ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ARID1B

Gene summary

Gene information	Gene symbol	ARID1B
	Gene ID	57492
	Gene name	AT-rich interaction domain 1B
	Synonyms	6A3-5\|BAF250B\|BRIGHT\|CSS1\|DAN15\|ELD/OSA1\|MRD12\|OSA2\|P250R
	Cytomap	6q25.3
	Type of gene	protein-coding
	Description	AT-rich interactive domain-containing protein 1BARID domain-containing protein 1BAT rich interactive domain 1B (SWI1-like)BRG1-associated factor 250bBRG1-binding protein ELD/OSA1ELD (eyelid)/OSA protein
	Modification date	20180529
	UniProtAcc	Q8NFD5
	Context	PubMed: ARID1B [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

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Exon skipping events across known transcript of Ensembl for ARID1B 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 ARID1B

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 ARID1B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_454974	6	157100566:157100605:157150360:157150555:157222509:157222659	157150360:157150555	ENSG00000049618.17	ENST00000367148.1,ENST00000275248.4,ENST00000414678.2
exon_skip_454975	6	157150360:157150555:157192747:157192786:157222509:157222659	157192747:157192786	ENSG00000049618.17	ENST00000346085.5
exon_skip_454976	6	157150360:157150555:157222509:157222659:157256599:157256710	157222509:157222659	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000275248.4,ENST00000414678.2
exon_skip_454979	6	157256604:157256710:157405795:157406039:157431605:157431695	157405795:157406039	ENSG00000049618.17	ENST00000452544.1,ENST00000350026.5,ENST00000367148.1,ENST00000319584.6,ENST00000346085.5,ENST00000275248.4
exon_skip_454980	6	157256604:157256710:157405795:157406039:157454161:157454341	157405795:157406039	ENSG00000049618.17	ENST00000414678.2
exon_skip_454982	6	157405899:157406039:157431605:157431695:157454161:157454341	157431605:157431695	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000319584.6,ENST00000346085.5,ENST00000275248.4
exon_skip_454985	6	157405899:157406039:157454161:157454341:157469757:157470085	157454161:157454341	ENSG00000049618.17	ENST00000414678.2
exon_skip_454986	6	157431605:157431695:157454161:157454341:157469757:157470085	157454161:157454341	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000319584.6,ENST00000346085.5,ENST00000275248.4
exon_skip_454988	6	157431605:157431695:157454173:157454341:157469757:157470085	157454173:157454341	ENSG00000049618.17	ENST00000452544.1
exon_skip_454992	6	157454173:157454341:157469757:157470085:157488173:157488319	157469757:157470085	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000319584.6,ENST00000346085.5,ENST00000275248.4,ENST00000414678.2
exon_skip_454994	6	157470044:157470085:157471858:157471987:157488173:157488319	157471858:157471987	ENSG00000049618.17	ENST00000478761.2
exon_skip_454996	6	157495159:157495251:157495980:157496139:157502102:157502312	157495980:157496139	ENSG00000049618.17	ENST00000478761.2,ENST00000367148.1,ENST00000319584.6,ENST00000275248.4,ENST00000414678.2
exon_skip_454999	6	157517298:157517449:157519944:157520041:157521838:157522622	157519944:157520041	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000346085.5,ENST00000275248.4,ENST00000414678.2
exon_skip_455000	6	157521838:157522622:157524999:157525130:157527300:157530284	157524999:157525130	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000346085.5,ENST00000275248.4,ENST00000414678.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ARID1B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_454974	6	157100566:157100605:157150360:157150555:157222509:157222659	157150360:157150555	ENSG00000049618.17	ENST00000367148.1,ENST00000275248.4,ENST00000414678.2
exon_skip_454975	6	157150360:157150555:157192747:157192786:157222509:157222659	157192747:157192786	ENSG00000049618.17	ENST00000346085.5
exon_skip_454976	6	157150360:157150555:157222509:157222659:157256599:157256710	157222509:157222659	ENSG00000049618.17	ENST00000350026.5,ENST00000367148.1,ENST00000275248.4,ENST00000414678.2
exon_skip_454979	6	157256604:157256710:157405795:157406039:157431605:157431695	157405795:157406039	ENSG00000049618.17	ENST00000350026.5,ENST00000346085.5,ENST00000367148.1,ENST00000275248.4,ENST00000319584.6,ENST00000452544.1
exon_skip_454980	6	157256604:157256710:157405795:157406039:157454161:157454341	157405795:157406039	ENSG00000049618.17	ENST00000414678.2
exon_skip_454982	6	157405899:157406039:157431605:157431695:157454161:157454341	157431605:157431695	ENSG00000049618.17	ENST00000350026.5,ENST00000346085.5,ENST00000367148.1,ENST00000275248.4,ENST00000319584.6
exon_skip_454985	6	157405899:157406039:157454161:157454341:157469757:157470085	157454161:157454341	ENSG00000049618.17	ENST00000414678.2
exon_skip_454986	6	157431605:157431695:157454161:157454341:157469757:157470085	157454161:157454341	ENSG00000049618.17	ENST00000350026.5,ENST00000346085.5,ENST00000367148.1,ENST00000275248.4,ENST00000319584.6
exon_skip_454988	6	157431605:157431695:157454173:157454341:157469757:157470085	157454173:157454341	ENSG00000049618.17	ENST00000452544.1
exon_skip_454992	6	157454173:157454341:157469757:157470085:157488173:157488319	157469757:157470085	ENSG00000049618.17	ENST00000350026.5,ENST00000346085.5,ENST00000367148.1,ENST00000275248.4,ENST00000414678.2,ENST00000319584.6
exon_skip_454994	6	157470044:157470085:157471858:157471987:157488173:157488319	157471858:157471987	ENSG00000049618.17	ENST00000478761.2
exon_skip_454996	6	157495159:157495251:157495980:157496139:157502102:157502312	157495980:157496139	ENSG00000049618.17	ENST00000367148.1,ENST00000275248.4,ENST00000414678.2,ENST00000319584.6,ENST00000478761.2
exon_skip_454999	6	157517298:157517449:157519944:157520041:157521838:157522622	157519944:157520041	ENSG00000049618.17	ENST00000350026.5,ENST00000346085.5,ENST00000367148.1,ENST00000275248.4,ENST00000414678.2
exon_skip_455000	6	157521838:157522622:157524999:157525130:157527300:157530284	157524999:157525130	ENSG00000049618.17	ENST00000350026.5,ENST00000346085.5,ENST00000367148.1,ENST00000275248.4,ENST00000414678.2

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 ARID1B

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
ENST00000350026	157405795	157406039	Frame-shift
ENST00000350026	157469757	157470085	Frame-shift
ENST00000350026	157519944	157520041	Frame-shift
ENST00000350026	157524999	157525130	Frame-shift
ENST00000350026	157222509	157222659	In-frame
ENST00000350026	157431605	157431695	In-frame
ENST00000350026	157454161	157454341	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
ENST00000350026	157405795	157406039	Frame-shift
ENST00000350026	157469757	157470085	Frame-shift
ENST00000350026	157519944	157520041	Frame-shift
ENST00000350026	157524999	157525130	Frame-shift
ENST00000350026	157222509	157222659	In-frame
ENST00000350026	157431605	157431695	In-frame
ENST00000350026	157454161	157454341	In-frame

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Infer the effects of exon skipping event on protein functional features for ARID1B

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
ENST00000350026	7988	2236	157222509	157222659	1739	1888	579	629
ENST00000350026	7988	2236	157431605	157431695	2244	2333	747	777
ENST00000350026	7988	2236	157454161	157454341	2334	2513	777	837

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
ENST00000350026	7988	2236	157222509	157222659	1739	1888	579	629
ENST00000350026	7988	2236	157431605	157431695	2244	2333	747	777
ENST00000350026	7988	2236	157454161	157454341	2334	2513	777	837

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
Q8NFD5	579	629	1	750	Alternative sequence	ID=VSP_040800;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11734557;Dbxref=PMID:11734557
Q8NFD5	579	629	579	579	Alternative sequence	ID=VSP_015226;Note=In isoform 2. Q->QDSGDATWKETFWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11988099;Dbxref=PMID:11988099
Q8NFD5	579	629	2	2236	Chain	ID=PRO_0000200576;Note=AT-rich interactive domain-containing protein 1B
Q8NFD5	579	629	574	633	Compositional bias	Note=Gln-rich
Q8NFD5	747	777	1	750	Alternative sequence	ID=VSP_040800;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11734557;Dbxref=PMID:11734557
Q8NFD5	747	777	2	2236	Chain	ID=PRO_0000200576;Note=AT-rich interactive domain-containing protein 1B
Q8NFD5	747	777	684	771	Compositional bias	Note=Ser-rich
Q8NFD5	747	777	771	771	Natural variant	ID=VAR_077456;Note=Found in a patient with short stature%3B unknown pathological significance. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26376624;Dbxref=PMID:26376624
Q8NFD5	777	837	2	2236	Chain	ID=PRO_0000200576;Note=AT-rich interactive domain-containing protein 1B
Q8NFD5	777	837	814	814	Natural variant	ID=VAR_036257;Note=In a breast cancer sample%3B somatic mutation. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974

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
Q8NFD5	579	629	1	750	Alternative sequence	ID=VSP_040800;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11734557;Dbxref=PMID:11734557
Q8NFD5	579	629	579	579	Alternative sequence	ID=VSP_015226;Note=In isoform 2. Q->QDSGDATWKETFWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11988099;Dbxref=PMID:11988099
Q8NFD5	579	629	2	2236	Chain	ID=PRO_0000200576;Note=AT-rich interactive domain-containing protein 1B
Q8NFD5	579	629	574	633	Compositional bias	Note=Gln-rich
Q8NFD5	747	777	1	750	Alternative sequence	ID=VSP_040800;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11734557;Dbxref=PMID:11734557
Q8NFD5	747	777	2	2236	Chain	ID=PRO_0000200576;Note=AT-rich interactive domain-containing protein 1B
Q8NFD5	747	777	684	771	Compositional bias	Note=Ser-rich
Q8NFD5	747	777	771	771	Natural variant	ID=VAR_077456;Note=Found in a patient with short stature%3B unknown pathological significance. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26376624;Dbxref=PMID:26376624
Q8NFD5	777	837	2	2236	Chain	ID=PRO_0000200576;Note=AT-rich interactive domain-containing protein 1B
Q8NFD5	777	837	814	814	Natural variant	ID=VAR_036257;Note=In a breast cancer sample%3B somatic mutation. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974

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SNVs in the skipped exons for ARID1B

- 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.

ARID1B_COAD_exon_skip_454975_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
COAD	TCGA-CM-6674-01	exon_skip_454975	157192748	157192786	157192750	157192751	Frame_Shift_Del	CT	-	p.580_580del
LIHC	TCGA-DD-AADM-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405805	157405805	Frame_Shift_Del	G	-	p.S682fs
UCEC	TCGA-B5-A11V-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405951	157405951	Frame_Shift_Del	C	-	p.I718fs
UCEC	TCGA-B5-A11V-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405951	157405951	Frame_Shift_Del	C	-	p.P661fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405954	157405954	Frame_Shift_Del	G	-	p.P732fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405954	157405954	Frame_Shift_Del	G	-	p.P719fs
COAD	TCGA-CM-6171-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405960	157405960	Frame_Shift_Del	C	-	p.G721fs
STAD	TCGA-BR-8361-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405969	157405970	Frame_Shift_Del	CT	-	p.737_737del
STAD	TCGA-BR-8361-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405969	157405970	Frame_Shift_Del	CT	-	p.P724fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_454982	157431606	157431695	157431677	157431677	Frame_Shift_Del	C	-	p.P785fs
BRCA	TCGA-B6-A0WT-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454162	157454341	157454190	157454190	Frame_Shift_Del	T	-	p.Q730fs
BRCA	TCGA-B6-A0WT-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454174	157454341	157454190	157454190	Frame_Shift_Del	T	-	p.Q730fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454162	157454341	157454202	157454202	Frame_Shift_Del	G	-	p.Q804fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454174	157454341	157454202	157454202	Frame_Shift_Del	G	-	p.Q804fs
UCEC	TCGA-A5-A0GH-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454162	157454341	157454251	157454251	Frame_Shift_Del	G	-	p.G808fs
UCEC	TCGA-A5-A0GH-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454174	157454341	157454251	157454251	Frame_Shift_Del	G	-	p.G808fs
LGG	TCGA-HT-7677-01	exon_skip_454992	157469758	157470085	157469999	157469999	Frame_Shift_Del	G	-	p.M918fs
LGG	TCGA-HT-7677-01	exon_skip_454992	157469758	157470085	157469999	157469999	Frame_Shift_Del	G	-	p.M931fs
HNSC	TCGA-CV-5441-01	exon_skip_454992	157469758	157470085	157470017	157470018	Frame_Shift_Del	TG	-	p.T866fs
HNSC	TCGA-CV-5441-01	exon_skip_454992	157469758	157470085	157470017	157470018	Frame_Shift_Del	TG	-	p.TV937fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454996	157495981	157496139	157496011	157496011	Frame_Shift_Del	C	-	p.P1044fs
LIHC	TCGA-DD-A3A0-01	exon_skip_454996	157495981	157496139	157496011	157496011	Frame_Shift_Del	C	-	p.P1044fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_454996	157495981	157496139	157496011	157496011	Frame_Shift_Del	C	-	p.P1044fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454996	157495981	157496139	157496018	157496018	Frame_Shift_Del	C	-	p.T1045fs
LIHC	TCGA-BC-A112-01	exon_skip_454974	157150361	157150555	157150519	157150520	Frame_Shift_Ins	-	G	p.PG567fs
SKCM	TCGA-EE-A3AB-06	exon_skip_454980 exon_skip_454979	157405796	157406039	157405953	157405954	Frame_Shift_Ins	-	G	p.P719fs
SKCM	TCGA-EE-A3AB-06	exon_skip_454980 exon_skip_454979	157405796	157406039	157405953	157405954	Frame_Shift_Ins	-	G	p.R732fs
STAD	TCGA-BR-4280-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405953	157405954	Frame_Shift_Ins	-	G	p.P732fs
STAD	TCGA-BR-4280-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157405954	157405955	Frame_Shift_Ins	-	G	p.P719fs
LUAD	TCGA-55-7725-01	exon_skip_454992	157469758	157470085	157469810	157469811	Frame_Shift_Ins	-	G	p.P869fs
LUAD	TCGA-55-7725-01	exon_skip_454992	157469758	157470085	157469810	157469811	Frame_Shift_Ins	-	G	p.S797fs
BLCA	TCGA-FD-A6TC-01	exon_skip_454974	157150361	157150555	157150397	157150397	Nonsense_Mutation	C	T	p.Q527*
BLCA	TCGA-ZF-A9R4-01	exon_skip_454974	157150361	157150555	157150430	157150430	Nonsense_Mutation	C	T	p.Q538*
BLCA	TCGA-DK-AA74-01	exon_skip_454974	157150361	157150555	157150436	157150436	Nonsense_Mutation	C	T	p.Q540*
HNSC	TCGA-CN-A63Y-01	exon_skip_454974	157150361	157150555	157150436	157150436	Nonsense_Mutation	C	T	p.Q540*
PRAD	TCGA-HI-7168-01	exon_skip_454974	157150361	157150555	157150550	157150550	Nonsense_Mutation	C	T	p.Q578*
LIHC	TCGA-DD-AAE6-01	exon_skip_454976	157222510	157222659	157222615	157222615	Nonsense_Mutation	C	T	p.Q628X
LGG	TCGA-DU-7290-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454162	157454341	157454205	157454205	Nonsense_Mutation	T	A	p.Y792X
LGG	TCGA-DU-7290-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454162	157454341	157454205	157454205	Nonsense_Mutation	T	A	p.Y805*
LGG	TCGA-DU-7290-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454174	157454341	157454205	157454205	Nonsense_Mutation	T	A	p.Y792X
LGG	TCGA-DU-7290-01	exon_skip_454986 exon_skip_454988 exon_skip_454985	157454174	157454341	157454205	157454205	Nonsense_Mutation	T	A	p.Y805*
SKCM	TCGA-FS-A1ZT-06	exon_skip_454992	157469758	157470085	157469765	157469765	Nonsense_Mutation	C	G	p.Y840X
SKCM	TCGA-FS-A1ZT-06	exon_skip_454992	157469758	157470085	157469765	157469765	Nonsense_Mutation	C	G	p.Y853*
LUAD	TCGA-86-8073-01	exon_skip_454992	157469758	157470085	157469856	157469856	Nonsense_Mutation	G	T	p.G884*
SKCM	TCGA-D3-A8GI-06	exon_skip_454999	157519945	157520041	157519957	157519957	Nonsense_Mutation	T	A	p.Y1342*
UCEC	TCGA-D1-A0ZS-01	exon_skip_454999	157519945	157520041	157520006	157520006	Nonsense_Mutation	G	T	p.G1341*
UCEC	TCGA-D1-A0ZS-01	exon_skip_454999	157519945	157520041	157520006	157520006	Nonsense_Mutation	G	T	p.G1346*
STAD	TCGA-BR-4362-01		157525000	157525130	157525016	157525016	Nonsense_Mutation	G	A	p.W1619*
BLCA	TCGA-ZF-AA4V-01		157525000	157525130	157525063	157525063	Nonsense_Mutation	G	A	p.W1653*
UCEC	TCGA-A5-A0GA-01	exon_skip_454980 exon_skip_454979	157405796	157406039	157406041	157406042	Splice_Site	-	TA	p.G748_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CM-6171-01
	Cancer type: COAD
	ESID: exon_skip_454979
	Skipped exon start: 157405796
	Skipped exon end: 157406039
	Mutation start: 157405960
	Mutation end: 157405960
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G721fs
exon_skip_104657_COAD_TCGA-CM-6171-01.png
exon_skip_154501_COAD_TCGA-CM-6171-01.png
exon_skip_154511_COAD_TCGA-CM-6171-01.png
exon_skip_154521_COAD_TCGA-CM-6171-01.png
exon_skip_1757_COAD_TCGA-CM-6171-01.png
exon_skip_306804_COAD_TCGA-CM-6171-01.png
exon_skip_316878_COAD_TCGA-CM-6171-01.png
exon_skip_316879_COAD_TCGA-CM-6171-01.png
exon_skip_366970_COAD_TCGA-CM-6171-01.png
exon_skip_366972_COAD_TCGA-CM-6171-01.png
exon_skip_454979_COAD_TCGA-CM-6171-01.png
exon_skip_49506_COAD_TCGA-CM-6171-01.png
exon_skip_98040_COAD_TCGA-CM-6171-01.png
	Sample: TCGA-CM-6674-01
	Cancer type: COAD
	ESID: exon_skip_454975
	Skipped exon start: 157192748
	Skipped exon end: 157192786
	Mutation start: 157192750
	Mutation end: 157192751
	Mutation type: Frame_Shift_Del
	Reference seq: CT
	Mutation seq: -
	AAchange: p.580_580del
exon_skip_139341_COAD_TCGA-CM-6674-01.png
exon_skip_142268_COAD_TCGA-CM-6674-01.png
exon_skip_275_COAD_TCGA-CM-6674-01.png
exon_skip_276_COAD_TCGA-CM-6674-01.png
exon_skip_3814_COAD_TCGA-CM-6674-01.png
exon_skip_3815_COAD_TCGA-CM-6674-01.png
exon_skip_454975_COAD_TCGA-CM-6674-01.png
exon_skip_489149_COAD_TCGA-CM-6674-01.png
exon_skip_86786_COAD_TCGA-CM-6674-01.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
RL952_ENDOMETRIUM	157405796	157406039	157405954	157405954	Frame_Shift_Del	G	-	p.P719fs
EFO27_OVARY	157405796	157406039	157405960	157405960	Frame_Shift_Del	C	-	p.G721fs
MDAMB436_BREAST	157469758	157470085	157469811	157469817	Frame_Shift_Del	GGCCCAG	-	p.GPG856fs
MDAMB436_BREAST	157469758	157470085	157469813	157469816	Frame_Shift_Del	CCCA	-	p.GP858fs
OCUM1_STOMACH	157469758	157470085	157470014	157470026	Frame_Shift_Del	AACTGTGAACCGT	-	p.PTVNR923fs
EFO27_OVARY	157525000	157525130	157525076	157525077	Frame_Shift_Del	TA	-	p.I1645fs
CW2_LARGE_INTESTINE	157405796	157406039	157405953	157405954	Frame_Shift_Ins	-	G	p.PG719fs
A2780_OVARY	157469758	157470085	157470024	157470025	Frame_Shift_Ins	-	GTAAGGCACAGGAGGCA	p.-932fs
SARC9371_BONE	157405796	157406039	157405916	157405918	In_Frame_Del	TTC	-	p.F707del
MDAMB436_BREAST	157469758	157470085	157469818	157469820	In_Frame_Del	GGC	-	p.858_859GP>A
C33A_CERVIX	157150361	157150555	157150469	157150469	Missense_Mutation	G	A	p.G551S
TE10_OESOPHAGUS	157150361	157150555	157150488	157150488	Missense_Mutation	G	A	p.R557Q
HT115_LARGE_INTESTINE	157222510	157222659	157222538	157222538	Missense_Mutation	T	C	p.V589A
SNU738_CENTRAL_NERVOUS_SYSTEM	157222510	157222659	157222571	157222571	Missense_Mutation	A	G	p.Y600C
TGBC11TKB_STOMACH	157222510	157222659	157222586	157222586	Missense_Mutation	C	T	p.P605L
SNU175_LARGE_INTESTINE	157405796	157406039	157405827	157405827	Missense_Mutation	C	T	p.T677M
AN3CA_ENDOMETRIUM	157405796	157406039	157405836	157405836	Missense_Mutation	A	G	p.E680G
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	157405796	157406039	157405901	157405901	Missense_Mutation	C	T	p.P702S
NCIH747_LARGE_INTESTINE	157405796	157406039	157405925	157405925	Missense_Mutation	C	A	p.H710N
SNU324_PANCREAS	157405796	157406039	157405929	157405929	Missense_Mutation	C	T	p.A711V
SNU1197_LARGE_INTESTINE	157431606	157431695	157431650	157431650	Missense_Mutation	A	C	p.S763R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	157454162	157454341	157454231	157454231	Missense_Mutation	T	C	p.M801T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	157454174	157454341	157454231	157454231	Missense_Mutation	T	C	p.M801T
HCC1395_BREAST	157454162	157454341	157454270	157454270	Missense_Mutation	G	C	p.G814A
HCC1395_BREAST	157454174	157454341	157454270	157454270	Missense_Mutation	G	C	p.G814A
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	157454162	157454341	157454280	157454280	Missense_Mutation	C	A	p.S817R
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	157454174	157454341	157454280	157454280	Missense_Mutation	C	A	p.S817R
NCIH2110_LUNG	157454162	157454341	157454286	157454286	Missense_Mutation	G	C	p.Q819H
NCIH2110_LUNG	157454174	157454341	157454286	157454286	Missense_Mutation	G	C	p.Q819H
NCIH2291_LUNG	157454162	157454341	157454311	157454311	Missense_Mutation	G	A	p.G828S
NCIH2291_LUNG	157454174	157454341	157454311	157454311	Missense_Mutation	G	A	p.G828S
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	157469758	157470085	157469859	157469859	Missense_Mutation	C	G	p.Q872E
SNU175_LARGE_INTESTINE	157469758	157470085	157469884	157469884	Missense_Mutation	C	T	p.A880V
SNU1040_LARGE_INTESTINE	157469758	157470085	157470004	157470004	Missense_Mutation	C	T	p.P920L
JHH7_LIVER	157469758	157470085	157470009	157470009	Missense_Mutation	A	G	p.M922V
HEC108_ENDOMETRIUM	157469758	157470085	157470061	157470061	Missense_Mutation	C	T	p.A939V
C32_SKIN	157525000	157525130	157525030	157525030	Missense_Mutation	C	T	p.S1629F
NCIH2342_LUNG	157525000	157525130	157525075	157525075	Missense_Mutation	C	G	p.T1644S
JHUEM1_ENDOMETRIUM	157454162	157454341	157454287	157454287	Nonsense_Mutation	C	T	p.Q820*
JHUEM1_ENDOMETRIUM	157454174	157454341	157454287	157454287	Nonsense_Mutation	C	T	p.Q820*
OVISE_OVARY	157454162	157454341	157454310	157454310	Nonsense_Mutation	C	A	p.Y827*
OVISE_OVARY	157454174	157454341	157454310	157454310	Nonsense_Mutation	C	A	p.Y827*
IPC298_SKIN	157519945	157520041	157520015	157520015	Nonsense_Mutation	C	T	p.Q1349*
SNU1040_LARGE_INTESTINE	157525000	157525130	157525016	157525016	Nonsense_Mutation	G	A	p.W1624*
HS936T_SKIN	157525000	157525130	157525128	157525128	Nonsense_Mutation	C	T	p.Q1662*
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	157150361	157150555	157150362	157150362	Splice_Site	G	C	p.G515A
AN3CA_ENDOMETRIUM	157222510	157222659	157222510	157222510	Splice_Site	A	G	p.M580V
KLE_ENDOMETRIUM	157469758	157470085	157469758	157469759	Splice_Site	-	T	p.N839fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARID1B

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 ARID1B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARID1B

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RelatedDrugs for ARID1B

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 ARID1B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ARID1B	C0265338	Coffin-Siris syndrome	2	CTD_human;ORPHANET
ARID1B	C0027819	Neuroblastoma	1	CTD_human
ARID1B	C2239176	Liver carcinoma	1	CTD_human

	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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