ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ITGB1BP1

Gene summary

Gene information	Gene symbol	ITGB1BP1
	Gene ID	9270
	Gene name	integrin subunit beta 1 binding protein 1
	Synonyms	ICAP-1A\|ICAP-1B\|ICAP-1alpha\|ICAP1\|ICAP1A\|ICAP1B
	Cytomap	2p25.1
	Type of gene	protein-coding
	Description	integrin beta-1-binding protein 1bodeninintegrin cytoplasmic domain-associated protein 1integrin cytoplasmic domain-associated protein 1-alphaintegrin cytoplasmic domain-associated protein 1-beta
	Modification date	20180519
	UniProtAcc	O14713
	Context	PubMed: ITGB1BP1 [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
ITGB1BP1	GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	20616313
ITGB1BP1	GO:0006469	negative regulation of protein kinase activity	20616313
ITGB1BP1	GO:0007160	cell-matrix adhesion	9281591
ITGB1BP1	GO:0007229	integrin-mediated signaling pathway	11919189\|15703214
ITGB1BP1	GO:0008284	positive regulation of cell proliferation	15703214
ITGB1BP1	GO:0008285	negative regulation of cell proliferation	20616313
ITGB1BP1	GO:0010595	positive regulation of endothelial cell migration	20616313
ITGB1BP1	GO:0015031	protein transport	17916086
ITGB1BP1	GO:0032091	negative regulation of protein binding	12473654
ITGB1BP1	GO:0032148	activation of protein kinase B activity	20616313
ITGB1BP1	GO:0035148	tube formation	20616313
ITGB1BP1	GO:0035924	cellular response to vascular endothelial growth factor stimulus	20616313
ITGB1BP1	GO:0043087	regulation of GTPase activity	11807099
ITGB1BP1	GO:0044344	cellular response to fibroblast growth factor stimulus	20616313
ITGB1BP1	GO:0045747	positive regulation of Notch signaling pathway	20616313
ITGB1BP1	GO:0045944	positive regulation of transcription by RNA polymerase II	15703214\|20616313
ITGB1BP1	GO:0050880	regulation of blood vessel size	20616313
ITGB1BP1	GO:0051895	negative regulation of focal adhesion assembly	12473654
ITGB1BP1	GO:0051897	positive regulation of protein kinase B signaling	20616313
ITGB1BP1	GO:0070373	negative regulation of ERK1 and ERK2 cascade	20616313
ITGB1BP1	GO:0090051	negative regulation of cell migration involved in sprouting angiogenesis	20616313
ITGB1BP1	GO:0090315	negative regulation of protein targeting to membrane	11807099
ITGB1BP1	GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	11807099

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Exon skipping events across known transcript of Ensembl for ITGB1BP1 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 ITGB1BP1

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 ITGB1BP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_336805	2	9546942:9547034:9547577:9547727:9548241:9548334	9547577:9547727	ENSG00000119185.8	ENST00000490426.1,ENST00000464228.1,ENST00000360635.3,ENST00000355346.4,ENST00000460720.1
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENSG00000119185.8	ENST00000483795.1
exon_skip_336819	2	9548280:9548334:9552397:9552534:9554306:9554385	9552397:9552534	ENSG00000119185.8	ENST00000488451.1,ENST00000494563.1,ENST00000482798.1,ENST00000360635.3,ENST00000492079.1,ENST00000355346.4,ENST00000456913.2,ENST00000359712.3,ENST00000463190.1,ENST00000238091.4
exon_skip_336820	2	9548280:9548334:9552397:9552534:9558754:9558861	9552397:9552534	ENSG00000119185.8	ENST00000464228.1
exon_skip_336822	2	9548280:9548334:9552397:9552534:9563501:9563559	9552397:9552534	ENSG00000119185.8	ENST00000490426.1,ENST00000497031.1
exon_skip_336830	2	9552488:9552534:9554306:9554385:9558754:9558861	9554306:9554385	ENSG00000119185.8	ENST00000488451.1,ENST00000467606.1,ENST00000497105.1,ENST00000494563.1,ENST00000460001.1,ENST00000360635.3,ENST00000492079.1,ENST00000355346.4,ENST00000483795.1,ENST00000456913.2,ENST00000359712.3,ENST00000238091.4,ENST00000484735.1
exon_skip_336834	2	9552488:9552534:9554306:9554385:9563501:9563559	9554306:9554385	ENSG00000119185.8	ENST00000463190.1
exon_skip_336838	2	9552488:9552534:9558754:9558861:9563501:9563559	9558754:9558861	ENSG00000119185.8	ENST00000464228.1
exon_skip_336842	2	9554306:9554385:9558754:9558861:9560118:9560221	9558754:9558861	ENSG00000119185.8	ENST00000488451.1,ENST00000494563.1,ENST00000360635.3,ENST00000492079.1
exon_skip_336844	2	9554306:9554385:9558754:9558861:9562607:9562695	9558754:9558861	ENSG00000119185.8	ENST00000359712.3,ENST00000484735.1
exon_skip_336845	2	9554306:9554385:9558754:9558861:9562930:9563305	9558754:9558861	ENSG00000119185.8	ENST00000497105.1,ENST00000460001.1
exon_skip_336846	2	9554306:9554385:9558754:9558861:9563094:9563216	9558754:9558861	ENSG00000119185.8	ENST00000467606.1
exon_skip_336848	2	9554306:9554385:9558754:9558861:9563501:9563559	9558754:9558861	ENSG00000119185.8	ENST00000355346.4,ENST00000483795.1,ENST00000456913.2,ENST00000238091.4
exon_skip_336852	2	9554306:9554385:9560118:9560229:9562607:9562695	9560118:9560229	ENSG00000119185.8	ENST00000482798.1
exon_skip_336879	2	9558754:9558861:9560118:9560229:9563094:9563216	9560118:9560229	ENSG00000119185.8	ENST00000494563.1
exon_skip_336883	2	9558754:9558861:9560118:9560229:9563501:9563559	9560118:9560229	ENSG00000119185.8	ENST00000488451.1
exon_skip_336889	2	9558754:9558861:9562607:9562789:9563406:9563469	9562607:9562789	ENSG00000119185.8	ENST00000484735.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ITGB1BP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_336805	2	9546942:9547034:9547577:9547727:9548241:9548334	9547577:9547727	ENSG00000119185.8	ENST00000360635.3,ENST00000355346.4,ENST00000490426.1,ENST00000464228.1,ENST00000460720.1
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENSG00000119185.8	ENST00000483795.1
exon_skip_336819	2	9548280:9548334:9552397:9552534:9554306:9554385	9552397:9552534	ENSG00000119185.8	ENST00000360635.3,ENST00000238091.4,ENST00000355346.4,ENST00000359712.3,ENST00000488451.1,ENST00000456913.2,ENST00000482798.1,ENST00000492079.1,ENST00000463190.1,ENST00000494563.1
exon_skip_336820	2	9548280:9548334:9552397:9552534:9558754:9558861	9552397:9552534	ENSG00000119185.8	ENST00000464228.1
exon_skip_336822	2	9548280:9548334:9552397:9552534:9563501:9563559	9552397:9552534	ENSG00000119185.8	ENST00000490426.1,ENST00000497031.1
exon_skip_336830	2	9552488:9552534:9554306:9554385:9558754:9558861	9554306:9554385	ENSG00000119185.8	ENST00000360635.3,ENST00000238091.4,ENST00000355346.4,ENST00000483795.1,ENST00000359712.3,ENST00000488451.1,ENST00000456913.2,ENST00000492079.1,ENST00000494563.1,ENST00000467606.1,ENST00000484735.1,ENST00000460001.1,ENST00000497105.1
exon_skip_336834	2	9552488:9552534:9554306:9554385:9563501:9563559	9554306:9554385	ENSG00000119185.8	ENST00000463190.1
exon_skip_336838	2	9552488:9552534:9558754:9558861:9563501:9563559	9558754:9558861	ENSG00000119185.8	ENST00000464228.1
exon_skip_336842	2	9554306:9554385:9558754:9558861:9560118:9560221	9558754:9558861	ENSG00000119185.8	ENST00000360635.3,ENST00000488451.1,ENST00000492079.1,ENST00000494563.1
exon_skip_336844	2	9554306:9554385:9558754:9558861:9562607:9562695	9558754:9558861	ENSG00000119185.8	ENST00000359712.3,ENST00000484735.1
exon_skip_336845	2	9554306:9554385:9558754:9558861:9562930:9563305	9558754:9558861	ENSG00000119185.8	ENST00000460001.1,ENST00000497105.1
exon_skip_336846	2	9554306:9554385:9558754:9558861:9563094:9563216	9558754:9558861	ENSG00000119185.8	ENST00000467606.1
exon_skip_336848	2	9554306:9554385:9558754:9558861:9563501:9563559	9558754:9558861	ENSG00000119185.8	ENST00000238091.4,ENST00000355346.4,ENST00000483795.1,ENST00000456913.2
exon_skip_336852	2	9554306:9554385:9560118:9560229:9562607:9562695	9560118:9560229	ENSG00000119185.8	ENST00000482798.1
exon_skip_336879	2	9558754:9558861:9560118:9560229:9563094:9563216	9560118:9560229	ENSG00000119185.8	ENST00000494563.1
exon_skip_336883	2	9558754:9558861:9560118:9560229:9563501:9563559	9560118:9560229	ENSG00000119185.8	ENST00000488451.1
exon_skip_336889	2	9558754:9558861:9562607:9562789:9563406:9563469	9562607:9562789	ENSG00000119185.8	ENST00000484735.1

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 ITGB1BP1

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
ENST00000355346	9558754	9558861	3UTR-3CDS
ENST00000360635	9558754	9558861	3UTR-3CDS
ENST00000355346	9552397	9552534	Frame-shift
ENST00000360635	9552397	9552534	Frame-shift
ENST00000355346	9554306	9554385	Frame-shift
ENST00000360635	9554306	9554385	Frame-shift
ENST00000355346	9547577	9547727	In-frame
ENST00000360635	9547577	9547727	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
ENST00000355346	9558754	9558861	3UTR-3CDS
ENST00000360635	9558754	9558861	3UTR-3CDS
ENST00000355346	9552397	9552534	Frame-shift
ENST00000360635	9552397	9552534	Frame-shift
ENST00000355346	9554306	9554385	Frame-shift
ENST00000360635	9554306	9554385	Frame-shift
ENST00000355346	9547577	9547727	In-frame
ENST00000360635	9547577	9547727	In-frame

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Infer the effects of exon skipping event on protein functional features for ITGB1BP1

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
ENST00000355346	1980	200	9547577	9547727	592	741	127	177
ENST00000360635	4876	200	9547577	9547727	1279	1428	127	177

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
ENST00000355346	1980	200	9547577	9547727	592	741	127	177
ENST00000360635	4876	200	9547577	9547727	1279	1428	127	177

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
O14713	127	177	128	177	Alternative sequence	ID=VSP_003898;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9281591;Dbxref=PMID:9281591
O14713	127	177	128	177	Alternative sequence	ID=VSP_003898;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9281591;Dbxref=PMID:9281591
O14713	127	177	129	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	129	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	138	145	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	138	145	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	148	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	148	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	153	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	153	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	167	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	167	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	1	200	Chain	ID=PRO_0000084264;Note=Integrin beta-1-binding protein 1
O14713	127	177	1	200	Chain	ID=PRO_0000084264;Note=Integrin beta-1-binding protein 1
O14713	127	177	58	200	Domain	Note=PID
O14713	127	177	58	200	Domain	Note=PID
O14713	127	177	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	177	192	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	177	192	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	135	139	Mutagenesis	Note=Reduces KRIT1 and ITGB1 binding. LYLII->AYAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.19
O14713	127	177	135	139	Mutagenesis	Note=Reduces KRIT1 and ITGB1 binding. LYLII->AYAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.19
O14713	127	177	135	135	Mutagenesis	Note=Abolishes ITGB1 binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	135	135	Mutagenesis	Note=Abolishes ITGB1 binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	138	138	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11741908,ECO:0000269\|PubMed:15703214;Dbxref=PMID:11741908,PMID:15703214
O14713	127	177	138	138	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11741908,ECO:0000269\|PubMed:15703214;Dbxref=PMID:11741908,PMID:15703214
O14713	127	177	139	139	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	139	139	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	144	144	Mutagenesis	Note=Abolishes ITGB1 binding. Y->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	144	144	Mutagenesis	Note=Abolishes ITGB1 binding. Y->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	136	139	Region	Note=Interaction with KRIT1
O14713	127	177	136	139	Region	Note=Interaction with KRIT1
O14713	127	177	139	141	Region	Note=Interaction with ITGB1
O14713	127	177	139	141	Region	Note=Interaction with ITGB1
O14713	127	177	150	150	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14713	127	177	150	150	Sequence conflict	Note=A->V;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
O14713	127	177	128	177	Alternative sequence	ID=VSP_003898;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9281591;Dbxref=PMID:9281591
O14713	127	177	128	177	Alternative sequence	ID=VSP_003898;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9281591;Dbxref=PMID:9281591
O14713	127	177	129	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	129	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	138	145	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	138	145	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	148	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	148	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	153	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	153	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	167	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	167	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	1	200	Chain	ID=PRO_0000084264;Note=Integrin beta-1-binding protein 1
O14713	127	177	1	200	Chain	ID=PRO_0000084264;Note=Integrin beta-1-binding protein 1
O14713	127	177	58	200	Domain	Note=PID
O14713	127	177	58	200	Domain	Note=PID
O14713	127	177	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	177	192	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	177	192	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4JIF
O14713	127	177	135	139	Mutagenesis	Note=Reduces KRIT1 and ITGB1 binding. LYLII->AYAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.19
O14713	127	177	135	139	Mutagenesis	Note=Reduces KRIT1 and ITGB1 binding. LYLII->AYAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.19
O14713	127	177	135	135	Mutagenesis	Note=Abolishes ITGB1 binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	135	135	Mutagenesis	Note=Abolishes ITGB1 binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	138	138	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11741908,ECO:0000269\|PubMed:15703214;Dbxref=PMID:11741908,PMID:15703214
O14713	127	177	138	138	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11741908,ECO:0000269\|PubMed:15703214;Dbxref=PMID:11741908,PMID:15703214
O14713	127	177	139	139	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	139	139	Mutagenesis	Note=Abolishes ITGB1 binding. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	144	144	Mutagenesis	Note=Abolishes ITGB1 binding. Y->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	144	144	Mutagenesis	Note=Abolishes ITGB1 binding. Y->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11741908;Dbxref=PMID:11741908
O14713	127	177	136	139	Region	Note=Interaction with KRIT1
O14713	127	177	136	139	Region	Note=Interaction with KRIT1
O14713	127	177	139	141	Region	Note=Interaction with ITGB1
O14713	127	177	139	141	Region	Note=Interaction with ITGB1
O14713	127	177	150	150	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14713	127	177	150	150	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for ITGB1BP1

- 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.

- 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_336805	9547578	9547727	9547657	9547657	Frame_Shift_Del	C	-	p.G151fs
GBM	TCGA-06-0129-01	exon_skip_336805	9547578	9547727	9547680	9547681	Frame_Shift_Del	AC	-	p.C143fs
ESCA	TCGA-L5-A4OH-01	exon_skip_336814	9552197	9552534	9552384	9552384	Frame_Shift_Del	T	-	p.N101fs
ESCA	TCGA-LN-A4A6-01	exon_skip_336814	9552197	9552534	9552384	9552384	Frame_Shift_Del	T	-	p.N101fs
LIHC	TCGA-DD-A1EG-01	exon_skip_336830 exon_skip_336834	9554307	9554385	9554363	9554363	Frame_Shift_Del	C	-	p.G32fs
UCEC	TCGA-BS-A0UV-01	exon_skip_336814	9552197	9552534	9552496	9552496	Nonsense_Mutation	G	A	p.R64*
UCEC	TCGA-BS-A0UV-01	exon_skip_336822 exon_skip_336820 exon_skip_336819	9552398	9552534	9552496	9552496	Nonsense_Mutation	G	A	p.R64*
LUSC	TCGA-66-2778-01	exon_skip_336844 exon_skip_336846 exon_skip_336845 exon_skip_336848 exon_skip_336838 exon_skip_336842	9558755	9558861	9558757	9558757	Nonsense_Mutation	T	A	p.K24*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-66-2778-01
	Cancer type: LUSC
	ESID: exon_skip_336842
	Skipped exon start: 9558755
	Skipped exon end: 9558861
	Mutation start: 9558757
	Mutation end: 9558757
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K24*
exon_skip_336838_LUSC_TCGA-66-2778-01.png
exon_skip_336848_LUSC_TCGA-66-2778-01.png
	Sample: TCGA-66-2778-01
	Cancer type: LUSC
	ESID: exon_skip_336842
	Skipped exon start: 9558755
	Skipped exon end: 9558861
	Mutation start: 9558757
	Mutation end: 9558757
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K24*
exon_skip_336838_LUSC_TCGA-66-2778-01.png
exon_skip_336848_LUSC_TCGA-66-2778-01.png
	Sample: TCGA-BS-A0UV-01
	Cancer type: UCEC
	ESID: exon_skip_336819
	Skipped exon start: 9552398
	Skipped exon end: 9552534
	Mutation start: 9552496
	Mutation end: 9552496
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R64*
	Sample: TCGA-BS-A0UV-01
	Cancer type: UCEC
	ESID: exon_skip_336814
	Skipped exon start: 9552197
	Skipped exon end: 9552534
	Mutation start: 9552496
	Mutation end: 9552496
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R64*
exon_skip_121518_UCEC_TCGA-BS-A0UV-01.png
exon_skip_331787_UCEC_TCGA-BS-A0UV-01.png
exon_skip_336814_UCEC_TCGA-BS-A0UV-01.png
exon_skip_376191_UCEC_TCGA-BS-A0UV-01.png
exon_skip_428559_UCEC_TCGA-BS-A0UV-01.png
exon_skip_434353_UCEC_TCGA-BS-A0UV-01.png
exon_skip_442836_UCEC_TCGA-BS-A0UV-01.png
exon_skip_474328_UCEC_TCGA-BS-A0UV-01.png
exon_skip_517296_UCEC_TCGA-BS-A0UV-01.png
exon_skip_59253_UCEC_TCGA-BS-A0UV-01.png
exon_skip_99140_UCEC_TCGA-BS-A0UV-01.png
	Sample: TCGA-L5-A4OH-01
	Cancer type: ESCA
	ESID: exon_skip_336814
	Skipped exon start: 9552197
	Skipped exon end: 9552534
	Mutation start: 9552384
	Mutation end: 9552384
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.N101fs
exon_skip_336814_ESCA_TCGA-L5-A4OH-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
SNU1040_LARGE_INTESTINE	9547578	9547727	9547601	9547601	Missense_Mutation	A	G	p.W170R
SW756_CERVIX	9547578	9547727	9547670	9547670	Missense_Mutation	C	T	p.G147S
SNU1040_LARGE_INTESTINE	9547578	9547727	9547691	9547691	Missense_Mutation	G	A	p.R140W
KYM1_SOFT_TISSUE	9547578	9547727	9547697	9547697	Missense_Mutation	T	G	p.I138L
JHUEM7_ENDOMETRIUM	9552398	9552534	9552412	9552412	Missense_Mutation	T	C	p.I92V
JHUEM7_ENDOMETRIUM	9552197	9552534	9552412	9552412	Missense_Mutation	T	C	p.I92V
KE39_STOMACH	9552398	9552534	9552453	9552453	Missense_Mutation	T	G	p.E78A
KE39_STOMACH	9552197	9552534	9552453	9552453	Missense_Mutation	T	G	p.E78A
LI7_LIVER	9552398	9552534	9552453	9552453	Missense_Mutation	T	G	p.E78A
LI7_LIVER	9552197	9552534	9552453	9552453	Missense_Mutation	T	G	p.E78A
YH13_CENTRAL_NERVOUS_SYSTEM	9552398	9552534	9552453	9552453	Missense_Mutation	T	G	p.E78A
YH13_CENTRAL_NERVOUS_SYSTEM	9552197	9552534	9552453	9552453	Missense_Mutation	T	G	p.E78A
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9552398	9552534	9552491	9552491	Missense_Mutation	T	C	p.I65M
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9552197	9552534	9552491	9552491	Missense_Mutation	T	C	p.I65M
TMK1_STOMACH	9554307	9554385	9554375	9554375	Missense_Mutation	G	A	p.S28F

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITGB1BP1

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
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	ACC	rs10929581	chr2:9552379	C/T	7.24e-06
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	GBM	rs10929581	chr2:9552379	C/T	1.97e-28
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	CESC	rs10929581	chr2:9552379	C/T	4.65e-21
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	COAD	rs10929581	chr2:9552379	C/T	5.16e-23
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	BLCA	rs10929581	chr2:9552379	C/T	7.57e-37
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	BLCA	rs10929581	chr2:9552379	C/T	9.56e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	ESCA	rs10929581	chr2:9552379	C/T	2.84e-15
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	HNSC	rs10929581	chr2:9552379	C/T	7.53e-44
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	HNSC	rs10929581	chr2:9552379	C/T	1.27e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	HNSC	rs10929581	chr2:9552379	C/T	2.38e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	KICH	rs10929581	chr2:9552379	C/T	7.13e-06
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	KIRP	rs10929581	chr2:9552379	C/T	6.34e-27
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LGG	rs10929581	chr2:9552379	C/T	2.67e-56
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LGG	rs10929581	chr2:9552379	C/T	8.62e-07
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LGG	rs10929581	chr2:9552379	C/T	3.53e-03
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	KIRC	rs10929581	chr2:9552379	C/T	9.11e-50
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	KIRC	rs10929581	chr2:9552379	C/T	4.05e-04
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LUAD	rs10929581	chr2:9552379	C/T	2.99e-46
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LUAD	rs10929581	chr2:9552379	C/T	2.39e-06
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LUAD	rs10929581	chr2:9552379	C/T	6.98e-06
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	MESO	rs10929581	chr2:9552379	C/T	1.08e-11
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LUSC	rs10929581	chr2:9552379	C/T	1.92e-51
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LUSC	rs10929581	chr2:9552379	C/T	4.02e-06
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	LUSC	rs10929581	chr2:9552379	C/T	1.80e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	OV	rs10929581	chr2:9552379	C/T	5.17e-35
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	OV	rs10929581	chr2:9552379	C/T	3.97e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	OV	rs10929581	chr2:9552379	C/T	6.62e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	READ	rs10929581	chr2:9552379	C/T	9.05e-11
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	PCPG	rs10929581	chr2:9552379	C/T	3.20e-23
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	PAAD	rs10929581	chr2:9552379	C/T	2.11e-18
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	PRAD	rs10929581	chr2:9552379	C/T	1.57e-38
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	PRAD	rs10929581	chr2:9552379	C/T	1.19e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	THYM	rs10929581	chr2:9552379	C/T	1.19e-15
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	THYM	rs10929581	chr2:9552379	C/T	4.21e-04
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	TGCT	rs10929581	chr2:9552379	C/T	2.39e-13
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	SKCM	rs10929581	chr2:9552379	C/T	1.98e-10
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	STAD	rs10929581	chr2:9552379	C/T	2.21e-26
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	THCA	rs10929581	chr2:9552379	C/T	3.16e-56
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	THCA	rs10929581	chr2:9552379	C/T	8.57e-05
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	UVM	rs10929581	chr2:9552379	C/T	1.85e-08
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	UCEC	rs10929581	chr2:9552379	C/T	9.23e-16
exon_skip_336814	2	9548280:9548334:9552196:9552534:9554306:9554385	9552196:9552534	ENST00000483795.1	UCEC	rs10929581	chr2:9552379	C/T	5.44e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGB1BP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITGB1BP1

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RelatedDrugs for ITGB1BP1

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 ITGB1BP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ITGB1BP1	C0005941	Bone Diseases, Developmental	1	CTD_human
ITGB1BP1	C0376634	Craniofacial Abnormalities	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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