ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NPAT

Gene summary

Gene information	Gene symbol	NPAT
	Gene ID	4863
	Gene name	nuclear protein, coactivator of histone transcription
	Synonyms	E14\|E14/NPAT\|p220
	Cytomap	11q22.3
	Type of gene	protein-coding
	Description	protein NPATnuclear protein of the ATM locusnuclear protein of the ataxia telangiectasia mutated locusnuclear protein, ataxia-telangiectasia locusnuclear protein, co-activator of histone transcription
	Modification date	20180519
	UniProtAcc	Q14207
	Context	PubMed: NPAT [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
NPAT	GO:0045893	positive regulation of transcription, DNA-templated	18850719

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Exon skipping events across known transcript of Ensembl for NPAT 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 NPAT

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 NPAT

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77252	11	108029519:108029746:108031606:108032741:108032846:108032892	108031606:108032741	ENSG00000149308.12	ENST00000530859.1,ENST00000278612.8
exon_skip_77254	11	108040654:108040770:108042925:108044578:108046972:108047101	108042925:108044578	ENSG00000149308.12	ENST00000278612.8
exon_skip_77255	11	108056129:108056221:108057208:108057296:108058824:108058906	108057208:108057296	ENSG00000149308.12	ENST00000610253.1,ENST00000278612.8
exon_skip_77257	11	108064683:108064744:108068028:108068147:108093226:108093343	108068028:108068147	ENSG00000149308.12	ENST00000610253.1
exon_skip_77259	11	108068028:108068147:108079147:108079311:108093226:108093343	108079147:108079311	ENSG00000149308.12	ENST00000531384.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NPAT

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77252	11	108029519:108029746:108031606:108032741:108032846:108032892	108031606:108032741	ENSG00000149308.12	ENST00000278612.8,ENST00000530859.1
exon_skip_77254	11	108040654:108040770:108042925:108044578:108046972:108047101	108042925:108044578	ENSG00000149308.12	ENST00000278612.8
exon_skip_77255	11	108056129:108056221:108057208:108057296:108058824:108058906	108057208:108057296	ENSG00000149308.12	ENST00000278612.8,ENST00000610253.1
exon_skip_77257	11	108064683:108064744:108068028:108068147:108093226:108093343	108068028:108068147	ENSG00000149308.12	ENST00000610253.1
exon_skip_77259	11	108068028:108068147:108079147:108079311:108093226:108093343	108079147:108079311	ENSG00000149308.12	ENST00000531384.1

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 NPAT

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
ENST00000278612	108031606	108032741	Frame-shift
ENST00000278612	108057208	108057296	Frame-shift
ENST00000278612	108042925	108044578	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
ENST00000278612	108031606	108032741	Frame-shift
ENST00000278612	108057208	108057296	Frame-shift
ENST00000278612	108042925	108044578	In-frame

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

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
ENST00000278612	6134	1427	108042925	108044578	1239	2891	377	928

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
ENST00000278612	6134	1427	108042925	108044578	1239	2891	377	928

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
Q14207	377	928	1	1427	Chain	ID=PRO_0000318163;Note=Protein NPAT
Q14207	377	928	554	554	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14207	377	928	599	599	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BMA5
Q14207	377	928	775	775	Modified residue	Note=Phosphoserine%3B by CDK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10995387;Dbxref=PMID:10995387
Q14207	377	928	779	779	Modified residue	Note=Phosphoserine%3B by CDK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10995387;Dbxref=PMID:10995387
Q14207	377	928	775	775	Mutagenesis	Note=Impairs activation of histone gene transcription%3B when associated with A-779%3B A-1100%3B A-1270 and A-1350. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10995387,ECO:0000269\|PubMed:14585971,ECO:000
Q14207	377	928	779	779	Mutagenesis	Note=Impairs activation of histone gene transcription%3B when associated with A-775%3B A-1100%3B A-1270 and A-1350. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10995387,ECO:0000269\|PubMed:14585971,ECO:000
Q14207	377	928	399	399	Natural variant	ID=VAR_038697;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8923007;Dbxref=dbSNP:rs1051521,PMID:8923007
Q14207	377	928	447	447	Natural variant	ID=VAR_038698;Note=V->M;Dbxref=dbSNP:rs35504388
Q14207	377	928	483	483	Natural variant	ID=VAR_038699;Note=I->L;Dbxref=dbSNP:rs968207
Q14207	377	928	540	540	Natural variant	ID=VAR_038700;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs4144901,PMID:14702039
Q14207	377	928	575	575	Natural variant	ID=VAR_038701;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:8743993,ECO:0000269\|PubMed:8923007,ECO:0000269\|PubMed:9205109;Dbxref=dbSN
Q14207	377	928	608	608	Natural variant	ID=VAR_038702;Note=V->A;Dbxref=dbSNP:rs35095430
Q14207	377	928	621	621	Natural variant	ID=VAR_038703;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8923007;Dbxref=dbSNP:rs1051522,PMID:8923007
Q14207	377	928	629	653	Region	Note=Required for acceleration of G1 phase
Q14207	377	928	828	853	Region	Note=Required for acceleration of G1 phase
Q14207	377	928	471	471	Sequence conflict	Note=Y->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14207	377	928	785	785	Sequence conflict	Note=E->G;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
Q14207	377	928	1	1427	Chain	ID=PRO_0000318163;Note=Protein NPAT
Q14207	377	928	554	554	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q14207	377	928	599	599	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BMA5
Q14207	377	928	775	775	Modified residue	Note=Phosphoserine%3B by CDK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10995387;Dbxref=PMID:10995387
Q14207	377	928	779	779	Modified residue	Note=Phosphoserine%3B by CDK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10995387;Dbxref=PMID:10995387
Q14207	377	928	775	775	Mutagenesis	Note=Impairs activation of histone gene transcription%3B when associated with A-779%3B A-1100%3B A-1270 and A-1350. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10995387,ECO:0000269\|PubMed:14585971,ECO:000
Q14207	377	928	779	779	Mutagenesis	Note=Impairs activation of histone gene transcription%3B when associated with A-775%3B A-1100%3B A-1270 and A-1350. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10995387,ECO:0000269\|PubMed:14585971,ECO:000
Q14207	377	928	399	399	Natural variant	ID=VAR_038697;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8923007;Dbxref=dbSNP:rs1051521,PMID:8923007
Q14207	377	928	447	447	Natural variant	ID=VAR_038698;Note=V->M;Dbxref=dbSNP:rs35504388
Q14207	377	928	483	483	Natural variant	ID=VAR_038699;Note=I->L;Dbxref=dbSNP:rs968207
Q14207	377	928	540	540	Natural variant	ID=VAR_038700;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs4144901,PMID:14702039
Q14207	377	928	575	575	Natural variant	ID=VAR_038701;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:8743993,ECO:0000269\|PubMed:8923007,ECO:0000269\|PubMed:9205109;Dbxref=dbSN
Q14207	377	928	608	608	Natural variant	ID=VAR_038702;Note=V->A;Dbxref=dbSNP:rs35095430
Q14207	377	928	621	621	Natural variant	ID=VAR_038703;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8923007;Dbxref=dbSNP:rs1051522,PMID:8923007
Q14207	377	928	629	653	Region	Note=Required for acceleration of G1 phase
Q14207	377	928	828	853	Region	Note=Required for acceleration of G1 phase
Q14207	377	928	471	471	Sequence conflict	Note=Y->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14207	377	928	785	785	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for NPAT

- 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.

NPAT_COAD_exon_skip_77254_psi_boxplot.png
boxplot

NPAT_ESCA_exon_skip_77254_psi_boxplot.png
boxplot

NPAT_STAD_exon_skip_77254_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_77252	108031607	108032741	108031979	108031979	Frame_Shift_Del	T	-	p.K1278fs
LIHC	TCGA-BC-A3KG-01	exon_skip_77252	108031607	108032741	108032478	108032478	Frame_Shift_Del	T	-	p.N1113fs
STAD	TCGA-SW-A7EA-01	exon_skip_77254	108042926	108044578	108043205	108043205	Frame_Shift_Del	A	-	p.S836fs
STAD	TCGA-SW-A7EA-01	exon_skip_77254	108042926	108044578	108043205	108043205	Frame_Shift_Del	A	-	p.S836X
LIHC	TCGA-DD-A3A0-01	exon_skip_77254	108042926	108044578	108043267	108043267	Frame_Shift_Del	A	-	p.L815fs
LIHC	TCGA-DD-A1EG-01	exon_skip_77254	108042926	108044578	108043363	108043363	Frame_Shift_Del	T	-	p.N783fs
LIHC	TCGA-DD-A39Y-01	exon_skip_77254	108042926	108044578	108043411	108043411	Frame_Shift_Del	T	-	p.N767fs
LUSC	TCGA-22-5491-01	exon_skip_77254	108042926	108044578	108043724	108043724	Frame_Shift_Del	A	-	p.S663fs
COAD	TCGA-CM-6674-01	exon_skip_77254	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
COAD	TCGA-F4-6856-01	exon_skip_77254	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
ESCA	TCGA-L5-A4OI-01	exon_skip_77254	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
STAD	TCGA-CG-4306-01	exon_skip_77254	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
STAD	TCGA-CG-4442-01	exon_skip_77254	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
STAD	TCGA-FP-A4BE-01	exon_skip_77254	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
LIHC	TCGA-DD-A1EG-01	exon_skip_77254	108042926	108044578	108044462	108044462	Frame_Shift_Del	A	-	p.S417fs
LIHC	TCGA-DD-A39Y-01	exon_skip_77254	108042926	108044578	108044552	108044552	Frame_Shift_Del	A	-	p.C387fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_77255	108057209	108057296	108057280	108057280	Frame_Shift_Del	T	-	p.S219fs
UCEC	TCGA-D1-A177-01	exon_skip_77255	108057209	108057296	108057280	108057280	Frame_Shift_Del	T	-	p.S219fs
LIHC	TCGA-DD-A1EG-01	exon_skip_77257	108068029	108068147	108068094	108068094	Frame_Shift_Del	T	-	p.S32fs
LIHC	TCGA-DD-A3A0-01	exon_skip_77257	108068029	108068147	108068104	108068104	Frame_Shift_Del	A	-	p.F27fs
LIHC	TCGA-BC-A112-01	exon_skip_77252	108031607	108032741	108031649	108031650	Frame_Shift_Ins	-	T	p.T1388fs
COAD	TCGA-AA-3663-01	exon_skip_77252	108031607	108032741	108032695	108032696	Frame_Shift_Ins	-	T	p.S1040fs
STAD	TCGA-F1-6874-01	exon_skip_77254	108042926	108044578	108042926	108042927	Frame_Shift_Ins	-	T	p.G929fs
STAD	TCGA-BR-8361-01	exon_skip_77254	108042926	108044578	108044068	108044069	Frame_Shift_Ins	-	T	p.S548fs
STAD	TCGA-HU-A4H8-01	exon_skip_77254	108042926	108044578	108044068	108044069	Frame_Shift_Ins	-	T	p.S548fs
STAD	TCGA-BR-8361-01	exon_skip_77254	108042926	108044578	108044069	108044070	Frame_Shift_Ins	-	T	p.S548fs
STAD	TCGA-HU-A4H8-01	exon_skip_77254	108042926	108044578	108044069	108044070	Frame_Shift_Ins	-	T	p.S548fs
BRCA	TCGA-E2-A159-01	exon_skip_77252	108031607	108032741	108032049	108032049	Nonsense_Mutation	G	C	p.S1255*
COAD	TCGA-CA-6718-01	exon_skip_77254	108042926	108044578	108043331	108043331	Nonsense_Mutation	C	A	p.E794X
UCEC	TCGA-AX-A05Z-01	exon_skip_77254	108042926	108044578	108043709	108043709	Nonsense_Mutation	C	A	p.E668*
HNSC	TCGA-UF-A71E-01	exon_skip_77254	108042926	108044578	108044179	108044179	Nonsense_Mutation	G	T	p.S511*
DLBC	TCGA-FF-8041-01	exon_skip_77254	108042926	108044578	108044441	108044441	Nonsense_Mutation	G	A	p.Q424X
ESCA	TCGA-VR-AA4G-01	exon_skip_77254	108042926	108044578	108044483	108044483	Nonsense_Mutation	G	A	p.Q410*
ESCA	TCGA-VR-AA4G-01	exon_skip_77254	108042926	108044578	108044483	108044483	Nonsense_Mutation	G	A	p.Q410X
LUAD	TCGA-69-7979-01	exon_skip_77255	108057209	108057296	108057289	108057289	Nonsense_Mutation	G	A	p.Q216*
LUSC	TCGA-43-5668-01	exon_skip_77255	108057209	108057296	108057295	108057295	Nonsense_Mutation	C	A	p.S213_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-F1-6874-01
	Cancer type: STAD
	ESID: exon_skip_77254
	Skipped exon start: 108042926
	Skipped exon end: 108044578
	Mutation start: 108042926
	Mutation end: 108042927
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.G929fs
exon_skip_115384_STAD_TCGA-F1-6874-01.png
exon_skip_13071_STAD_TCGA-F1-6874-01.png
exon_skip_18752_STAD_TCGA-F1-6874-01.png
exon_skip_25091_STAD_TCGA-F1-6874-01.png
exon_skip_289262_STAD_TCGA-F1-6874-01.png
exon_skip_30081_STAD_TCGA-F1-6874-01.png
exon_skip_35193_STAD_TCGA-F1-6874-01.png
exon_skip_376457_STAD_TCGA-F1-6874-01.png
exon_skip_377858_STAD_TCGA-F1-6874-01.png
exon_skip_457165_STAD_TCGA-F1-6874-01.png
exon_skip_457524_STAD_TCGA-F1-6874-01.png
exon_skip_483956_STAD_TCGA-F1-6874-01.png
exon_skip_69788_STAD_TCGA-F1-6874-01.png
exon_skip_77254_STAD_TCGA-F1-6874-01.png
	Sample: TCGA-BR-8361-01
	Cancer type: STAD
	ESID: exon_skip_77254
	Skipped exon start: 108042926
	Skipped exon end: 108044578
	Mutation start: 108044068
	Mutation end: 108044069
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.S548fs
	Sample: TCGA-BR-8361-01
	Cancer type: STAD
	ESID: exon_skip_77254
	Skipped exon start: 108042926
	Skipped exon end: 108044578
	Mutation start: 108044069
	Mutation end: 108044070
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.S548fs
exon_skip_308974_STAD_TCGA-BR-8361-01.png
exon_skip_346425_STAD_TCGA-BR-8361-01.png
exon_skip_346426_STAD_TCGA-BR-8361-01.png
exon_skip_35193_STAD_TCGA-BR-8361-01.png
exon_skip_361242_STAD_TCGA-BR-8361-01.png
exon_skip_379370_STAD_TCGA-BR-8361-01.png
exon_skip_388276_STAD_TCGA-BR-8361-01.png
exon_skip_421737_STAD_TCGA-BR-8361-01.png
exon_skip_511069_STAD_TCGA-BR-8361-01.png
exon_skip_517775_STAD_TCGA-BR-8361-01.png
exon_skip_77254_STAD_TCGA-BR-8361-01.png
exon_skip_77846_STAD_TCGA-BR-8361-01.png
exon_skip_91288_STAD_TCGA-BR-8361-01.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
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108031607	108032741	108031979	108031979	Frame_Shift_Del	T	-	p.K1278fs
IM95_STOMACH	108031607	108032741	108032183	108032183	Frame_Shift_Del	T	-	p.K1210fs
RKO_LARGE_INTESTINE	108031607	108032741	108032696	108032696	Frame_Shift_Del	T	-	p.K1039fs
PACADD137_PANCREAS	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
HEC6_ENDOMETRIUM	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
SNGM_ENDOMETRIUM	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
SNU349_KIDNEY	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
TOV21G_OVARY	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
EFO27_OVARY	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
GP2D_LARGE_INTESTINE	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
LS411N_LARGE_INTESTINE	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
GP5D_LARGE_INTESTINE	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
RCCFG2_KIDNEY	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
TGBC11TKB_STOMACH	108042926	108044578	108044069	108044069	Frame_Shift_Del	T	-	p.S548fs
SNUC4_LARGE_INTESTINE	108057209	108057296	108057280	108057280	Frame_Shift_Del	T	-	p.S219fs
BICR18_UPPER_AERODIGESTIVE_TRACT	108068029	108068147	108068121	108068122	Frame_Shift_Del	AA	-	p.S22fs
SKOV3_OVARY	108031607	108032741	108031706	108031707	Frame_Shift_Ins	-	T	p.K1369fs
LU65_LUNG	108031607	108032741	108031706	108031707	Frame_Shift_Ins	-	T	p.K1369fs
EN_ENDOMETRIUM	108031607	108032741	108032273	108032274	Frame_Shift_Ins	-	T	p.N1180fs
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043691	108043692	Frame_Shift_Ins	-	AA	p.L674fs
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043691	108043692	Frame_Shift_Ins	-	AA	p.L674fs
BICR18_UPPER_AERODIGESTIVE_TRACT	108068029	108068147	108068125	108068126	Frame_Shift_Ins	-	TA	p.L20fs
HT115_LARGE_INTESTINE	108031607	108032741	108031616	108031616	Missense_Mutation	C	A	p.K1399N
HEC108_ENDOMETRIUM	108031607	108032741	108031617	108031617	Missense_Mutation	T	C	p.K1399R
HARA_LUNG	108031607	108032741	108031648	108031648	Missense_Mutation	G	A	p.L1389F
SARC9371_BONE	108031607	108032741	108031663	108031663	Missense_Mutation	G	A	p.P1384S
JHUEM1_ENDOMETRIUM	108031607	108032741	108031722	108031722	Missense_Mutation	C	T	p.R1364K
NCIH854_LUNG	108031607	108032741	108031776	108031776	Missense_Mutation	G	A	p.T1346I
SNU407_LARGE_INTESTINE	108031607	108032741	108031933	108031933	Missense_Mutation	G	A	p.R1294C
GI1_CENTRAL_NERVOUS_SYSTEM	108031607	108032741	108032032	108032032	Missense_Mutation	C	A	p.D1261Y
HEC59_ENDOMETRIUM	108031607	108032741	108032043	108032043	Missense_Mutation	C	A	p.S1257I
SNU1040_LARGE_INTESTINE	108031607	108032741	108032356	108032356	Missense_Mutation	T	C	p.T1153A
LB1047EBV_MATCHED_NORMAL_TISSUE	108031607	108032741	108032386	108032386	Missense_Mutation	C	G	p.E1143Q
LB1047RCC_KIDNEY	108031607	108032741	108032386	108032386	Missense_Mutation	C	G	p.E1143Q
SNU324_PANCREAS	108031607	108032741	108032489	108032489	Missense_Mutation	T	G	p.K1108N
LS180_LARGE_INTESTINE	108031607	108032741	108032562	108032562	Missense_Mutation	A	G	p.V1084A
NCIH524_LUNG	108031607	108032741	108032578	108032578	Missense_Mutation	G	T	p.P1079T
COLO684_ENDOMETRIUM	108031607	108032741	108032586	108032586	Missense_Mutation	G	A	p.T1076M
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108031607	108032741	108032628	108032628	Missense_Mutation	C	T	p.R1062H
HS688AT_FIBROBLAST	108031607	108032741	108032659	108032659	Missense_Mutation	T	C	p.I1052V
U2OS_BONE	108031607	108032741	108032661	108032661	Missense_Mutation	C	T	p.S1051N
KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043052	108043052	Missense_Mutation	C	T	p.V887I
SNUC1_LARGE_INTESTINE	108042926	108044578	108043057	108043057	Missense_Mutation	G	C	p.S885C
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043060	108043060	Missense_Mutation	T	C	p.Q884R
HCC461_LUNG	108042926	108044578	108043109	108043110	Missense_Mutation	TC	AG	p.I868L
HCC461_LUNG	108042926	108044578	108043109	108043109	Missense_Mutation	T	A	p.I868L
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043148	108043148	Missense_Mutation	C	T	p.A855T
VMRCLCP_LUNG	108042926	108044578	108043169	108043169	Missense_Mutation	C	T	p.G848R
MIAPACA2_PANCREAS	108042926	108044578	108043190	108043190	Missense_Mutation	G	C	p.P841A
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043192	108043192	Missense_Mutation	G	A	p.T840I
HCT15_LARGE_INTESTINE	108042926	108044578	108043196	108043196	Missense_Mutation	C	T	p.V839I
SNU245_BILIARY_TRACT	108042926	108044578	108043283	108043283	Missense_Mutation	T	C	p.M810V
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043283	108043283	Missense_Mutation	T	C	p.M810V
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108043283	108043283	Missense_Mutation	T	C	p.M810V
JHH4_LIVER	108042926	108044578	108043562	108043562	Missense_Mutation	A	G	p.S717P
GEO_LARGE_INTESTINE	108042926	108044578	108043781	108043781	Missense_Mutation	A	C	p.L644V
SNU449_LIVER	108042926	108044578	108043798	108043798	Missense_Mutation	T	C	p.D638G
UACC62_SKIN	108042926	108044578	108043828	108043828	Missense_Mutation	G	C	p.S628W
SQ1_LUNG	108042926	108044578	108044005	108044005	Missense_Mutation	G	A	p.S569L
DIFI_LARGE_INTESTINE	108042926	108044578	108044014	108044014	Missense_Mutation	C	T	p.G566D
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108044032	108044032	Missense_Mutation	A	C	p.L560R
LS411N_LARGE_INTESTINE	108042926	108044578	108044041	108044041	Missense_Mutation	G	A	p.T557I
COLO829_SKIN	108042926	108044578	108044368	108044368	Missense_Mutation	G	A	p.P448L
COLO829_MATCHED_NORMAL_TISSUE	108042926	108044578	108044368	108044368	Missense_Mutation	G	A	p.P448L
SISO_CERVIX	108042926	108044578	108044451	108044451	Missense_Mutation	A	T	p.S420R
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108044451	108044451	Missense_Mutation	A	T	p.S420R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108042926	108044578	108044530	108044530	Missense_Mutation	T	C	p.D394G
HT115_LARGE_INTESTINE	108042926	108044578	108044558	108044558	Missense_Mutation	C	T	p.A385T
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	108068029	108068147	108068061	108068061	Missense_Mutation	T	C	p.T42A
SNU81_LARGE_INTESTINE	108031607	108032741	108031638	108031638	Nonsense_Mutation	G	T	p.S1392*
OVCAR5_OVARY	108031607	108032741	108032281	108032281	Nonsense_Mutation	G	A	p.Q1178*

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

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 NPAT

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

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RelatedDrugs for NPAT

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 NPAT

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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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