ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CTNNB1

Gene summary

Gene information	Gene symbol	CTNNB1
	Gene ID	1499
	Gene name	catenin beta 1
	Synonyms	CTNNB\|EVR7\|MRD19\|armadillo
	Cytomap	3p22.1
	Type of gene	protein-coding
	Description	catenin beta-1catenin (cadherin-associated protein), beta 1, 88kDa
	Modification date	20180527
	UniProtAcc	P35222
	Context	PubMed: CTNNB1 [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
CTNNB1	GO:0008285	negative regulation of cell proliferation	12970740
CTNNB1	GO:0030997	regulation of centriole-centriole cohesion	18086858
CTNNB1	GO:0032355	response to estradiol	15304487
CTNNB1	GO:0033234	negative regulation of protein sumoylation	22155184
CTNNB1	GO:0043065	positive regulation of apoptotic process	12651860\|12970740
CTNNB1	GO:0043525	positive regulation of neuron apoptotic process	19591802
CTNNB1	GO:0045893	positive regulation of transcription, DNA-templated	12970740\|18787224
CTNNB1	GO:0045944	positive regulation of transcription by RNA polymerase II	9065402\|11751639\|12651860\|14660579\|18193033
CTNNB1	GO:0060070	canonical Wnt signaling pathway	10644691\|12937339\|19187541
CTNNB1	GO:0071681	cellular response to indole-3-methanol	10868478
CTNNB1	GO:0090279	regulation of calcium ion import	19996314
CTNNB1	GO:1904798	positive regulation of core promoter binding	22723415
CTNNB1	GO:2000008	regulation of protein localization to cell surface	19996314

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Exon skipping events across known transcript of Ensembl for CTNNB1 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 CTNNB1

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 CTNNB1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_373226	3	41240995:41241161:41265511:41265572:41266016:41266042	41265511:41265572	ENSG00000168036.12	ENST00000349496.5,ENST00000396185.3,ENST00000396183.3
exon_skip_373232	3	41265522:41265572:41265680:41265812:41266016:41266042	41265680:41265812	ENSG00000168036.12	ENST00000426215.1,ENST00000453024.1
exon_skip_373234	3	41265511:41265572:41266016:41266244:41266444:41266503	41266016:41266244	ENSG00000168036.12	ENST00000349496.5,ENST00000396185.3,ENST00000450969.1,ENST00000441708.1,ENST00000396183.3,ENST00000431914.1,ENST00000405570.1
exon_skip_373236	3	41266016:41266244:41266444:41266698:41266824:41267047	41266444:41266698	ENSG00000168036.12	ENST00000349496.5,ENST00000396185.3,ENST00000488914.1,ENST00000396183.3,ENST00000453024.1,ENST00000405570.1
exon_skip_373237	3	41267150:41267352:41268698:41268843:41274831:41274935	41268698:41268843	ENSG00000168036.12	ENST00000349496.5,ENST00000396185.3,ENST00000396183.3,ENST00000453024.1,ENST00000405570.1
exon_skip_373238	3	41275644:41275788:41277214:41277334:41277839:41277990	41277214:41277334	ENSG00000168036.12	ENST00000349496.5,ENST00000396185.3,ENST00000465552.1,ENST00000396183.3,ENST00000453024.1,ENST00000405570.1
exon_skip_373246	3	41278078:41278200:41279506:41279567:41280624:41280844	41279506:41279567	ENSG00000168036.12	ENST00000349496.5,ENST00000396185.3,ENST00000396183.3,ENST00000453024.1,ENST00000405570.1
exon_skip_373271	3	41279506:41279567:41280624:41280845:41281150:41281227	41280624:41280845	ENSG00000168036.12	ENST00000396185.3,ENST00000453024.1
exon_skip_373273	3	41279506:41279567:41280624:41280845:41281309:41281934	41280624:41280845	ENSG00000168036.12	ENST00000396183.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CTNNB1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_373226	3	41240995:41241161:41265511:41265572:41266016:41266042	41265511:41265572	ENSG00000168036.12	ENST00000396183.3,ENST00000349496.5,ENST00000396185.3
exon_skip_373232	3	41265522:41265572:41265680:41265812:41266016:41266042	41265680:41265812	ENSG00000168036.12	ENST00000426215.1,ENST00000453024.1
exon_skip_373236	3	41266016:41266244:41266444:41266698:41266824:41267047	41266444:41266698	ENSG00000168036.12	ENST00000405570.1,ENST00000396183.3,ENST00000349496.5,ENST00000453024.1,ENST00000396185.3,ENST00000488914.1
exon_skip_373237	3	41267150:41267352:41268698:41268843:41274831:41274935	41268698:41268843	ENSG00000168036.12	ENST00000405570.1,ENST00000396183.3,ENST00000349496.5,ENST00000453024.1,ENST00000396185.3
exon_skip_373238	3	41275644:41275788:41277214:41277334:41277839:41277990	41277214:41277334	ENSG00000168036.12	ENST00000405570.1,ENST00000396183.3,ENST00000349496.5,ENST00000453024.1,ENST00000396185.3,ENST00000465552.1
exon_skip_373246	3	41278078:41278200:41279506:41279567:41280624:41280844	41279506:41279567	ENSG00000168036.12	ENST00000405570.1,ENST00000396183.3,ENST00000349496.5,ENST00000453024.1,ENST00000396185.3
exon_skip_373271	3	41279506:41279567:41280624:41280845:41281150:41281227	41280624:41280845	ENSG00000168036.12	ENST00000453024.1,ENST00000396185.3
exon_skip_373273	3	41279506:41279567:41280624:41280845:41281309:41281934	41280624:41280845	ENSG00000168036.12	ENST00000396183.3

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 CTNNB1

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
ENST00000396183	41280624	41280845	3UTR-3CDS
ENST00000396185	41280624	41280845	3UTR-3CDS
ENST00000349496	41265511	41265572	5CDS-5UTR
ENST00000396183	41265511	41265572	5CDS-5UTR
ENST00000396185	41265511	41265572	5CDS-5UTR
ENST00000349496	41266444	41266698	Frame-shift
ENST00000396183	41266444	41266698	Frame-shift
ENST00000396185	41266444	41266698	Frame-shift
ENST00000405570	41266444	41266698	Frame-shift
ENST00000349496	41268698	41268843	Frame-shift
ENST00000396183	41268698	41268843	Frame-shift
ENST00000396185	41268698	41268843	Frame-shift
ENST00000405570	41268698	41268843	Frame-shift
ENST00000349496	41279506	41279567	Frame-shift
ENST00000396183	41279506	41279567	Frame-shift
ENST00000396185	41279506	41279567	Frame-shift
ENST00000405570	41279506	41279567	Frame-shift
ENST00000349496	41266016	41266244	In-frame
ENST00000396183	41266016	41266244	In-frame
ENST00000396185	41266016	41266244	In-frame
ENST00000405570	41266016	41266244	In-frame
ENST00000349496	41277214	41277334	In-frame
ENST00000396183	41277214	41277334	In-frame
ENST00000396185	41277214	41277334	In-frame
ENST00000405570	41277214	41277334	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
ENST00000396183	41280624	41280845	3UTR-3CDS
ENST00000396185	41280624	41280845	3UTR-3CDS
ENST00000349496	41265511	41265572	5CDS-5UTR
ENST00000396183	41265511	41265572	5CDS-5UTR
ENST00000396185	41265511	41265572	5CDS-5UTR
ENST00000349496	41266444	41266698	Frame-shift
ENST00000396183	41266444	41266698	Frame-shift
ENST00000396185	41266444	41266698	Frame-shift
ENST00000405570	41266444	41266698	Frame-shift
ENST00000349496	41268698	41268843	Frame-shift
ENST00000396183	41268698	41268843	Frame-shift
ENST00000396185	41268698	41268843	Frame-shift
ENST00000405570	41268698	41268843	Frame-shift
ENST00000349496	41279506	41279567	Frame-shift
ENST00000396183	41279506	41279567	Frame-shift
ENST00000396185	41279506	41279567	Frame-shift
ENST00000405570	41279506	41279567	Frame-shift
ENST00000349496	41277214	41277334	In-frame
ENST00000396183	41277214	41277334	In-frame
ENST00000396185	41277214	41277334	In-frame
ENST00000405570	41277214	41277334	In-frame

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Infer the effects of exon skipping event on protein functional features for CTNNB1

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
ENST00000349496	3746	781	41266016	41266244	294	521	4	80
ENST00000396183	3285	781	41266016	41266244	299	526	4	80
ENST00000396185	3373	781	41266016	41266244	228	455	4	80
ENST00000405570	2530	781	41266016	41266244	170	397	4	80
ENST00000349496	3746	781	41277214	41277334	1964	2083	561	601
ENST00000396183	3285	781	41277214	41277334	1969	2088	561	601
ENST00000396185	3373	781	41277214	41277334	1898	2017	561	601
ENST00000405570	2530	781	41277214	41277334	1840	1959	561	601

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
ENST00000349496	3746	781	41277214	41277334	1964	2083	561	601
ENST00000396183	3285	781	41277214	41277334	1969	2088	561	601
ENST00000396185	3373	781	41277214	41277334	1898	2017	561	601
ENST00000405570	2530	781	41277214	41277334	1840	1959	561	601

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
P35222	4	80	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	4	80	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	4	80	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	4	80	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	4	80	23	23	Glycosylation	Note=O-linked (GlcNAc) serine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24342833;Dbxref=PMID:24342833
P35222	4	80	23	23	Glycosylation	Note=O-linked (GlcNAc) serine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24342833;Dbxref=PMID:24342833
P35222	4	80	23	23	Glycosylation	Note=O-linked (GlcNAc) serine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24342833;Dbxref=PMID:24342833
P35222	4	80	23	23	Glycosylation	Note=O-linked (GlcNAc) serine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24342833;Dbxref=PMID:24342833
P35222	4	80	23	23	Modified residue	Note=Phosphoserine%3B by GSK3-beta%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	23	23	Modified residue	Note=Phosphoserine%3B by GSK3-beta%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	23	23	Modified residue	Note=Phosphoserine%3B by GSK3-beta%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	23	23	Modified residue	Note=Phosphoserine%3B by GSK3-beta%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Modified residue	Note=Phosphoserine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Modified residue	Note=Phosphoserine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Modified residue	Note=Phosphoserine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Modified residue	Note=Phosphoserine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	33	33	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20307497,ECO:0000269\|PubMed:25169422;Dbxref=PMID:20307497,PMID:25169422
P35222	4	80	33	33	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20307497,ECO:0000269\|PubMed:25169422;Dbxref=PMID:20307497,PMID:25169422
P35222	4	80	33	33	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20307497,ECO:0000269\|PubMed:25169422;Dbxref=PMID:20307497,PMID:25169422
P35222	4	80	33	33	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20307497,ECO:0000269\|PubMed:25169422;Dbxref=PMID:20307497,PMID:25169422
P35222	4	80	37	37	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20307497;Dbxref=PMID:20307497
P35222	4	80	37	37	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20307497;Dbxref=PMID:20307497
P35222	4	80	37	37	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20307497;Dbxref=PMID:20307497
P35222	4	80	37	37	Modified residue	Note=Phosphoserine%3B by GSK3-beta and HIPK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20307497;Dbxref=PMID:20307497
P35222	4	80	41	41	Modified residue	Note=Phosphothreonine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	41	41	Modified residue	Note=Phosphothreonine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	41	41	Modified residue	Note=Phosphothreonine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	41	41	Modified residue	Note=Phosphothreonine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	45	45	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12051714;Dbxref=PMID:12051714
P35222	4	80	45	45	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12051714;Dbxref=PMID:12051714
P35222	4	80	45	45	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12051714;Dbxref=PMID:12051714
P35222	4	80	45	45	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12051714;Dbxref=PMID:12051714
P35222	4	80	49	49	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24824780;Dbxref=PMID:24824780
P35222	4	80	49	49	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24824780;Dbxref=PMID:24824780
P35222	4	80	49	49	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24824780;Dbxref=PMID:24824780
P35222	4	80	49	49	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24824780;Dbxref=PMID:24824780
P35222	4	80	64	64	Modified residue	Note=Phosphotyrosine%3B by PTK6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	64	64	Modified residue	Note=Phosphotyrosine%3B by PTK6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	64	64	Modified residue	Note=Phosphotyrosine%3B by PTK6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	64	64	Modified residue	Note=Phosphotyrosine%3B by PTK6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	29	29	Mutagenesis	Note=No effect. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Mutagenesis	Note=No effect. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Mutagenesis	Note=No effect. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	29	29	Mutagenesis	Note=No effect. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12027456;Dbxref=PMID:12027456
P35222	4	80	64	64	Mutagenesis	Note=Abolishes phosphorylation by PTK6. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	64	64	Mutagenesis	Note=Abolishes phosphorylation by PTK6. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	64	64	Mutagenesis	Note=Abolishes phosphorylation by PTK6. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	64	64	Mutagenesis	Note=Abolishes phosphorylation by PTK6. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20026641;Dbxref=PMID:20026641
P35222	4	80	23	23	Natural variant	ID=VAR_017612;Note=In hepatocellular carcinoma%3B no effect. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:12027456;Dbxref=dbSNP:rs1413975856,PMID:10435629,PMID:12027456
P35222	4	80	23	23	Natural variant	ID=VAR_017612;Note=In hepatocellular carcinoma%3B no effect. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:12027456;Dbxref=dbSNP:rs1413975856,PMID:10435629,PMID:12027456
P35222	4	80	23	23	Natural variant	ID=VAR_017612;Note=In hepatocellular carcinoma%3B no effect. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:12027456;Dbxref=dbSNP:rs1413975856,PMID:10435629,PMID:12027456
P35222	4	80	23	23	Natural variant	ID=VAR_017612;Note=In hepatocellular carcinoma%3B no effect. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:12027456;Dbxref=dbSNP:rs1413975856,PMID:10435629,PMID:12027456
P35222	4	80	25	33	Natural variant	ID=VAR_017613;Note=In hepatocellular carcinoma. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	25	33	Natural variant	ID=VAR_017613;Note=In hepatocellular carcinoma. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	25	33	Natural variant	ID=VAR_017613;Note=In hepatocellular carcinoma. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	25	33	Natural variant	ID=VAR_017613;Note=In hepatocellular carcinoma. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017614;Note=In hepatocellular carcinoma. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017614;Note=In hepatocellular carcinoma. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017614;Note=In hepatocellular carcinoma. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017614;Note=In hepatocellular carcinoma. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017615;Note=In PTR and hepatocellular carcinoma. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10192393,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017615;Note=In PTR and hepatocellular carcinoma. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10192393,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017615;Note=In PTR and hepatocellular carcinoma. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10192393,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017615;Note=In PTR and hepatocellular carcinoma. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913396,PMID:10192393,PMID:10435629
P35222	4	80	32	32	Natural variant	ID=VAR_017616;Note=In PTR%2C hepatoblastoma and hepatocellular carcinoma. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:11703283,ECO:0000269\|PubMed:99
P35222	4	80	32	32	Natural variant	ID=VAR_017616;Note=In PTR%2C hepatoblastoma and hepatocellular carcinoma. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:11703283,ECO:0000269\|PubMed:99
P35222	4	80	32	32	Natural variant	ID=VAR_017616;Note=In PTR%2C hepatoblastoma and hepatocellular carcinoma. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:11703283,ECO:0000269\|PubMed:99
P35222	4	80	32	32	Natural variant	ID=VAR_017616;Note=In PTR%2C hepatoblastoma and hepatocellular carcinoma. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:11703283,ECO:0000269\|PubMed:99
P35222	4	80	33	33	Natural variant	ID=VAR_017617;Note=In PTR%2C MDB and hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372;Dbxref=dbSNP:rs121913400,PMID:10192393,PMID:
P35222	4	80	33	33	Natural variant	ID=VAR_017617;Note=In PTR%2C MDB and hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372;Dbxref=dbSNP:rs121913400,PMID:10192393,PMID:
P35222	4	80	33	33	Natural variant	ID=VAR_017617;Note=In PTR%2C MDB and hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372;Dbxref=dbSNP:rs121913400,PMID:10192393,PMID:
P35222	4	80	33	33	Natural variant	ID=VAR_017617;Note=In PTR%2C MDB and hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372;Dbxref=dbSNP:rs121913400,PMID:10192393,PMID:
P35222	4	80	33	33	Natural variant	ID=VAR_017618;Note=In hepatocellular carcinoma. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	33	33	Natural variant	ID=VAR_017618;Note=In hepatocellular carcinoma. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	33	33	Natural variant	ID=VAR_017618;Note=In hepatocellular carcinoma. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	33	33	Natural variant	ID=VAR_017618;Note=In hepatocellular carcinoma. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	33	33	Natural variant	ID=VAR_017619;Note=In colorectal cancer and PTR%3B enhances transactivation of target genes. S->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:12027456,ECO:0000269\|PubMed:9065402;Dbxref=dbSNP:rs
P35222	4	80	33	33	Natural variant	ID=VAR_017619;Note=In colorectal cancer and PTR%3B enhances transactivation of target genes. S->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:12027456,ECO:0000269\|PubMed:9065402;Dbxref=dbSNP:rs
P35222	4	80	33	33	Natural variant	ID=VAR_017619;Note=In colorectal cancer and PTR%3B enhances transactivation of target genes. S->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:12027456,ECO:0000269\|PubMed:9065402;Dbxref=dbSNP:rs
P35222	4	80	33	33	Natural variant	ID=VAR_017619;Note=In colorectal cancer and PTR%3B enhances transactivation of target genes. S->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:12027456,ECO:0000269\|PubMed:9065402;Dbxref=dbSNP:rs
P35222	4	80	34	34	Natural variant	ID=VAR_017620;Note=In PTR. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs28931589,PMID:10192393
P35222	4	80	34	34	Natural variant	ID=VAR_017620;Note=In PTR. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs28931589,PMID:10192393
P35222	4	80	34	34	Natural variant	ID=VAR_017620;Note=In PTR. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs28931589,PMID:10192393
P35222	4	80	34	34	Natural variant	ID=VAR_017620;Note=In PTR. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs28931589,PMID:10192393
P35222	4	80	34	34	Natural variant	ID=VAR_017621;Note=In hepatocellular carcinoma. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913399,PMID:10435629
P35222	4	80	34	34	Natural variant	ID=VAR_017621;Note=In hepatocellular carcinoma. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913399,PMID:10435629
P35222	4	80	34	34	Natural variant	ID=VAR_017621;Note=In hepatocellular carcinoma. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913399,PMID:10435629
P35222	4	80	34	34	Natural variant	ID=VAR_017621;Note=In hepatocellular carcinoma. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913399,PMID:10435629
P35222	4	80	34	34	Natural variant	ID=VAR_017622;Note=In hepatoblastoma. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs28931589,PMID:9927029
P35222	4	80	34	34	Natural variant	ID=VAR_017622;Note=In hepatoblastoma. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs28931589,PMID:9927029
P35222	4	80	34	34	Natural variant	ID=VAR_017622;Note=In hepatoblastoma. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs28931589,PMID:9927029
P35222	4	80	34	34	Natural variant	ID=VAR_017622;Note=In hepatoblastoma. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs28931589,PMID:9927029
P35222	4	80	35	35	Natural variant	ID=VAR_017623;Note=In hepatocellular carcinoma. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	35	35	Natural variant	ID=VAR_017623;Note=In hepatocellular carcinoma. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	35	35	Natural variant	ID=VAR_017623;Note=In hepatocellular carcinoma. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	35	35	Natural variant	ID=VAR_017623;Note=In hepatocellular carcinoma. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	37	38	Natural variant	ID=VAR_017628;Note=In hepatocellular carcinoma. SG->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	37	38	Natural variant	ID=VAR_017628;Note=In hepatocellular carcinoma. SG->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	37	38	Natural variant	ID=VAR_017628;Note=In hepatocellular carcinoma. SG->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	37	38	Natural variant	ID=VAR_017628;Note=In hepatocellular carcinoma. SG->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=PMID:10435629
P35222	4	80	37	37	Natural variant	ID=VAR_017624;Note=In MDB and hepatocellular carcinoma%3B enhances transactivation of target genes. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372,ECO:0000269\|PubMed:12027456;Dbxref=
P35222	4	80	37	37	Natural variant	ID=VAR_017624;Note=In MDB and hepatocellular carcinoma%3B enhances transactivation of target genes. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372,ECO:0000269\|PubMed:12027456;Dbxref=
P35222	4	80	37	37	Natural variant	ID=VAR_017624;Note=In MDB and hepatocellular carcinoma%3B enhances transactivation of target genes. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372,ECO:0000269\|PubMed:12027456;Dbxref=
P35222	4	80	37	37	Natural variant	ID=VAR_017624;Note=In MDB and hepatocellular carcinoma%3B enhances transactivation of target genes. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10435629,ECO:0000269\|PubMed:10666372,ECO:0000269\|PubMed:12027456;Dbxref=
P35222	4	80	37	37	Natural variant	ID=VAR_017625;Note=In PTR%2C hepatoblastoma and ovarian cancer. S->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs121913403,PMID:10192393,PMID:
P35222	4	80	37	37	Natural variant	ID=VAR_017625;Note=In PTR%2C hepatoblastoma and ovarian cancer. S->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs121913403,PMID:10192393,PMID:
P35222	4	80	37	37	Natural variant	ID=VAR_017625;Note=In PTR%2C hepatoblastoma and ovarian cancer. S->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs121913403,PMID:10192393,PMID:
P35222	4	80	37	37	Natural variant	ID=VAR_017625;Note=In PTR%2C hepatoblastoma and ovarian cancer. S->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:9927029;Dbxref=dbSNP:rs121913403,PMID:10192393,PMID:
P35222	4	80	37	37	Natural variant	ID=VAR_017626;Note=In PTR. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs121913403,PMID:10192393
P35222	4	80	37	37	Natural variant	ID=VAR_017626;Note=In PTR. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs121913403,PMID:10192393
P35222	4	80	37	37	Natural variant	ID=VAR_017626;Note=In PTR. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs121913403,PMID:10192393
P35222	4	80	37	37	Natural variant	ID=VAR_017626;Note=In PTR. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10192393;Dbxref=dbSNP:rs121913403,PMID:10192393
P35222	4	80	37	37	Natural variant	ID=VAR_017627;Note=In hepatocellular carcinoma. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913403,PMID:10435629
P35222	4	80	37	37	Natural variant	ID=VAR_017627;Note=In hepatocellular carcinoma. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913403,PMID:10435629
P35222	4	80	37	37	Natural variant	ID=VAR_017627;Note=In hepatocellular carcinoma. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913403,PMID:10435629
P35222	4	80	37	37	Natural variant	ID=VAR_017627;Note=In hepatocellular carcinoma. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913403,PMID:10435629
P35222	4	80	41	41	Natural variant	ID=VAR_017629;Note=In hepatoblastoma and hepatocellular carcinoma%3B also in a desmoid tumor%3B strongly reduces phosphorylation and degradation%3B abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes. T->A;Ontology_
P35222	4	80	41	41	Natural variant	ID=VAR_017629;Note=In hepatoblastoma and hepatocellular carcinoma%3B also in a desmoid tumor%3B strongly reduces phosphorylation and degradation%3B abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes. T->A;Ontology_
P35222	4	80	41	41	Natural variant	ID=VAR_017629;Note=In hepatoblastoma and hepatocellular carcinoma%3B also in a desmoid tumor%3B strongly reduces phosphorylation and degradation%3B abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes. T->A;Ontology_
P35222	4	80	41	41	Natural variant	ID=VAR_017629;Note=In hepatoblastoma and hepatocellular carcinoma%3B also in a desmoid tumor%3B strongly reduces phosphorylation and degradation%3B abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes. T->A;Ontology_
P35222	4	80	41	41	Natural variant	ID=VAR_017630;Note=In PTR%2C hepatocellular carcinoma and ovarian cancer. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913413,PMID:101
P35222	4	80	41	41	Natural variant	ID=VAR_017630;Note=In PTR%2C hepatocellular carcinoma and ovarian cancer. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913413,PMID:101
P35222	4	80	41	41	Natural variant	ID=VAR_017630;Note=In PTR%2C hepatocellular carcinoma and ovarian cancer. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913413,PMID:101
P35222	4	80	41	41	Natural variant	ID=VAR_017630;Note=In PTR%2C hepatocellular carcinoma and ovarian cancer. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10192393,ECO:0000269\|PubMed:10391090,ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913413,PMID:101
P35222	4	80	45	45	Natural variant	ID=VAR_017631;Note=In hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913409,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017631;Note=In hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913409,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017631;Note=In hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913409,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017631;Note=In hepatocellular carcinoma. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913409,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017632;Note=In hepatocellular carcinoma. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913407,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017632;Note=In hepatocellular carcinoma. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913407,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017632;Note=In hepatocellular carcinoma. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913407,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_017632;Note=In hepatocellular carcinoma. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10435629;Dbxref=dbSNP:rs121913407,PMID:10435629
P35222	4	80	45	45	Natural variant	ID=VAR_055430;Note=In colorectal cancer. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9065402;Dbxref=PMID:9065402
P35222	4	80	45	45	Natural variant	ID=VAR_055430;Note=In colorectal cancer. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9065402;Dbxref=PMID:9065402
P35222	4	80	45	45	Natural variant	ID=VAR_055430;Note=In colorectal cancer. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9065402;Dbxref=PMID:9065402
P35222	4	80	45	45	Natural variant	ID=VAR_055430;Note=In colorectal cancer. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9065402;Dbxref=PMID:9065402
P35222	4	80	2	23	Region	Note=Interaction with VCL;Ontology_term=ECO:0000250;evidence=ECO:0000250
P35222	4	80	2	23	Region	Note=Interaction with VCL;Ontology_term=ECO:0000250;evidence=ECO:0000250
P35222	4	80	2	23	Region	Note=Interaction with VCL;Ontology_term=ECO:0000250;evidence=ECO:0000250
P35222	4	80	2	23	Region	Note=Interaction with VCL;Ontology_term=ECO:0000250;evidence=ECO:0000250
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	594	636	Repeat	Note=ARM 11
P35222	561	601	594	636	Repeat	Note=ARM 11
P35222	561	601	594	636	Repeat	Note=ARM 11
P35222	561	601	594	636	Repeat	Note=ARM 11

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
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	561	563	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1T08
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	2	781	Chain	ID=PRO_0000064271;Note=Catenin beta-1
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	566	580	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	584	592	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	596	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JDH
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	558	781	Natural variant	ID=VAR_079199;Note=In MRD19%3B the patient also manifest features of exudative vitreoretinopathy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28514307;Dbxref=PMID:28514307
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	531	571	Repeat	Note=ARM 10
P35222	561	601	594	636	Repeat	Note=ARM 11
P35222	561	601	594	636	Repeat	Note=ARM 11
P35222	561	601	594	636	Repeat	Note=ARM 11
P35222	561	601	594	636	Repeat	Note=ARM 11

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SNVs in the skipped exons for CTNNB1

- 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.

CTNNB1_COAD_exon_skip_373234_psi_boxplot.png
boxplot

CTNNB1_ESCA_exon_skip_373234_psi_boxplot.png
boxplot

CTNNB1_LIHC_exon_skip_373234_psi_boxplot.png
boxplot

CTNNB1_SKCM_exon_skip_373234_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
ACC	TCGA-OR-A5K6-01	exon_skip_373234	41266017	41266244	41266117	41266139	Frame_Shift_Del	TGCCACTACCACAGCTCCTTCTC	-	p.38_45del
ACC	TCGA-OR-A5K6-01	exon_skip_373234	41266017	41266244	41266117	41266139	Frame_Shift_Del	TGCCACTACCACAGCTCCTTCTC	-	p.GATTTAPSL38fs
LIHC	TCGA-BC-A10U-01	exon_skip_373234	41266017	41266244	41266138	41266138	Frame_Shift_Del	T	-	p.S45fs
STAD	TCGA-BR-6452-01	exon_skip_373236	41266445	41266698	41266654	41266654	Frame_Shift_Del	C	-	p.T150fs
LIHC	TCGA-DD-A39Y-01	exon_skip_373236	41266445	41266698	41266674	41266674	Frame_Shift_Del	A	-	p.T157fs
STAD	TCGA-B7-5816-01	exon_skip_373237	41268699	41268843	41268763	41268763	Frame_Shift_Del	A	-	p.E334fs
LIHC	TCGA-DD-A1EG-01	exon_skip_373238	41277215	41277334	41277292	41277292	Frame_Shift_Del	A	-	p.R587fs
ACC	TCGA-OR-A5J2-01	exon_skip_373234	41266017	41266244	41266091	41266092	Frame_Shift_Ins	-	A	p.P30fs
ACC	TCGA-OR-A5J2-01	exon_skip_373234	41266017	41266244	41266091	41266092	Frame_Shift_Ins	-	A	p.Y30_L31delinsX
LIHC	TCGA-BC-A10U-01	exon_skip_373234	41266017	41266244	41266132	41266133	Frame_Shift_Ins	-	C	p.A43fs
LIHC	TCGA-BC-A10U-01	exon_skip_373234	41266017	41266244	41266132	41266133	Frame_Shift_Ins	-	C	p.F44fs
SKCM	TCGA-EE-A182-06	exon_skip_373234	41266017	41266244	41266077	41266077	Nonsense_Mutation	G	A	p.W25*
COAD	TCGA-CA-6717-01	exon_skip_373234	41266017	41266244	41266078	41266078	Nonsense_Mutation	G	A	p.W25X
ACC	TCGA-OR-A5J2-01	exon_skip_373234	41266017	41266244	41266091	41266092	Nonsense_Mutation	-	A	p.Y30_L31delinsX
ESCA	TCGA-L5-A8NR-01	exon_skip_373234	41266017	41266244	41266205	41266205	Nonsense_Mutation	C	T	p.Q68*
ESCA	TCGA-L5-A8NR-01	exon_skip_373234	41266017	41266244	41266205	41266205	Nonsense_Mutation	C	T	p.Q68X
HNSC	TCGA-P3-A6SW-01	exon_skip_373236	41266445	41266698	41266471	41266471	Nonsense_Mutation	C	T	p.R90*
STAD	TCGA-CG-5721-01	exon_skip_373236	41266445	41266698	41266486	41266486	Nonsense_Mutation	C	T	p.R95*
STAD	TCGA-CG-5721-01	exon_skip_373236	41266445	41266698	41266486	41266486	Nonsense_Mutation	C	T	p.R95X
ESCA	TCGA-L5-A8NQ-01	exon_skip_373237	41268699	41268843	41268822	41268822	Nonsense_Mutation	A	T	p.K354*
ESCA	TCGA-R6-A8W5-01	exon_skip_373238	41277215	41277334	41277242	41277242	Nonsense_Mutation	G	T	p.E571*
ESCA	TCGA-R6-A8W5-01	exon_skip_373238	41277215	41277334	41277242	41277242	Nonsense_Mutation	G	T	p.E571X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-L5-A8NR-01
	Cancer type: ESCA
	ESID: exon_skip_373234
	Skipped exon start: 41266017
	Skipped exon end: 41266244
	Mutation start: 41266205
	Mutation end: 41266205
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q68X
	Sample: TCGA-L5-A8NR-01
	Cancer type: ESCA
	ESID: exon_skip_373234
	Skipped exon start: 41266017
	Skipped exon end: 41266244
	Mutation start: 41266205
	Mutation end: 41266205
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q68*
exon_skip_373234_ESCA_TCGA-L5-A8NR-01.png
exon_skip_384513_ESCA_TCGA-L5-A8NR-01.png
exon_skip_460368_ESCA_TCGA-L5-A8NR-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
HS936T_SKIN	41266017	41266244	41266034	41266035	Frame_Shift_Ins	-	A	p.D11fs
MM127_SKIN	41266017	41266244	41266134	41266136	In_Frame_Del	CTT	-	p.S45del
COLO783_SKIN	41266017	41266244	41266134	41266136	In_Frame_Del	CTT	-	p.S45del
HCT116_LARGE_INTESTINE	41266017	41266244	41266134	41266136	In_Frame_Del	CTT	-	p.S45del
NCIH1092_LUNG	41266017	41266244	41266020	41266020	Missense_Mutation	A	G	p.D6G
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41266017	41266244	41266035	41266035	Missense_Mutation	A	G	p.D11G
OVCAR8_OVARY	41266017	41266244	41266080	41266080	Missense_Mutation	A	G	p.Q26R
SCS214_SOFT_TISSUE	41266017	41266244	41266097	41266097	Missense_Mutation	G	T	p.D32Y
KE39_STOMACH	41266017	41266244	41266097	41266097	Missense_Mutation	G	A	p.D32N
HEC265_ENDOMETRIUM	41266017	41266244	41266098	41266098	Missense_Mutation	A	T	p.D32V
HEC6_ENDOMETRIUM	41266017	41266244	41266098	41266098	Missense_Mutation	A	T	p.D32V
HCC2108_LUNG	41266017	41266244	41266100	41266101	Missense_Mutation	TC	CT	p.S33L
MORCPR_LUNG	41266017	41266244	41266100	41266101	Missense_Mutation	TC	CT	p.S33L
MORCPR_LUNG	41266017	41266244	41266100	41266100	Missense_Mutation	T	C	p.S33P
SW1573_LUNG	41266017	41266244	41266101	41266101	Missense_Mutation	C	T	p.S33F
SW48_LARGE_INTESTINE	41266017	41266244	41266101	41266101	Missense_Mutation	C	A	p.S33Y
SKMEL1_SKIN	41266017	41266244	41266101	41266101	Missense_Mutation	C	G	p.S33C
MORCPR_LUNG	41266017	41266244	41266101	41266101	Missense_Mutation	C	T	p.S33F
SYO1_SOFT_TISSUE	41266017	41266244	41266103	41266104	Missense_Mutation	GG	TT	p.G34L
HUH6_LIVER	41266017	41266244	41266104	41266104	Missense_Mutation	G	T	p.G34V
SNU719_STOMACH	41266017	41266244	41266104	41266104	Missense_Mutation	G	T	p.G34V
AGS_STOMACH	41266017	41266244	41266104	41266104	Missense_Mutation	G	A	p.G34E
HUH6CLONE5_LIVER	41266017	41266244	41266104	41266104	Missense_Mutation	G	T	p.G34V
HEC108_ENDOMETRIUM	41266017	41266244	41266112	41266112	Missense_Mutation	T	C	p.S37P
SNGM_ENDOMETRIUM	41266017	41266244	41266112	41266112	Missense_Mutation	T	C	p.S37P
TOV112D_OVARY	41266017	41266244	41266112	41266112	Missense_Mutation	T	G	p.S37A
HS571T_OVARY	41266017	41266244	41266112	41266112	Missense_Mutation	T	G	p.S37A
JHUEM2_ENDOMETRIUM	41266017	41266244	41266113	41266113	Missense_Mutation	C	G	p.S37C
HUTU80_SMALL_INTESTINE	41266017	41266244	41266113	41266113	Missense_Mutation	C	T	p.S37F
OVMIU_OVARY	41266017	41266244	41266113	41266113	Missense_Mutation	C	T	p.S37F
SNU398_LIVER	41266017	41266244	41266113	41266113	Missense_Mutation	C	G	p.S37C
A427_LUNG	41266017	41266244	41266124	41266124	Missense_Mutation	A	G	p.T41A
CCK81_LARGE_INTESTINE	41266017	41266244	41266124	41266124	Missense_Mutation	A	G	p.T41A
SNU407_LARGE_INTESTINE	41266017	41266244	41266124	41266124	Missense_Mutation	A	G	p.T41A
LIM1215_LARGE_INTESTINE	41266017	41266244	41266124	41266124	Missense_Mutation	A	G	p.T41A
LXF289_LUNG	41266017	41266244	41266124	41266124	Missense_Mutation	A	G	p.T41A
SNU869_BILIARY_TRACT	41266017	41266244	41266136	41266136	Missense_Mutation	T	C	p.S45P
OCUM1_STOMACH	41266017	41266244	41266137	41266137	Missense_Mutation	C	G	p.S45C
HCC15_LUNG	41266017	41266244	41266137	41266137	Missense_Mutation	C	T	p.S45F
LS180_LARGE_INTESTINE	41266017	41266244	41266137	41266137	Missense_Mutation	C	T	p.S45F
NCIH358_LUNG	41266017	41266244	41266226	41266226	Missense_Mutation	A	G	p.T75A
SCH_STOMACH	41266445	41266698	41266546	41266546	Missense_Mutation	G	T	p.D115Y
SNU1040_LARGE_INTESTINE	41266445	41266698	41266607	41266607	Missense_Mutation	C	T	p.A135V
SNU1040_LARGE_INTESTINE	41266445	41266698	41266655	41266655	Missense_Mutation	G	A	p.R151H
SNU81_LARGE_INTESTINE	41268699	41268843	41268762	41268762	Missense_Mutation	G	A	p.E334K
PL18_PANCREAS	41277215	41277334	41277275	41277275	Missense_Mutation	C	T	p.R582W
CW2_LARGE_INTESTINE	41277215	41277334	41277276	41277276	Missense_Mutation	G	A	p.R582Q
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41277215	41277334	41277329	41277329	Missense_Mutation	G	T	p.V600L
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41280625	41280845	41280704	41280704	Missense_Mutation	G	A	p.M739I
GP2D_LARGE_INTESTINE	41280625	41280845	41280751	41280751	Missense_Mutation	A	T	p.D755V
HEC59_ENDOMETRIUM	41280625	41280845	41280802	41280802	Missense_Mutation	A	G	p.N772S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTNNB1

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 CTNNB1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTNNB1

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RelatedDrugs for CTNNB1

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
	P35222	DB03904	Urea	Catenin beta-1	small molecule	approved\|investigational

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RelatedDiseases for CTNNB1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CTNNB1	C0009375	Colonic Neoplasms	9	CTD_human
CTNNB1	C0206711	Pilomatrixoma	8	CTD_human;HPO;ORPHANET;UNIPROT
CTNNB1	C0009404	Colorectal Neoplasms	4	CTD_human
CTNNB1	C0001418	Adenocarcinoma	3	CTD_human
CTNNB1	C0023904	Liver Neoplasms, Experimental	3	CTD_human
CTNNB1	C0025149	Medulloblastoma	3	CTD_human;HPO;UNIPROT
CTNNB1	C1527249	Colorectal Cancer	3	UNIPROT
CTNNB1	C1879526	Aberrant Crypt Foci	3	CTD_human
CTNNB1	C2239176	Liver carcinoma	3	CTD_human;HPO
CTNNB1	C0001430	Adenoma	2	CTD_human
CTNNB1	C0023903	Liver neoplasms	2	CTD_human
CTNNB1	C0036341	Schizophrenia	2	PSYGENET
CTNNB1	C1458155	Mammary Neoplasms	2	CTD_human
CTNNB1	C0001624	Adrenal Gland Neoplasms	1	CTD_human
CTNNB1	C0007528	Cecal Neoplasms	1	CTD_human
CTNNB1	C0007873	Uterine Cervical Neoplasm	1	CTD_human
CTNNB1	C0010276	Craniopharyngioma	1	CTD_human;ORPHANET
CTNNB1	C0018923	Hemangiosarcoma	1	CTD_human
CTNNB1	C0021841	Intestinal Neoplasms	1	CTD_human
CTNNB1	C0023890	Liver Cirrhosis	1	CTD_human
CTNNB1	C0024121	Lung Neoplasms	1	CTD_human
CTNNB1	C0026846	Muscular Atrophy	1	CTD_human
CTNNB1	C0027626	Neoplasm Invasiveness	1	CTD_human
CTNNB1	C0027708	Nephroblastoma	1	CTD_human
CTNNB1	C0027746	Nerve Degeneration	1	CTD_human
CTNNB1	C0030297	Pancreatic Neoplasm	1	CTD_human
CTNNB1	C0031149	Peritoneal Neoplasms	1	CTD_human
CTNNB1	C0033578	Prostatic Neoplasms	1	CTD_human
CTNNB1	C0038325	Stevens-Johnson Syndrome	1	CTD_human
CTNNB1	C0206624	Hepatoblastoma	1	CTD_human
CTNNB1	C0206669	Hepatocellular Adenoma	1	CTD_human
CTNNB1	C0206686	Adrenocortical carcinoma	1	CTD_human
CTNNB1	C0232347	No-Reflow Phenomenon	1	CTD_human
CTNNB1	C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	1	CTD_human
CTNNB1	C0345967	Malignant mesothelioma	1	CTD_human
CTNNB1	C0376634	Craniofacial Abnormalities	1	CTD_human
CTNNB1	C0919267	ovarian neoplasm	1	CTD_human
CTNNB1	C3554449	MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	1	ORPHANET;UNIPROT
CTNNB1	C4277682	Chemical and Drug Induced Liver Injury	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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