012048.15	ENST00000357654.3,ENST00000352993.3,ENST00000351666.3,ENST00000309486.4,ENST00000468300.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2,ENST00000484087.1,ENST00000478531.1,ENST00000493919.1
exon_skip_290186	17	41226347:41226538:41228504:41228628:41234420:41234589	41228504:41228628	ENSG00000012048.15	ENST00000468300.1,ENST00000491747.2
exon_skip_290187	17	41226347:41226538:41228504:41228631:41234420:41234589	41228504:41228631	ENSG00000012048.15	ENST00000357654.3,ENST00000352993.3,ENST00000351666.3,ENST00000309486.4,ENST00000493795.1,ENST00000461221.1,ENST00000484087.1,ENST00000478531.1,ENST00000493919.1
exon_skip_290188	17	41228553:41228628:41231350:41231416:41234420:41234589	41231350:41231416	ENSG00000012048.15	ENST00000471181.2
exon_skip_290191	17	41242960:41243049:41243451:41246877:41247862:41247883	41243451:41246877	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000346315.3,ENST00000309486.4,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1
exon_skip_290193	17	41242960:41243049:41246760:41246877:41247862:41247883	41246760:41246877	ENSG00000012048.15	ENST00000468300.1,ENST00000491747.2,ENST00000478531.1,ENST00000493919.1
exon_skip_290194	17	41242960:41243049:41246760:41246877:41251791:41251897	41246760:41246877	ENSG00000012048.15	ENST00000484087.1,ENST00000487825.1
exon_skip_290196	17	41246760:41246877:41247862:41247939:41249260:41249306	41247862:41247939	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000346315.3,ENST00000309486.4,ENST00000468300.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2,ENST00000478531.1,ENST00000493919.1,ENST00000467274.1,ENST00000470026.1,ENST00000477152.1,ENS
exon_skip_290200	17	41247862:41247939:41249260:41249306:41251791:41251894	41249260:41249306	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000352993.3,ENST00000346315.3,ENST00000309486.4,ENST00000468300.1,ENST00000493795.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2,ENST00000478531.1,ENST00000493919.1,ENST00000467274.1,ENST00000470026.1,ENS
exon_skip_290201	17	41256884:41256973:41258472:41258550:41267742:41267796	41258472:41258550	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000352993.3,ENST00000346315.3,ENST00000351666.3,ENST00000468300.1,ENST00000471181.2,ENST00000491747.2,ENST00000478531.1,ENST00000467274.1,ENST00000470026.1,ENST00000494123.1,ENST00000476777.1
exon_skip_290202	17	41256884:41256973:41258494:41258550:41267742:41267796	41258494:41258550	ENSG00000012048.15	ENST00000461221.1,ENST00000461798.1
exon_skip_290203	17	41258494:41258550:41262481:41262597:41267742:41267796	41262481:41262597	ENSG00000012048.15	ENST00000492859.1
exon_skip_290204	17	41258494:41258550:41267742:41267796:41276033:41276132	41267742:41267796	ENSG00000012048.15	ENST00000357654.3,ENST00000354071.3,ENST00000352993.3,ENST00000346315.3,ENST00000351666.3,ENST00000468300.1,ENST00000471181.2,ENST00000461221.1,ENST00000491747.2,ENST00000478531.1,ENST00000467274.1,ENST00000470026.1,ENST00000494123.1,ENST00000476777.1,ENS
exon_skip_290209	17	41267742:41267796:41276033:41276132:41277287:41277317	41276033:41276132	ENSG00000012048.15	ENST00000354071.3,ENST00000352993.3,ENST00000471181.2,ENST00000467274.1,ENST00000477152.1,ENST00000492859.1,ENST00000476777.1
exon_skip_290210	17	41267742:41267796:41276033:41276132:41277293:41277373	41276033:41276132	ENSG00000012048.15	ENST00000346315.3,ENST00000468300.1,ENST00000491747.2,ENST00000478531.1,ENST00000494123.1,ENST00000461798.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for BRCA1

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000357654	41199659	41199720	Frame-shift
ENST00000357654	41201137	41201211	Frame-shift
ENST00000357654	41203079	41203134	Frame-shift
ENST00000357654	41219624	41219712	Frame-shift
ENST00000357654	41226347	41226538	Frame-shift
ENST00000357654	41228504	41228631	Frame-shift
ENST00000357654	41247862	41247939	Frame-shift
ENST00000357654	41249260	41249306	Frame-shift
ENST00000357654	41243451	41246877	In-frame
ENST00000357654	41258472	41258550	In-frame
ENST00000357654	41267742	41267796	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000357654	41199659	41199720	Frame-shift
ENST00000357654	41201137	41201211	Frame-shift
ENST00000357654	41203079	41203134	Frame-shift
ENST00000357654	41219624	41219712	Frame-shift
ENST00000357654	41226347	41226538	Frame-shift
ENST00000357654	41228504	41228631	Frame-shift
ENST00000357654	41247862	41247939	Frame-shift
ENST00000357654	41249260	41249306	Frame-shift
ENST00000357654	41243451	41246877	In-frame
ENST00000357654	41258472	41258550	In-frame
ENST00000357654	41267742	41267796	In-frame

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Infer the effects of exon skipping event on protein functional features for BRCA1

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000357654	7111	1863	41267742	41267796	200	253	27	44
ENST00000357654	7111	1863	41258472	41258550	254	331	45	70
ENST00000357654	7111	1863	41243451	41246877	790	4215	223	1365

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000357654	7111	1863	41267742	41267796	200	253	27	44
ENST00000357654	7111	1863	41258472	41258550	254	331	45	70
ENST00000357654	7111	1863	41243451	41246877	790	4215	223	1365

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P38398	27	44	1	47	Alternative sequence	ID=VSP_057569;Note=In isoform 8. Missing
P38398	27	44	25	27	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	27	44	1	1863	Chain	ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein
P38398	27	44	30	30	Natural variant	ID=VAR_035947;Note=In a breast cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P38398	27	44	24	65	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
P38398	45	70	1	47	Alternative sequence	ID=VSP_057569;Note=In isoform 8. Missing
P38398	45	70	64	1863	Alternative sequence	ID=VSP_047891;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
P38398	45	70	54	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	1	1863	Chain	ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein
P38398	45	70	46	53	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	45	45	Natural variant	ID=VAR_070459;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs769650474,PMID:23867111
P38398	45	70	61	61	Natural variant	ID=VAR_007757;Note=In BC and ovarian cancer%3B no interaction with BAP1. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12938098,ECO:0000269\|PubMed:14746861,ECO:0000269\|Pu
P38398	45	70	64	64	Natural variant	ID=VAR_007758;Note=In BC%3B no interaction with BAP1. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23867111,ECO:0000269\|PubMed:7894491,ECO:0000269\|PubMed:9482581,ECO:0000269\|PubMed:9528852;Dbxref=dbSNP:rs8
P38398	45	70	64	64	Natural variant	ID=VAR_007759;Note=C->Y;Dbxref=dbSNP:rs55851803
P38398	45	70	67	67	Natural variant	ID=VAR_070460;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357102,PMID:23867111
P38398	45	70	62	64	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	70	72	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	24	65	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
P38398	223	1365	64	1863	Alternative sequence	ID=VSP_047891;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
P38398	223	1365	224	1365	Alternative sequence	ID=VSP_035398;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P38398	223	1365	264	1366	Alternative sequence	ID=VSP_035399;Note=In isoform 3 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9010228;Dbxref=PMID:15489334,PMID:9010228
P38398	223	1365	1	1863	Chain	ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein
P38398	223	1365	651	654	Compositional bias	Note=Poly-Lys
P38398	223	1365	301	301	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	339	339	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMI
P38398	223	1365	443	443	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733
P38398	223	1365	459	459	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
P38398	223	1365	519	519	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	583	583	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMI
P38398	223	1365	654	654	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P38398	223	1365	734	734	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P38398	223	1365	739	739	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P38398	223	1365	918	918	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	987	987	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	1079	1079	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	308	308	Modified residue	Note=Phosphoserine%3B by AURKA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14990569;Dbxref=PMID:14990569
P38398	223	1365	395	395	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
P38398	223	1365	398	398	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
P38398	223	1365	423	423	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P38398	223	1365	434	434	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	551	551	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	694	694	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P38398	223	1365	708	708	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	725	725	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P48754
P38398	223	1365	753	753	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P38398	223	1365	840	840	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P48754
P38398	223	1365	988	988	Modified residue	Note=Phosphoserine%3B by CHEK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10724175,ECO:0000269\|PubMed:20364141;Dbxref=PMID:10724175,PMID:20364141
P38398	223	1365	1009	1009	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	1143	1143	Modified residue	Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1189	1189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	1191	1191	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	1211	1211	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P38398	223	1365	1217	1217	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P38398	223	1365	1218	1218	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
P38398	223	1365	1280	1280	Modified residue	Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1328	1328	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P38398	223	1365	1336	1336	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692
P38398	223	1365	1342	1342	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692
P38398	223	1365	308	308	Mutagenesis	Note=Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14990569;Dbxref=PMID:14990569
P38398	223	1365	1143	1143	Mutagenesis	Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1239	1239	Mutagenesis	Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1280	1280	Mutagenesis	Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1298	1298	Mutagenesis	Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1330	1330	Mutagenesis	Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	227	227	Natural variant	ID=VAR_008759;Note=In ovarian cancer%3B unknown pathological significance. E->K
P38398	223	1365	231	231	Natural variant	ID=VAR_070469;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357001,PMID:23867111
P38398	223	1365	239	239	Natural variant	ID=VAR_007760;Note=H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:9010228,ECO:0000269\|PubMed:9760198;Dbxref=dbSNP:rs80357396,PMID:9010228,PMID:9760198
P38398	223	1365	245	245	Natural variant	ID=VAR_070470;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80356865,PMID:23867111
P38398	223	1365	246	246	Natural variant	ID=VAR_070471;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897675,PMID:23867111
P38398	223	1365	271	271	Natural variant	ID=VAR_070472;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357244,PMID:23867111
P38398	223	1365	271	271	Natural variant	ID=VAR_007761;Note=In BC. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8723683;Dbxref=dbSNP:rs80357244,PMID:8723683
P38398	223	1365	275	275	Natural variant	ID=VAR_019944;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6;Dbxref=dbSNP:rs8176153
P38398	223	1365	346	346	Natural variant	ID=VAR_008760;Note=In BC%3B unknown pathological significance. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10323242;Dbxref=dbSNP:rs80357015,PMID:10323242
P38398	223	1365	356	356	Natural variant	ID=VAR_007762;Note=Common polymorphism. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7894493,ECO:0000269\|Ref.5,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs1799950,PMID:7894493
P38398	223	1365	369	369	Natural variant	ID=VAR_007763;Note=In BC. Missing
P38398	223	1365	379	379	Natural variant	ID=VAR_007764;Note=I->M;Dbxref=dbSNP:rs56128296
P38398	223	1365	461	461	Natural variant	ID=VAR_007765;Note=In BC. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs56046357,PMID:9609997
P38398	223	1365	465	465	Natural variant	ID=VAR_007766;Note=In BC. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397508869,PMID:9609997
P38398	223	1365	507	507	Natural variant	ID=VAR_007767;Note=Found in breast-ovarian cancer patients%3B unknown pathological significance. R->I;Dbxref=dbSNP:rs80357224
P38398	223	1365	552	552	Natural variant	ID=VAR_007768;Note=In BC. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397508893,PMID:9609997
P38398	223	1365	656	656	Natural variant	ID=VAR_020682;Note=N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12442274;Dbxref=PMID:12442274
P38398	223	1365	668	668	Natural variant	ID=VAR_070473;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357250,PMID:23867111
P38398	223	1365	693	693	Natural variant	ID=VAR_007769;Note=Rare polymorphism. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15026808,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs4986850,PMID:15026808
P38398	223	1365	695	695	Natural variant	ID=VAR_070474;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897681,PMID:23867111
P38398	223	1365	723	723	Natural variant	ID=VAR_020110;Note=N->D;Dbxref=dbSNP:rs4986845
P38398	223	1365	749	749	Natural variant	ID=VAR_020683;Note=In BC. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12442275;Dbxref=dbSNP:rs80357114,PMID:12442275
P38398	223	1365	758	758	Natural variant	ID=VAR_035948;Note=In a breast cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P38398	223	1365	772	772	Natural variant	ID=VAR_007770;Note=Rare polymorphism. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7894491,ECO:0000269\|PubMed:9482581;Dbxref=dbSNP:rs80357467,PMID:7894491,PMID:9482581
P38398	223	1365	778	778	Natural variant	ID=VAR_035949;Note=In a breast cancer sample%3B somatic mutation. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P38398	223	1365	798	798	Natural variant	ID=VAR_070475;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs876660005,PMID:23867111
P38398	223	1365	810	810	Natural variant	ID=VAR_070476;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897682,PMID:23867111
P38398	223	1365	820	820	Natural variant	ID=VAR_007771;Note=Rare polymorphism. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9482581;Dbxref=dbSNP:rs56082113,PMID:9482581
P38398	223	1365	826	826	Natural variant	ID=VAR_007772;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897683,PMID:23867111
P38398	223	1365	835	835	Natural variant	ID=VAR_020684;Note=In BROVCA1%3B unknown pathological significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs751656678,PMID:12938098
P38398	223	1365	841	841	Natural variant	ID=VAR_070477;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357337,PMID:23867111
P38398	223	1365	841	841	Natural variant	ID=VAR_007773;Note=In BROVCA1%3B unknown pathological significance. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8968716,ECO:0000269\|PubMed:9760198;Dbxref=dbSNP:rs1800709,PMID:8968716,PMID:9760198
P38398	223	1365	856	856	Natural variant	ID=VAR_020685;Note=In a patient with sporadic breast cancer%3B unknown pathological significance. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80356892,PMID:15365993,PMID:238671
P38398	223	1365	866	866	Natural variant	ID=VAR_070478;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs41286300,PMID:23867111
P38398	223	1365	866	866	Natural variant	ID=VAR_020686;Note=In BC%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=PMID:12938098
P38398	223	1365	871	871	Natural variant	ID=VAR_007774;Note=Common polymorphism. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10323242,ECO:0000269\|PubMed:12442274,ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref
P38398	223	1365	888	888	Natural variant	ID=VAR_020687;Note=In BC%3B unknown pathological significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs80357480,PMID:12938098
P38398	223	1365	892	892	Natural variant	ID=VAR_007775;Note=In BC. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397508994,PMID:9609997
P38398	223	1365	903	1863	Natural variant	ID=VAR_080693;Note=In FANCS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29133208;Dbxref=PMID:29133208
P38398	223	1365	925	925	Natural variant	ID=VAR_021913;Note=I->L;Dbxref=dbSNP:rs4986847
P38398	223	1365	960	960	Natural variant	ID=VAR_007776;Note=In BC. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397509022,PMID:9609997
P38398	223	1365	989	989	Natural variant	ID=VAR_020111;Note=F->S;Dbxref=dbSNP:rs4986848
P38398	223	1365	1008	1008	Natural variant	ID=VAR_007777;Note=Common polymorphism. M->I;Dbxref=dbSNP:rs1800704
P38398	223	1365	1025	1025	Natural variant	ID=VAR_007778;Note=In BC. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397509034,PMID:9609997
P38398	223	1365	1038	1038	Natural variant	ID=VAR_007779;Note=Common polymorphism. E->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10323242,ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:7894493,ECO:0000269\|Ref.
P38398	223	1365	1040	1040	Natural variant	ID=VAR_007780;Note=Rare polymorphism. S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15026808,ECO:0000269\|PubMed:7894491,ECO:0000269\|PubMed:7894493,ECO:0000269\|PubMed:9482581,ECO:0000269\|Ref.6;Db
P38398	223	1365	1047	1047	Natural variant	ID=VAR_007781;Note=In BC. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397509037,PMID:9609997
P38398	223	1365	1060	1060	Natural variant	ID=VAR_020688;Note=E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15026808,ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357184,PMID:15026808,PMID:23867111
P38398	223	1365	1101	1101	Natural variant	ID=VAR_070479;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs41293447,PMID:23867111
P38398	223	1365	1139	1139	Natural variant	ID=VAR_020689;Note=In BC%3B unknown pathological significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs80357228,PMID:12938098
P38398	223	1365	1140	1140	Natural variant	ID=VAR_019945;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23867111,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs2227945,PMID:23867111
P38398	223	1365	1140	1140	Natural variant	ID=VAR_070480;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=PMID:23867111
P38398	223	1365	1150	1150	Natural variant	ID=VAR_007782;Note=In BC. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8723683;Dbxref=dbSNP:rs80357272,PMID:8723683
P38398	223	1365	1183	1183	Natural variant	ID=VAR_007783;Note=Common polymorphism. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10323242,ECO:0000269\|PubMed:14722926,ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:15489334,ECO
P38398	223	1365	1187	1187	Natural variant	ID=VAR_020690;Note=In BC and BROVCA1. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1200	1200	Natural variant	ID=VAR_020691;Note=In BC and BROVCA1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=dbSNP:rs56214134,PMID:14722926
P38398	223	1365	1204	1204	Natural variant	ID=VAR_020692;Note=In BC. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1207	1207	Natural variant	ID=VAR_020693;Note=In BC. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1210	1210	Natural variant	ID=VAR_020694;Note=In BC%3B unknown pathological significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs1060502347,PMID:12938098
P38398	223	1365	1214	1214	Natural variant	ID=VAR_070481;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80356923,PMID:23867111
P38398	223	1365	1217	1217	Natural variant	ID=VAR_020695;Note=In BC and BROVCA1. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1219	1219	Natural variant	ID=VAR_007784;Note=Found in breast-ovarian cancer patients%3B unknown pathological significance. E->D;Dbxref=dbSNP:rs80356876
P38398	223	1365	1226	1226	Natural variant	ID=VAR_020696;Note=In BROVCA1. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1236	1236	Natural variant	ID=VAR_052078;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897687,PMID:23867111
P38398	223	1365	1243	1243	Natural variant	ID=VAR_020697;Note=In BROVCA1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1250	1250	Natural variant	ID=VAR_052079;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897686,PMID:23867111
P38398	223	1365	1267	1267	Natural variant	ID=VAR_070482;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs587782190,PMID:23867111
P38398	223	1365	1282	1282	Natural variant	ID=VAR_070483;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357217,PMID:23867111
P38398	223	1365	1297	1297	Natural variant	ID=VAR_020698;Note=In BC%3B unknown pathological significance. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=PMID:12938098
P38398	223	1365	1297	1297	Natural variant	ID=VAR_070484;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=PMID:23867111
P38398	223	1365	1301	1301	Natural variant	ID=VAR_070485;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs273900719,PMID:23867111
P38398	223	1365	1346	1346	Natural variant	ID=VAR_070486;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357407,PMID:23867111
P38398	223	1365	1347	1347	Natural variant	ID=VAR_007785;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12215251;Dbxref=dbSNP:rs28897689,PMID:12215251
P38398	223	1365	253	253	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P38398	223	1365	713	713	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P38398	223	1365	1077	1077	Sequence conflict	Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P38398	27	44	1	47	Alternative sequence	ID=VSP_057569;Note=In isoform 8. Missing
P38398	27	44	25	27	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	27	44	1	1863	Chain	ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein
P38398	27	44	30	30	Natural variant	ID=VAR_035947;Note=In a breast cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P38398	27	44	24	65	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
P38398	45	70	1	47	Alternative sequence	ID=VSP_057569;Note=In isoform 8. Missing
P38398	45	70	64	1863	Alternative sequence	ID=VSP_047891;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
P38398	45	70	54	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	1	1863	Chain	ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein
P38398	45	70	46	53	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	45	45	Natural variant	ID=VAR_070459;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs769650474,PMID:23867111
P38398	45	70	61	61	Natural variant	ID=VAR_007757;Note=In BC and ovarian cancer%3B no interaction with BAP1. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12938098,ECO:0000269\|PubMed:14746861,ECO:0000269\|Pu
P38398	45	70	64	64	Natural variant	ID=VAR_007758;Note=In BC%3B no interaction with BAP1. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23867111,ECO:0000269\|PubMed:7894491,ECO:0000269\|PubMed:9482581,ECO:0000269\|PubMed:9528852;Dbxref=dbSNP:rs8
P38398	45	70	64	64	Natural variant	ID=VAR_007759;Note=C->Y;Dbxref=dbSNP:rs55851803
P38398	45	70	67	67	Natural variant	ID=VAR_070460;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357102,PMID:23867111
P38398	45	70	62	64	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	70	72	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JM7
P38398	45	70	24	65	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
P38398	223	1365	64	1863	Alternative sequence	ID=VSP_047891;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
P38398	223	1365	224	1365	Alternative sequence	ID=VSP_035398;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P38398	223	1365	264	1366	Alternative sequence	ID=VSP_035399;Note=In isoform 3 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9010228;Dbxref=PMID:15489334,PMID:9010228
P38398	223	1365	1	1863	Chain	ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein
P38398	223	1365	651	654	Compositional bias	Note=Poly-Lys
P38398	223	1365	301	301	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	339	339	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMI
P38398	223	1365	443	443	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733
P38398	223	1365	459	459	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
P38398	223	1365	519	519	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	583	583	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMI
P38398	223	1365	654	654	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P38398	223	1365	734	734	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P38398	223	1365	739	739	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P38398	223	1365	918	918	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	987	987	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	1079	1079	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P38398	223	1365	308	308	Modified residue	Note=Phosphoserine%3B by AURKA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14990569;Dbxref=PMID:14990569
P38398	223	1365	395	395	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
P38398	223	1365	398	398	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
P38398	223	1365	423	423	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P38398	223	1365	434	434	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	551	551	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	694	694	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P38398	223	1365	708	708	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	725	725	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P48754
P38398	223	1365	753	753	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P38398	223	1365	840	840	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P48754
P38398	223	1365	988	988	Modified residue	Note=Phosphoserine%3B by CHEK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10724175,ECO:0000269\|PubMed:20364141;Dbxref=PMID:10724175,PMID:20364141
P38398	223	1365	1009	1009	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	1143	1143	Modified residue	Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1189	1189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	1191	1191	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P38398	223	1365	1211	1211	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P38398	223	1365	1217	1217	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P38398	223	1365	1218	1218	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
P38398	223	1365	1280	1280	Modified residue	Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1328	1328	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P38398	223	1365	1336	1336	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692
P38398	223	1365	1342	1342	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692
P38398	223	1365	308	308	Mutagenesis	Note=Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14990569;Dbxref=PMID:14990569
P38398	223	1365	1143	1143	Mutagenesis	Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1239	1239	Mutagenesis	Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1280	1280	Mutagenesis	Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1298	1298	Mutagenesis	Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	1330	1330	Mutagenesis	Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11114888;Dbxref=PMID:11114888
P38398	223	1365	227	227	Natural variant	ID=VAR_008759;Note=In ovarian cancer%3B unknown pathological significance. E->K
P38398	223	1365	231	231	Natural variant	ID=VAR_070469;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357001,PMID:23867111
P38398	223	1365	239	239	Natural variant	ID=VAR_007760;Note=H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:9010228,ECO:0000269\|PubMed:9760198;Dbxref=dbSNP:rs80357396,PMID:9010228,PMID:9760198
P38398	223	1365	245	245	Natural variant	ID=VAR_070470;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80356865,PMID:23867111
P38398	223	1365	246	246	Natural variant	ID=VAR_070471;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897675,PMID:23867111
P38398	223	1365	271	271	Natural variant	ID=VAR_070472;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357244,PMID:23867111
P38398	223	1365	271	271	Natural variant	ID=VAR_007761;Note=In BC. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8723683;Dbxref=dbSNP:rs80357244,PMID:8723683
P38398	223	1365	275	275	Natural variant	ID=VAR_019944;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6;Dbxref=dbSNP:rs8176153
P38398	223	1365	346	346	Natural variant	ID=VAR_008760;Note=In BC%3B unknown pathological significance. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10323242;Dbxref=dbSNP:rs80357015,PMID:10323242
P38398	223	1365	356	356	Natural variant	ID=VAR_007762;Note=Common polymorphism. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7894493,ECO:0000269\|Ref.5,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs1799950,PMID:7894493
P38398	223	1365	369	369	Natural variant	ID=VAR_007763;Note=In BC. Missing
P38398	223	1365	379	379	Natural variant	ID=VAR_007764;Note=I->M;Dbxref=dbSNP:rs56128296
P38398	223	1365	461	461	Natural variant	ID=VAR_007765;Note=In BC. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs56046357,PMID:9609997
P38398	223	1365	465	465	Natural variant	ID=VAR_007766;Note=In BC. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397508869,PMID:9609997
P38398	223	1365	507	507	Natural variant	ID=VAR_007767;Note=Found in breast-ovarian cancer patients%3B unknown pathological significance. R->I;Dbxref=dbSNP:rs80357224
P38398	223	1365	552	552	Natural variant	ID=VAR_007768;Note=In BC. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397508893,PMID:9609997
P38398	223	1365	656	656	Natural variant	ID=VAR_020682;Note=N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12442274;Dbxref=PMID:12442274
P38398	223	1365	668	668	Natural variant	ID=VAR_070473;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357250,PMID:23867111
P38398	223	1365	693	693	Natural variant	ID=VAR_007769;Note=Rare polymorphism. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15026808,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs4986850,PMID:15026808
P38398	223	1365	695	695	Natural variant	ID=VAR_070474;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897681,PMID:23867111
P38398	223	1365	723	723	Natural variant	ID=VAR_020110;Note=N->D;Dbxref=dbSNP:rs4986845
P38398	223	1365	749	749	Natural variant	ID=VAR_020683;Note=In BC. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12442275;Dbxref=dbSNP:rs80357114,PMID:12442275
P38398	223	1365	758	758	Natural variant	ID=VAR_035948;Note=In a breast cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P38398	223	1365	772	772	Natural variant	ID=VAR_007770;Note=Rare polymorphism. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7894491,ECO:0000269\|PubMed:9482581;Dbxref=dbSNP:rs80357467,PMID:7894491,PMID:9482581
P38398	223	1365	778	778	Natural variant	ID=VAR_035949;Note=In a breast cancer sample%3B somatic mutation. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
P38398	223	1365	798	798	Natural variant	ID=VAR_070475;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs876660005,PMID:23867111
P38398	223	1365	810	810	Natural variant	ID=VAR_070476;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897682,PMID:23867111
P38398	223	1365	820	820	Natural variant	ID=VAR_007771;Note=Rare polymorphism. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9482581;Dbxref=dbSNP:rs56082113,PMID:9482581
P38398	223	1365	826	826	Natural variant	ID=VAR_007772;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897683,PMID:23867111
P38398	223	1365	835	835	Natural variant	ID=VAR_020684;Note=In BROVCA1%3B unknown pathological significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs751656678,PMID:12938098
P38398	223	1365	841	841	Natural variant	ID=VAR_070477;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357337,PMID:23867111
P38398	223	1365	841	841	Natural variant	ID=VAR_007773;Note=In BROVCA1%3B unknown pathological significance. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8968716,ECO:0000269\|PubMed:9760198;Dbxref=dbSNP:rs1800709,PMID:8968716,PMID:9760198
P38398	223	1365	856	856	Natural variant	ID=VAR_020685;Note=In a patient with sporadic breast cancer%3B unknown pathological significance. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80356892,PMID:15365993,PMID:238671
P38398	223	1365	866	866	Natural variant	ID=VAR_070478;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs41286300,PMID:23867111
P38398	223	1365	866	866	Natural variant	ID=VAR_020686;Note=In BC%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=PMID:12938098
P38398	223	1365	871	871	Natural variant	ID=VAR_007774;Note=Common polymorphism. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10323242,ECO:0000269\|PubMed:12442274,ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref
P38398	223	1365	888	888	Natural variant	ID=VAR_020687;Note=In BC%3B unknown pathological significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs80357480,PMID:12938098
P38398	223	1365	892	892	Natural variant	ID=VAR_007775;Note=In BC. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397508994,PMID:9609997
P38398	223	1365	903	1863	Natural variant	ID=VAR_080693;Note=In FANCS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29133208;Dbxref=PMID:29133208
P38398	223	1365	925	925	Natural variant	ID=VAR_021913;Note=I->L;Dbxref=dbSNP:rs4986847
P38398	223	1365	960	960	Natural variant	ID=VAR_007776;Note=In BC. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397509022,PMID:9609997
P38398	223	1365	989	989	Natural variant	ID=VAR_020111;Note=F->S;Dbxref=dbSNP:rs4986848
P38398	223	1365	1008	1008	Natural variant	ID=VAR_007777;Note=Common polymorphism. M->I;Dbxref=dbSNP:rs1800704
P38398	223	1365	1025	1025	Natural variant	ID=VAR_007778;Note=In BC. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397509034,PMID:9609997
P38398	223	1365	1038	1038	Natural variant	ID=VAR_007779;Note=Common polymorphism. E->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10323242,ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:7894493,ECO:0000269\|Ref.
P38398	223	1365	1040	1040	Natural variant	ID=VAR_007780;Note=Rare polymorphism. S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15026808,ECO:0000269\|PubMed:7894491,ECO:0000269\|PubMed:7894493,ECO:0000269\|PubMed:9482581,ECO:0000269\|Ref.6;Db
P38398	223	1365	1047	1047	Natural variant	ID=VAR_007781;Note=In BC. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9609997;Dbxref=dbSNP:rs397509037,PMID:9609997
P38398	223	1365	1060	1060	Natural variant	ID=VAR_020688;Note=E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15026808,ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357184,PMID:15026808,PMID:23867111
P38398	223	1365	1101	1101	Natural variant	ID=VAR_070479;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs41293447,PMID:23867111
P38398	223	1365	1139	1139	Natural variant	ID=VAR_020689;Note=In BC%3B unknown pathological significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs80357228,PMID:12938098
P38398	223	1365	1140	1140	Natural variant	ID=VAR_019945;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23867111,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs2227945,PMID:23867111
P38398	223	1365	1140	1140	Natural variant	ID=VAR_070480;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=PMID:23867111
P38398	223	1365	1150	1150	Natural variant	ID=VAR_007782;Note=In BC. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8723683;Dbxref=dbSNP:rs80357272,PMID:8723683
P38398	223	1365	1183	1183	Natural variant	ID=VAR_007783;Note=Common polymorphism. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10323242,ECO:0000269\|PubMed:14722926,ECO:0000269\|PubMed:15365993,ECO:0000269\|PubMed:15489334,ECO
P38398	223	1365	1187	1187	Natural variant	ID=VAR_020690;Note=In BC and BROVCA1. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1200	1200	Natural variant	ID=VAR_020691;Note=In BC and BROVCA1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=dbSNP:rs56214134,PMID:14722926
P38398	223	1365	1204	1204	Natural variant	ID=VAR_020692;Note=In BC. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1207	1207	Natural variant	ID=VAR_020693;Note=In BC. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1210	1210	Natural variant	ID=VAR_020694;Note=In BC%3B unknown pathological significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=dbSNP:rs1060502347,PMID:12938098
P38398	223	1365	1214	1214	Natural variant	ID=VAR_070481;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80356923,PMID:23867111
P38398	223	1365	1217	1217	Natural variant	ID=VAR_020695;Note=In BC and BROVCA1. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1219	1219	Natural variant	ID=VAR_007784;Note=Found in breast-ovarian cancer patients%3B unknown pathological significance. E->D;Dbxref=dbSNP:rs80356876
P38398	223	1365	1226	1226	Natural variant	ID=VAR_020696;Note=In BROVCA1. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1236	1236	Natural variant	ID=VAR_052078;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897687,PMID:23867111
P38398	223	1365	1243	1243	Natural variant	ID=VAR_020697;Note=In BROVCA1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14722926;Dbxref=PMID:14722926
P38398	223	1365	1250	1250	Natural variant	ID=VAR_052079;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs28897686,PMID:23867111
P38398	223	1365	1267	1267	Natural variant	ID=VAR_070482;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs587782190,PMID:23867111
P38398	223	1365	1282	1282	Natural variant	ID=VAR_070483;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357217,PMID:23867111
P38398	223	1365	1297	1297	Natural variant	ID=VAR_020698;Note=In BC%3B unknown pathological significance. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12938098;Dbxref=PMID:12938098
P38398	223	1365	1297	1297	Natural variant	ID=VAR_070484;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=PMID:23867111
P38398	223	1365	1301	1301	Natural variant	ID=VAR_070485;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs273900719,PMID:23867111
P38398	223	1365	1346	1346	Natural variant	ID=VAR_070486;Note=In BC%3B unknown pathological significance%3B functionally neutral in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23867111;Dbxref=dbSNP:rs80357407,PMID:23867111
P38398	223	1365	1347	1347	Natural variant	ID=VAR_007785;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12215251;Dbxref=dbSNP:rs28897689,PMID:12215251
P38398	223	1365	253	253	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P38398	223	1365	713	713	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P38398	223	1365	1077	1077	Sequence conflict	Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305

Top

SNVs in the skipped exons for BRCA1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

BRCA1_BRCA_exon_skip_290191_psi_boxplot.png
boxplot

BRCA1_READ_exon_skip_290191_psi_boxplot.png
boxplot

BRCA1_SKCM_exon_skip_290191_psi_boxplot.png
boxplot

BRCA1_STAD_exon_skip_290191_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_290179	41219625	41219712	41219686	41219686	Frame_Shift_Del	T	-	p.H1693fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_290179	41219625	41219712	41219686	41219686	Frame_Shift_Del	T	-	p.K1375fs
LIHC	TCGA-DD-A39Y-01	exon_skip_290191	41243452	41246877	41243622	41243622	Frame_Shift_Del	T	-	p.N1013fs
KIRP	TCGA-SX-A71S-01	exon_skip_290191	41243452	41246877	41243848	41243848	Frame_Shift_Del	C	-	p.V1234fs
LIHC	TCGA-DD-A1EG-01	exon_skip_290191	41243452	41246877	41243876	41243876	Frame_Shift_Del	G	-	p.P928fs
LIHC	TCGA-DD-A1EG-01	exon_skip_290191	41243452	41246877	41244434	41244434	Frame_Shift_Del	T	-	p.E742fs
SKCM	TCGA-ER-A19G-06	exon_skip_290191	41243452	41246877	41244539	41244540	Frame_Shift_Del	AA	-	p.1003_1004del
SKCM	TCGA-ER-A19G-06	exon_skip_290191	41243452	41246877	41244539	41244540	Frame_Shift_Del	AA	-	p.F707fs
LIHC	TCGA-DD-A39Y-01	exon_skip_290191	41243452	41246877	41244581	41244581	Frame_Shift_Del	A	-	p.F693fs
LIHC	TCGA-DD-A39Y-01	exon_skip_290191	41243452	41246877	41244816	41244816	Frame_Shift_Del	C	-	p.G615fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_290191	41243452	41246877	41244870	41244870	Frame_Shift_Del	T	-	p.K598fs
BRCA	TCGA-A7-A26H-01	exon_skip_290191	41243452	41246877	41245484	41245487	Frame_Shift_Del	TGTC	-	p.T688fs
UCEC	TCGA-D1-A17U-01	exon_skip_290191	41243452	41246877	41245587	41245587	Frame_Shift_Del	T	-	p.K654fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_290191	41243452	41246877	41245820	41245820	Frame_Shift_Del	T	-	p.K280fs
LIHC	TCGA-DD-A39Y-01	exon_skip_290191	41243452	41246877	41246109	41246109	Frame_Shift_Del	T	-	p.N184fs
STAD	TCGA-BR-4362-01	exon_skip_290191	41243452	41246877	41246532	41246532	Frame_Shift_Del	T	-	p.K339fs
STAD	TCGA-BR-7851-01	exon_skip_290191	41243452	41246877	41246532	41246532	Frame_Shift_Del	T	-	p.K339fs
BRCA	TCGA-B6-A0X1-01	exon_skip_290210 exon_skip_290209	41276034	41276132	41276047	41276047	Frame_Shift_Del	C	-	p.E23fs
OV	TCGA-13-1489-01	exon_skip_290191	41243452	41246877	41243753	41243754	Frame_Shift_Ins	-	TT	p.N1265fs
UCEC	TCGA-AP-A0LH-01	exon_skip_290191	41243452	41246877	41243931	41243932	Frame_Shift_Ins	-	C	p.A1206fs
LIHC	TCGA-BC-A112-01	exon_skip_290191	41243452	41246877	41244016	41244017	Frame_Shift_Ins	-	A	p.LQ881fs
LIHC	TCGA-BC-A112-01	exon_skip_290191	41243452	41246877	41244052	41244053	Frame_Shift_Ins	-	A	p.*870fs
BRCA	TCGA-AR-A0U4-01	exon_skip_290191	41243452	41246877	41244185	41244186	Frame_Shift_Ins	-	T	p.N1121fs
COAD	TCGA-F4-6570-01	exon_skip_290191	41243452	41246877	41245332	41245333	Frame_Shift_Ins	-	TA	p.K739fs
LIHC	TCGA-BC-A112-01	exon_skip_290191	41243452	41246877	41246531	41246532	Frame_Shift_Ins	-	T	p.S43fs
LUAD	TCGA-55-8208-01	exon_skip_290179	41219625	41219712	41219652	41219652	Nonsense_Mutation	C	A	p.E1387*
OV	TCGA-04-1357-01	exon_skip_290181	41226348	41226538	41226411	41226411	Nonsense_Mutation	G	A	p.Q1538*
BLCA	TCGA-G2-A2EL-01	exon_skip_290191	41243452	41246877	41243707	41243707	Nonsense_Mutation	G	A	p.Q985*
LUAD	TCGA-55-8620-01	exon_skip_290191	41243452	41246877	41243908	41243908	Nonsense_Mutation	C	A	p.E918*
LUSC	TCGA-46-3769-01	exon_skip_290191	41243452	41246877	41244070	41244070	Nonsense_Mutation	T	A	p.K1160*
LUAD	TCGA-17-Z042-01	exon_skip_290191	41243452	41246877	41244214	41244214	Nonsense_Mutation	C	A	p.E816*
BLCA	TCGA-PQ-A6FN-01	exon_skip_290191	41243452	41246877	41244538	41244538	Nonsense_Mutation	C	A	p.E708*
BRCA	TCGA-A1-A0SH-01	exon_skip_290191	41243452	41246877	41244748	41244748	Nonsense_Mutation	G	A	p.Q934*
PAAD	TCGA-XN-A8T3-01	exon_skip_290191	41243452	41246877	41244838	41244838	Nonsense_Mutation	C	A	p.E904X
UCEC	TCGA-AX-A0J0-01	exon_skip_290191	41243452	41246877	41245531	41245531	Nonsense_Mutation	C	A	p.E673*
BLCA	TCGA-ZF-AA4W-01	exon_skip_290191	41243452	41246877	41245549	41245549	Nonsense_Mutation	G	A	p.Q371*
READ	TCGA-F5-6814-01	exon_skip_290191	41243452	41246877	41245834	41245834	Nonsense_Mutation	C	A	p.E572X
LUAD	TCGA-44-8117-01	exon_skip_290191	41243452	41246877	41245945	41245945	Nonsense_Mutation	C	A	p.G239*
OV	TCGA-29-2427-01	exon_skip_290191	41243452	41246877	41246256	41246256	Nonsense_Mutation	A	C	p.L431*
SKCM	TCGA-EE-A20C-06	exon_skip_290196	41247863	41247939	41247929	41247929	Nonsense_Mutation	G	A	p.Q202*
UCEC	TCGA-BS-A0UF-01	exon_skip_290174	41201138	41201211	41201212	41201212	Splice_Site	C	A	e20-1
BRCA	TCGA-A1-A0SO-01	exon_skip_290210 exon_skip_290209	41276034	41276132	41276033	41276033	Splice_Site	C	T	e1+1

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-A1-A0SO-01
	Cancer type: BRCA
	ESID: exon_skip_290209
	Skipped exon start: 41276034
	Skipped exon end: 41276132
	Mutation start: 41276033
	Mutation end: 41276033
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e1+1
exon_skip_290209_BRCA_TCGA-A1-A0SO-01.png
exon_skip_290210_BRCA_TCGA-A1-A0SO-01.png
	Sample: TCGA-A1-A0SO-01
	Cancer type: BRCA
	ESID: exon_skip_290209
	Skipped exon start: 41276034
	Skipped exon end: 41276132
	Mutation start: 41276033
	Mutation end: 41276033
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e1+1
exon_skip_290209_BRCA_TCGA-A1-A0SO-01.png
exon_skip_290210_BRCA_TCGA-A1-A0SO-01.png
	Sample: TCGA-44-8117-01
	Cancer type: LUAD
	ESID: exon_skip_290191
	Skipped exon start: 41243452
	Skipped exon end: 41246877
	Mutation start: 41245945
	Mutation end: 41245945
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.G239*
exon_skip_290191_LUAD_TCGA-44-8117-01.png
exon_skip_7979_LUAD_TCGA-44-8117-01.png
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_290191
	Skipped exon start: 41243452
	Skipped exon end: 41246877
	Mutation start: 41245834
	Mutation end: 41245834
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E572X
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.png
	Sample: TCGA-A7-A26H-01
	Cancer type: BRCA
	ESID: exon_skip_290191
	Skipped exon start: 41243452
	Skipped exon end: 41246877
	Mutation start: 41245484
	Mutation end: 41245487
	Mutation type: Frame_Shift_Del
	Reference seq: TGTC
	Mutation seq: -
	AAchange: p.T688fs
exon_skip_290191_BRCA_TCGA-A7-A26H-01.png
	Sample: TCGA-ER-A19G-06
	Cancer type: SKCM
	ESID: exon_skip_290191
	Skipped exon start: 41243452
	Skipped exon end: 41246877
	Mutation start: 41244539
	Mutation end: 41244540
	Mutation type: Frame_Shift_Del
	Reference seq: AA
	Mutation seq: -
	AAchange: p.1003_1004del
	Sample: TCGA-ER-A19G-06
	Cancer type: SKCM
	ESID: exon_skip_290191
	Skipped exon start: 41243452
	Skipped exon end: 41246877
	Mutation start: 41244539
	Mutation end: 41244540
	Mutation type: Frame_Shift_Del
	Reference seq: AA
	Mutation seq: -
	AAchange: p.F707fs
exon_skip_290191_SKCM_TCGA-ER-A19G-06.png
exon_skip_7843_SKCM_TCGA-ER-A19G-06.png
	Sample: TCGA-BR-7851-01
	Cancer type: STAD
	ESID: exon_skip_290191
	Skipped exon start: 41243452
	Skipped exon end: 41246877
	Mutation start: 41246532
	Mutation end: 41246532
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K339fs
exon_skip_290191_STAD_TCGA-BR-7851-01.png
exon_skip_308974_STAD_TCGA-BR-7851-01.png
exon_skip_313700_STAD_TCGA-BR-7851-01.png
exon_skip_319706_STAD_TCGA-BR-7851-01.png
exon_skip_385593_STAD_TCGA-BR-7851-01.png
exon_skip_441654_STAD_TCGA-BR-7851-01.png
exon_skip_507416_STAD_TCGA-BR-7851-01.png
exon_skip_7378_STAD_TCGA-BR-7851-01.png
exon_skip_96939_STAD_TCGA-BR-7851-01.png

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
HCC1954_BREAST	41199660	41199720	41199701	41199702	Frame_Shift_Del	AC	-	p.V1810fs
JHOS3_OVARY	41243452	41246877	41243932	41243945	Frame_Shift_Del	CCCCTCTTCGGTAA	-	p.YRRGA1202fs
HEC59_ENDOMETRIUM	41243452	41246877	41244311	41244311	Frame_Shift_Del	T	-	p.K1079fs
UWB1289_OVARY	41243452	41246877	41245073	41245073	Frame_Shift_Del	G	-	p.D825fs
NCIH513_PLEURA	41243452	41246877	41245080	41245080	Frame_Shift_Del	C	-	p.R823fs
SUM149PT_BREAST	41243452	41246877	41245379	41245379	Frame_Shift_Del	A	-	p.N723fs
SNUC4_LARGE_INTESTINE	41243452	41246877	41245587	41245587	Frame_Shift_Del	T	-	p.K654fs
IGROV1_OVARY	41243452	41246877	41245587	41245587	Frame_Shift_Del	T	-	p.K654fs
LN382_CENTRAL_NERVOUS_SYSTEM	41243452	41246877	41246753	41246754	Frame_Shift_Del	AG	-	p.S265fs
SCLC22H_LUNG	41243452	41246877	41245670	41245671	Frame_Shift_Ins	-	ACTA	p.-626fs
SCLC21H_LUNG	41243452	41246877	41245670	41245671	Frame_Shift_Ins	-	ACTA	p.-626fs
NCIH727_LUNG	41199660	41199720	41199682	41199682	Missense_Mutation	C	G	p.W1815C
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41203080	41203134	41203127	41203127	Missense_Mutation	C	T	p.R1762K
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41219625	41219712	41219631	41219631	Missense_Mutation	T	G	p.K1690Q
253J_URINARY_TRACT	41219625	41219712	41219640	41219640	Missense_Mutation	C	A	p.V1687F
253JBV_URINARY_TRACT	41219625	41219712	41219640	41219640	Missense_Mutation	C	A	p.V1687F
SNU1214_UPPER_AERODIGESTIVE_TRACT	41219625	41219712	41219652	41219652	Missense_Mutation	C	G	p.E1683Q
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41226348	41226538	41226380	41226380	Missense_Mutation	G	A	p.T1548M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41226348	41226538	41226510	41226510	Missense_Mutation	C	T	p.D1505N
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41228505	41228631	41228547	41228547	Missense_Mutation	G	A	p.A1481V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41228505	41228628	41228547	41228547	Missense_Mutation	G	A	p.A1481V
HEC108_ENDOMETRIUM	41243452	41246877	41243578	41243578	Missense_Mutation	T	C	p.M1324V
NCIH2172_LUNG	41243452	41246877	41243651	41243651	Missense_Mutation	C	G	p.Q1299H
HEC59_ENDOMETRIUM	41243452	41246877	41243734	41243734	Missense_Mutation	T	C	p.N1272D
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41243739	41243739	Missense_Mutation	C	T	p.C1270Y
CJM_SKIN	41243452	41246877	41243848	41243848	Missense_Mutation	C	A	p.V1234L
SW1271_LUNG	41243452	41246877	41243850	41243850	Missense_Mutation	T	A	p.K1233I
HCT15_LARGE_INTESTINE	41243452	41246877	41243979	41243979	Missense_Mutation	G	T	p.P1190H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41244181	41244181	Missense_Mutation	C	A	p.D1123Y
KYSE140_OESOPHAGUS	41243452	41246877	41244376	41244376	Missense_Mutation	T	C	p.I1058V
VMRCRCZ_KIDNEY	41243452	41246877	41244418	41244418	Missense_Mutation	T	C	p.I1044V
PLCPRF5_LIVER	41243452	41246877	41244472	41244472	Missense_Mutation	T	C	p.I1026V
NCIH322_LUNG	41243452	41246877	41244506	41244506	Missense_Mutation	C	T	p.M1014I
HEC265_ENDOMETRIUM	41243452	41246877	41244583	41244583	Missense_Mutation	A	G	p.F989L
CCK81_LARGE_INTESTINE	41243452	41246877	41244621	41244621	Missense_Mutation	T	C	p.N976S
LS411N_LARGE_INTESTINE	41243452	41246877	41244631	41244631	Missense_Mutation	G	A	p.L973F
DU145_PROSTATE	41243452	41246877	41244664	41244664	Missense_Mutation	C	T	p.E962K
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41244688	41244688	Missense_Mutation	G	T	p.L954I
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41244703	41244703	Missense_Mutation	C	A	p.G949C
NCIH513_PLEURA	41243452	41246877	41244730	41244730	Missense_Mutation	C	A	p.D940Y
MKN7_STOMACH	41243452	41246877	41244733	41244733	Missense_Mutation	C	G	p.V939L
HMVII_SKIN	41243452	41246877	41244822	41244822	Missense_Mutation	T	A	p.N909I
NCIH1703_LUNG	41243452	41246877	41244879	41244879	Missense_Mutation	C	A	p.G890V
HEC6_ENDOMETRIUM	41243452	41246877	41244996	41244996	Missense_Mutation	T	C	p.E851G
OSC20_UPPER_AERODIGESTIVE_TRACT	41243452	41246877	41245021	41245021	Missense_Mutation	T	C	p.T843A
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41245054	41245054	Missense_Mutation	G	A	p.P832S
UACC62_SKIN	41243452	41246877	41245054	41245054	Missense_Mutation	G	A	p.P832S
LS180_LARGE_INTESTINE	41243452	41246877	41245119	41245119	Missense_Mutation	T	G	p.N810T
FTC238_THYROID	41243452	41246877	41245208	41245209	Missense_Mutation	CT	AC	p.Q780R
FTC238_THYROID	41243452	41246877	41245208	41245208	Missense_Mutation	C	A	p.Q780H
FTC238_THYROID	41243452	41246877	41245209	41245209	Missense_Mutation	T	C	p.Q780R
HT115_LARGE_INTESTINE	41243452	41246877	41245260	41245260	Missense_Mutation	G	A	p.S763F
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41245323	41245323	Missense_Mutation	T	C	p.N742S
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41245488	41245488	Missense_Mutation	T	G	p.Q687P
HCT15_LARGE_INTESTINE	41243452	41246877	41245560	41245560	Missense_Mutation	C	T	p.S663N
KYSE50_OESOPHAGUS	41243452	41246877	41245738	41245738	Missense_Mutation	T	C	p.K604E
KYSE220_OESOPHAGUS	41243452	41246877	41245740	41245740	Missense_Mutation	G	A	p.S603L
SNU81_LARGE_INTESTINE	41243452	41246877	41245825	41245825	Missense_Mutation	C	T	p.E575K
PANC1005_PANCREAS	41243452	41246877	41245836	41245836	Missense_Mutation	A	G	p.I571T
CCK81_LARGE_INTESTINE	41243452	41246877	41245890	41245890	Missense_Mutation	T	C	p.H553R
GIMEN_AUTONOMIC_GANGLIA	41243452	41246877	41246151	41246151	Missense_Mutation	C	T	p.R466Q
NUGC4_STOMACH	41243452	41246877	41246181	41246181	Missense_Mutation	A	G	p.I456T
RKO_LARGE_INTESTINE	41243452	41246877	41246245	41246245	Missense_Mutation	C	A	p.D435Y
RERFLCFM_LUNG	41243452	41246877	41246317	41246317	Missense_Mutation	C	G	p.D411H
HEC251_ENDOMETRIUM	41243452	41246877	41246336	41246336	Missense_Mutation	T	G	p.E404D
CCK81_LARGE_INTESTINE	41243452	41246877	41246346	41246346	Missense_Mutation	C	T	p.G401E
MOTN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41246346	41246346	Missense_Mutation	C	T	p.G401E
BT16_SOFT_TISSUE	41243452	41246877	41246427	41246427	Missense_Mutation	G	A	p.T374I
LU99_LUNG	41243452	41246877	41246519	41246519	Missense_Mutation	A	C	p.N343K
NCIH1838_LUNG	41243452	41246877	41246565	41246565	Missense_Mutation	C	T	p.C328Y
JHUEM7_ENDOMETRIUM	41243452	41246877	41246724	41246724	Missense_Mutation	C	T	p.G275D
NCIH1993_LUNG	41246761	41246877	41246871	41246871	Missense_Mutation	C	A	p.C226F
NCIH1993_LUNG	41243452	41246877	41246871	41246871	Missense_Mutation	C	A	p.C226F
HS746T_STOMACH	41249261	41249306	41249297	41249297	Missense_Mutation	G	A	p.S186F
NCIH847_LUNG	41258473	41258550	41258506	41258506	Missense_Mutation	T	A	p.Q60L
NCIH847_LUNG	41258495	41258550	41258506	41258506	Missense_Mutation	T	A	p.Q60L
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41258473	41258550	41258512	41258512	Missense_Mutation	G	T	p.P58H
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41258495	41258550	41258512	41258512	Missense_Mutation	G	T	p.P58H
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41258473	41258550	41258531	41258531	Missense_Mutation	G	T	p.L52I
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41258495	41258550	41258531	41258531	Missense_Mutation	G	T	p.L52I
HEC108_ENDOMETRIUM	41267743	41267796	41267767	41267767	Missense_Mutation	G	A	p.T37I
HCC2157_BREAST	41267743	41267796	41267787	41267787	Missense_Mutation	C	A	p.L30F
NCIH835_LUNG	41243452	41246877	41244817	41244817	Nonsense_Mutation	C	A	p.G911*
HT115_LARGE_INTESTINE	41243452	41246877	41245819	41245819	Nonsense_Mutation	C	A	p.E577*
SNU668_STOMACH	41243452	41246877	41245927	41245927	Nonsense_Mutation	G	A	p.Q541*
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41243452	41246877	41246043	41246043	Nonsense_Mutation	A	C	p.L502*
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41201138	41201211	41201211	41201211	Splice_Site	T	C	p.D1778G
JHOS2_OVARY	41276034	41276132	41276113	41276113	Start_Codon_SNP	T	C	p.M1V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BRCA1

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRCA1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRCA1

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RelatedDrugs for BRCA1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for BRCA1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
BRCA1	C0006142	Malignant neoplasm of breast	21	ORPHANET;UNIPROT
BRCA1	C1458155	Mammary Neoplasms	11	CTD_human
BRCA1	C0011570	Mental Depression	5	PSYGENET
BRCA1	C0011581	Depressive disorder	5	PSYGENET
BRCA1	C0919267	ovarian neoplasm	5	CTD_human
BRCA1	C0024668	Mammary Neoplasms, Experimental	2	CTD_human
BRCA1	C0677776	Hereditary Breast and Ovarian Cancer Syndrome	2	CTD_human;ORPHANET
BRCA1	C0007621	Neoplastic Cell Transformation	1	CTD_human
BRCA1	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
BRCA1	C0024667	Animal Mammary Neoplasms	1	CTD_human
BRCA1	C0026636	Mouth Diseases	1	CTD_human
BRCA1	C0030297	Pancreatic Neoplasm	1	CTD_human
BRCA1	C0033578	Prostatic Neoplasms	1	CTD_human
BRCA1	C0036341	Schizophrenia	1	PSYGENET
BRCA1	C0376628	Chromosome Breakage	1	CTD_human
BRCA1	C1140680	Malignant neoplasm of ovary	1	UNIPROT
BRCA1	C2676676	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1	1	CTD_human;ORPHANET;UNIPROT

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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