ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TBC1D4

Gene summary

Gene information	Gene symbol	TBC1D4
	Gene ID	9882
	Gene name	TBC1 domain family member 4
	Synonyms	AS160\|NIDDM5
	Cytomap	13q22.2
	Type of gene	protein-coding
	Description	TBC1 domain family member 4TBC (Tre-2, BUB2, CDC16) domain-containing proteinakt substrate of 160 kDa
	Modification date	20180523
	UniProtAcc	O60343
	Context	PubMed: TBC1D4 [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 TBC1D4 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 TBC1D4

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 TBC1D4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_104031	13	75866237:75866407:75868989:75869149:75873465:75873710	75868989:75869149	ENSG00000136111.8	ENST00000431480.2,ENST00000377636.3,ENST00000377625.2,ENST00000425511.1
exon_skip_104032	13	75876378:75876537:75880448:75880607:75884077:75884287	75880448:75880607	ENSG00000136111.8	ENST00000431480.2,ENST00000377636.3,ENST00000377625.2
exon_skip_104034	13	75884170:75884287:75886873:75887034:75900332:75900386	75886873:75887034	ENSG00000136111.8	ENST00000413735.1,ENST00000377625.2
exon_skip_104035	13	75886917:75887034:75894149:75894173:75898372:75898537	75894149:75894173	ENSG00000136111.8	ENST00000377636.3,ENST00000425511.1
exon_skip_104037	13	75886917:75887034:75898372:75898537:75900332:75900386	75898372:75898537	ENSG00000136111.8	ENST00000431480.2,ENST00000488955.1
exon_skip_104038	13	75894149:75894173:75898372:75898537:75900332:75900386	75898372:75898537	ENSG00000136111.8	ENST00000377636.3,ENST00000425511.1
exon_skip_104039	13	75900332:75900559:75901887:75901962:75911056:75911176	75901887:75901962	ENSG00000136111.8	ENST00000413735.1,ENST00000431480.2,ENST00000377636.3,ENST00000377625.2,ENST00000425511.1
exon_skip_104040	13	75911056:75911176:75915260:75915371:75915631:75915667	75915260:75915371	ENSG00000136111.8	ENST00000413735.1,ENST00000431480.2,ENST00000377636.3,ENST00000377625.2,ENST00000425511.1
exon_skip_104041	13	75923305:75923438:75930282:75930387:75933904:75933994	75930282:75930387	ENSG00000136111.8	ENST00000431480.2,ENST00000377636.3,ENST00000377625.2,ENST00000425511.1
exon_skip_104045	13	75930282:75930387:75933904:75933994:75936161:75936743	75933904:75933994	ENSG00000136111.8	ENST00000431480.2,ENST00000377636.3,ENST00000377625.2,ENST00000425511.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TBC1D4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_104031	13	75866237:75866407:75868989:75869149:75873465:75873710	75868989:75869149	ENSG00000136111.8	ENST00000377636.3,ENST00000431480.2,ENST00000377625.2,ENST00000425511.1
exon_skip_104032	13	75876378:75876537:75880448:75880607:75884077:75884287	75880448:75880607	ENSG00000136111.8	ENST00000377636.3,ENST00000431480.2,ENST00000377625.2
exon_skip_104034	13	75884170:75884287:75886873:75887034:75900332:75900386	75886873:75887034	ENSG00000136111.8	ENST00000377625.2,ENST00000413735.1
exon_skip_104035	13	75886917:75887034:75894149:75894173:75898372:75898537	75894149:75894173	ENSG00000136111.8	ENST00000377636.3,ENST00000425511.1
exon_skip_104037	13	75886917:75887034:75898372:75898537:75900332:75900386	75898372:75898537	ENSG00000136111.8	ENST00000431480.2,ENST00000488955.1
exon_skip_104038	13	75894149:75894173:75898372:75898537:75900332:75900386	75898372:75898537	ENSG00000136111.8	ENST00000377636.3,ENST00000425511.1
exon_skip_104039	13	75900332:75900559:75901887:75901962:75911056:75911176	75901887:75901962	ENSG00000136111.8	ENST00000377636.3,ENST00000431480.2,ENST00000377625.2,ENST00000425511.1,ENST00000413735.1
exon_skip_104040	13	75911056:75911176:75915260:75915371:75915631:75915667	75915260:75915371	ENSG00000136111.8	ENST00000377636.3,ENST00000431480.2,ENST00000377625.2,ENST00000425511.1,ENST00000413735.1
exon_skip_104041	13	75923305:75923438:75930282:75930387:75933904:75933994	75930282:75930387	ENSG00000136111.8	ENST00000377636.3,ENST00000431480.2,ENST00000377625.2,ENST00000425511.1
exon_skip_104045	13	75930282:75930387:75933904:75933994:75936161:75936743	75933904:75933994	ENSG00000136111.8	ENST00000377636.3,ENST00000431480.2,ENST00000377625.2,ENST00000425511.1

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 TBC1D4

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
ENST00000377636	75868989	75869149	Frame-shift
ENST00000377636	75880448	75880607	In-frame
ENST00000377636	75894149	75894173	In-frame
ENST00000377636	75898372	75898537	In-frame
ENST00000377636	75901887	75901962	In-frame
ENST00000377636	75915260	75915371	In-frame
ENST00000377636	75930282	75930387	In-frame
ENST00000377636	75933904	75933994	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
ENST00000377636	75868989	75869149	Frame-shift
ENST00000377636	75880448	75880607	In-frame
ENST00000377636	75894149	75894173	In-frame
ENST00000377636	75898372	75898537	In-frame
ENST00000377636	75901887	75901962	In-frame
ENST00000377636	75915260	75915371	In-frame
ENST00000377636	75930282	75930387	In-frame
ENST00000377636	75933904	75933994	In-frame

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Infer the effects of exon skipping event on protein functional features for TBC1D4

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
ENST00000377636	6381	1298	75933904	75933994	1428	1517	360	390
ENST00000377636	6381	1298	75930282	75930387	1518	1622	390	425
ENST00000377636	6381	1298	75915260	75915371	1848	1958	500	537
ENST00000377636	6381	1298	75901887	75901962	2079	2153	577	602
ENST00000377636	6381	1298	75898372	75898537	2381	2545	678	732
ENST00000377636	6381	1298	75880448	75880607	2941	3099	864	917

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
ENST00000377636	6381	1298	75933904	75933994	1428	1517	360	390
ENST00000377636	6381	1298	75930282	75930387	1518	1622	390	425
ENST00000377636	6381	1298	75915260	75915371	1848	1958	500	537
ENST00000377636	6381	1298	75901887	75901962	2079	2153	577	602
ENST00000377636	6381	1298	75898372	75898537	2381	2545	678	732
ENST00000377636	6381	1298	75880448	75880607	2941	3099	864	917

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
O60343	360	390	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	360	390	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	360	390	312	468	Domain	Note=PID 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
O60343	390	425	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	390	425	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	390	425	312	468	Domain	Note=PID 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
O60343	500	537	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	500	537	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	577	602	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	577	602	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	577	602	577	577	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BYJ6
O60343	577	602	588	588	Modified residue	Note=Phosphoserine%3B by PKB/AKT1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,EC
O60343	577	602	591	591	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:16964243,PMID:21406692,PMID:23186163,PMID
O60343	577	602	588	588	Mutagenesis	Note=80%25 reduction of insulin-stimulated GLUT4 translocation%3B when associated with A-318%3B A-642 and A-751. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12637568;Dbxref=PMID:12637568
O60343	678	732	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	678	732	678	740	Alternative sequence	ID=VSP_036869;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:18771725;Dbxref=PMID:18771725
O60343	678	732	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	678	732	672	759	Compositional bias	Note=Ser-rich
O60343	864	917	865	917	Alternative sequence	ID=VSP_036871;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	864	917	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	864	917	887	896	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QYB
O60343	864	917	908	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QYB
O60343	864	917	864	864	Sequence conflict	Note=E->EG;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	864	864	Sequence conflict	Note=E->EG;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	864	864	Sequence conflict	Note=E->EG;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	867	867	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	874	877	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QYB

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
O60343	360	390	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	360	390	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	360	390	312	468	Domain	Note=PID 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
O60343	390	425	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	390	425	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	390	425	312	468	Domain	Note=PID 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
O60343	500	537	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	500	537	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	577	602	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	577	602	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	577	602	577	577	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8BYJ6
O60343	577	602	588	588	Modified residue	Note=Phosphoserine%3B by PKB/AKT1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,EC
O60343	577	602	591	591	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:16964243,PMID:21406692,PMID:23186163,PMID
O60343	577	602	588	588	Mutagenesis	Note=80%25 reduction of insulin-stimulated GLUT4 translocation%3B when associated with A-318%3B A-642 and A-751. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12637568;Dbxref=PMID:12637568
O60343	678	732	1	783	Alternative sequence	ID=VSP_036868;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	678	732	678	740	Alternative sequence	ID=VSP_036869;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:18771725;Dbxref=PMID:18771725
O60343	678	732	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	678	732	672	759	Compositional bias	Note=Ser-rich
O60343	864	917	865	917	Alternative sequence	ID=VSP_036871;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O60343	864	917	1	1298	Chain	ID=PRO_0000208026;Note=TBC1 domain family member 4
O60343	864	917	887	896	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QYB
O60343	864	917	908	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QYB
O60343	864	917	864	864	Sequence conflict	Note=E->EG;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	864	864	Sequence conflict	Note=E->EG;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	864	864	Sequence conflict	Note=E->EG;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	867	867	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O60343	864	917	874	877	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3QYB

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SNVs in the skipped exons for TBC1D4

- 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
STAD	TCGA-BR-8368-01	exon_skip_104031	75868990	75869149	75869048	75869048	Frame_Shift_Del	G	-	p.W1087fs
BLCA	TCGA-R3-A69X-01	exon_skip_104032	75880449	75880607	75880511	75880511	Frame_Shift_Del	A	-	p.L898fs
LIHC	TCGA-DD-A39Y-01	exon_skip_104032	75880449	75880607	75880524	75880524	Frame_Shift_Del	A	-	p.W893fs
LIHC	TCGA-DD-A1EG-01	exon_skip_104034	75886874	75887034	75887015	75887015	Frame_Shift_Del	T	-	p.R748fs
LIHC	TCGA-DD-A1EG-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898377	75898377	Frame_Shift_Del	T	-	p.I732fs
STAD	TCGA-BR-8487-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898394	75898394	Frame_Shift_Del	G	-	p.P726fs
LIHC	TCGA-DD-A3A0-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898438	75898438	Frame_Shift_Del	G	-	p.P711fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_104045	75933905	75933994	75933936	75933936	Frame_Shift_Del	T	-	p.K380fs
BRCA	TCGA-E2-A14T-01	exon_skip_104045	75933905	75933994	75933979	75933980	Frame_Shift_Del	TC	-	p.E365fs
HNSC	TCGA-CR-7388-01	exon_skip_104041	75930283	75930387	75930347	75930348	Frame_Shift_Ins	-	C	p.E404fs
HNSC	TCGA-CR-7388-01	exon_skip_104041	75930283	75930387	75930347	75930348	Frame_Shift_Ins	-	C	p.V404fs
UCEC	TCGA-B5-A0JY-01	exon_skip_104032	75880449	75880607	75880452	75880452	Nonsense_Mutation	C	A	p.E917*
READ	TCGA-F5-6814-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898521	75898521	Nonsense_Mutation	G	A	p.R684X
UCEC	TCGA-AX-A0J0-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898521	75898521	Nonsense_Mutation	G	A	p.R684*
UCEC	TCGA-B5-A11E-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898521	75898521	Nonsense_Mutation	G	A	p.R684*
UCEC	TCGA-BS-A0UF-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898521	75898521	Nonsense_Mutation	G	A	p.R684*
BLCA	TCGA-DK-A3IS-01	exon_skip_104045	75933905	75933994	75933988	75933988	Nonsense_Mutation	G	A	p.R363*
COAD	TCGA-D5-6927-01	exon_skip_104038 exon_skip_104037	75898373	75898537	75898539	75898539	Splice_Site	T	G	.
GBM	TCGA-06-0877-01	exon_skip_104045	75933905	75933994	75933904	75933904	Splice_Site	C	T	p.Q390_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D5-6927-01
	Cancer type: COAD
	ESID: exon_skip_104037
	Skipped exon start: 75898373
	Skipped exon end: 75898537
	Mutation start: 75898539
	Mutation end: 75898539
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: G
	AAchange: .
exon_skip_104037_COAD_TCGA-D5-6927-01.png
exon_skip_421552_COAD_TCGA-D5-6927-01.png
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_104037
	Skipped exon start: 75898373
	Skipped exon end: 75898537
	Mutation start: 75898521
	Mutation end: 75898521
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R684X
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.png
	Sample: TCGA-B5-A11E-01
	Cancer type: UCEC
	ESID: exon_skip_104037
	Skipped exon start: 75898373
	Skipped exon end: 75898537
	Mutation start: 75898521
	Mutation end: 75898521
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R684*
exon_skip_104037_UCEC_TCGA-B5-A11E-01.png
exon_skip_106242_UCEC_TCGA-B5-A11E-01.png
exon_skip_108777_UCEC_TCGA-B5-A11E-01.png
exon_skip_108778_UCEC_TCGA-B5-A11E-01.png
exon_skip_121584_UCEC_TCGA-B5-A11E-01.png
exon_skip_121649_UCEC_TCGA-B5-A11E-01.png
exon_skip_131821_UCEC_TCGA-B5-A11E-01.png
exon_skip_133126_UCEC_TCGA-B5-A11E-01.png
exon_skip_23327_UCEC_TCGA-B5-A11E-01.png
exon_skip_27874_UCEC_TCGA-B5-A11E-01.png
exon_skip_312611_UCEC_TCGA-B5-A11E-01.png
exon_skip_312613_UCEC_TCGA-B5-A11E-01.png
exon_skip_312641_UCEC_TCGA-B5-A11E-01.png
exon_skip_313540_UCEC_TCGA-B5-A11E-01.png
exon_skip_326446_UCEC_TCGA-B5-A11E-01.png
exon_skip_326448_UCEC_TCGA-B5-A11E-01.png
exon_skip_330038_UCEC_TCGA-B5-A11E-01.png
exon_skip_340150_UCEC_TCGA-B5-A11E-01.png
exon_skip_348004_UCEC_TCGA-B5-A11E-01.png
exon_skip_348005_UCEC_TCGA-B5-A11E-01.png
exon_skip_377858_UCEC_TCGA-B5-A11E-01.png
exon_skip_380242_UCEC_TCGA-B5-A11E-01.png
exon_skip_433438_UCEC_TCGA-B5-A11E-01.png
exon_skip_489645_UCEC_TCGA-B5-A11E-01.png
exon_skip_500396_UCEC_TCGA-B5-A11E-01.png
exon_skip_62223_UCEC_TCGA-B5-A11E-01.png
exon_skip_97620_UCEC_TCGA-B5-A11E-01.png
exon_skip_97655_UCEC_TCGA-B5-A11E-01.png
	Sample: TCGA-BS-A0UF-01
	Cancer type: UCEC
	ESID: exon_skip_104037
	Skipped exon start: 75898373
	Skipped exon end: 75898537
	Mutation start: 75898521
	Mutation end: 75898521
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R684*
exon_skip_104037_UCEC_TCGA-BS-A0UF-01.png
exon_skip_105868_UCEC_TCGA-BS-A0UF-01.png
exon_skip_105985_UCEC_TCGA-BS-A0UF-01.png
exon_skip_115426_UCEC_TCGA-BS-A0UF-01.png
exon_skip_14705_UCEC_TCGA-BS-A0UF-01.png
exon_skip_147467_UCEC_TCGA-BS-A0UF-01.png
exon_skip_19372_UCEC_TCGA-BS-A0UF-01.png
exon_skip_286379_UCEC_TCGA-BS-A0UF-01.png
exon_skip_294437_UCEC_TCGA-BS-A0UF-01.png
exon_skip_321837_UCEC_TCGA-BS-A0UF-01.png
exon_skip_324767_UCEC_TCGA-BS-A0UF-01.png
exon_skip_345944_UCEC_TCGA-BS-A0UF-01.png
exon_skip_345950_UCEC_TCGA-BS-A0UF-01.png
exon_skip_382354_UCEC_TCGA-BS-A0UF-01.png
exon_skip_389258_UCEC_TCGA-BS-A0UF-01.png
exon_skip_389265_UCEC_TCGA-BS-A0UF-01.png
exon_skip_39691_UCEC_TCGA-BS-A0UF-01.png
exon_skip_40297_UCEC_TCGA-BS-A0UF-01.png
exon_skip_461887_UCEC_TCGA-BS-A0UF-01.png
exon_skip_482464_UCEC_TCGA-BS-A0UF-01.png
exon_skip_59390_UCEC_TCGA-BS-A0UF-01.png
exon_skip_82288_UCEC_TCGA-BS-A0UF-01.png
exon_skip_84605_UCEC_TCGA-BS-A0UF-01.png
exon_skip_95240_UCEC_TCGA-BS-A0UF-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
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75868990	75869149	75869058	75869059	Missense_Mutation	TA	AT	p.Y1083I
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75868990	75869149	75869068	75869068	Missense_Mutation	G	C	p.P1080A
SBC1_LUNG	75868990	75869149	75869085	75869085	Missense_Mutation	T	G	p.E1074A
SW684_SOFT_TISSUE	75868990	75869149	75869110	75869110	Missense_Mutation	G	A	p.H1066Y
OE21_OESOPHAGUS	75880449	75880607	75880516	75880516	Missense_Mutation	C	A	p.K895N
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75886874	75887034	75886945	75886945	Missense_Mutation	G	A	p.S771F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75886874	75887034	75886951	75886951	Missense_Mutation	C	T	p.R769Q
MERO84_LUNG	75886874	75887034	75887008	75887008	Missense_Mutation	G	A	p.S750L
HEC251_ENDOMETRIUM	75898373	75898537	75898428	75898428	Missense_Mutation	T	G	p.K715Q
NCIH2342_LUNG	75898373	75898537	75898502	75898502	Missense_Mutation	C	A	p.S690I
MFE319_ENDOMETRIUM	75898373	75898537	75898513	75898513	Missense_Mutation	C	G	p.M686I
SNU1040_LARGE_INTESTINE	75898373	75898537	75898517	75898517	Missense_Mutation	C	T	p.R685H
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75915261	75915371	75915275	75915275	Missense_Mutation	C	T	p.G533R
SNUC5_LARGE_INTESTINE	75930283	75930387	75930289	75930289	Missense_Mutation	T	A	p.E423D
SNU1040_LARGE_INTESTINE	75930283	75930387	75930297	75930297	Missense_Mutation	C	T	p.A421T
IHH4_THYROID	75930283	75930387	75930322	75930322	Missense_Mutation	C	G	p.Q412H
NCIH1155_LUNG	75930283	75930387	75930336	75930336	Missense_Mutation	G	A	p.P408S
CAL39_VULVA	75933905	75933994	75933924	75933924	Missense_Mutation	T	A	p.D384V
HEC251_ENDOMETRIUM	75933905	75933994	75933987	75933987	Missense_Mutation	C	T	p.R363Q
JHUEM7_ENDOMETRIUM	75880449	75880607	75880452	75880452	Nonsense_Mutation	C	A	p.E917*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D4

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 TBC1D4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D4

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RelatedDrugs for TBC1D4

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 TBC1D4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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

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Gene summary for TBC1D4

Exon skipping events across known transcript of Ensembl for TBC1D4 from UCSC genome browser

Gene isoform structures and expression levels for TBC1D4

Exon skipping events with PSIs in TCGA for TBC1D4

Exon skipping events with PSIs in GTEx for TBC1D4

Open reading frame (ORF) annotation in the exon skipping event for TBC1D4

Infer the effects of exon skipping event on protein functional features for TBC1D4

SNVs in the skipped exons for TBC1D4

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D4

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D4

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D4

RelatedDrugs for TBC1D4

RelatedDiseases for TBC1D4