ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TMC5

Gene summary

Gene information	Gene symbol	TMC5
	Gene ID	79838
	Gene name	transmembrane channel like 5
	Synonyms	-
	Cytomap	16p12.3
	Type of gene	protein-coding
	Description	transmembrane channel-like protein 5
	Modification date	20180523
	UniProtAcc	Q6UXY8
	Context	PubMed: TMC5 [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 TMC5 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 TMC5

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 TMC5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_133983	16	19451281:19452148:19455402:19455572:19460863:19460953	19455402:19455572	ENSG00000103534.12	ENST00000542583.2,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4
exon_skip_133988	16	19460863:19460953:19471556:19471656:19474601:19474689	19471556:19471656	ENSG00000103534.12	ENST00000542583.2,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4
exon_skip_133993	16	19471561:19471656:19473824:19473887:19474601:19474689	19473824:19473887	ENSG00000103534.12	ENST00000564959.1
exon_skip_133997	16	19475097:19475346:19477403:19477555:19481002:19481147	19477403:19477555	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4
exon_skip_134001	16	19477403:19477555:19481002:19481147:19483409:19483565	19481002:19481147	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000381414.4
exon_skip_134002	16	19477403:19477555:19481002:19481147:19485446:19485598	19481002:19481147	ENSG00000103534.12	ENST00000541464.1
exon_skip_134008	16	19481002:19481147:19483409:19483565:19485446:19485556	19483409:19483565	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000381414.4
exon_skip_134012	16	19481002:19481147:19485446:19485598:19488761:19488840	19485446:19485598	ENSG00000103534.12	ENST00000541464.1
exon_skip_134016	16	19483409:19483565:19485446:19485598:19488761:19488840	19485446:19485598	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000381414.4
exon_skip_134019	16	19485486:19485598:19486079:19486196:19488761:19488840	19486079:19486196	ENSG00000103534.12	ENST00000572147.1
exon_skip_134026	16	19485486:19485598:19488761:19488840:19490752:19490850	19488761:19488840	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4
exon_skip_134036	16	19488761:19488840:19490752:19490850:19492691:19492748	19490752:19490850	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000572147.1,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4
exon_skip_134037	16	19492691:19492787:19498266:19498342:19498514:19498648	19498266:19498342	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4
exon_skip_134053	16	19498266:19498342:19498514:19498648:19501716:19501890	19498514:19498648	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000541464.1
exon_skip_134063	16	19498538:19498648:19501716:19501890:19503471:19503550	19501716:19501890	ENSG00000103534.12	ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000541464.1
exon_skip_134066	16	19503471:19503550:19505583:19505688:19508442:19508485	19505583:19505688	ENSG00000103534.12	ENST00000561503.1,ENST00000574033.1,ENST00000564959.1,ENST00000219821.5,ENST00000542583.2,ENST00000396229.2,ENST00000541464.1,ENST00000381414.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TMC5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_133983	16	19451281:19452148:19455402:19455572:19460863:19460953	19455402:19455572	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2
exon_skip_133988	16	19460863:19460953:19471556:19471656:19474601:19474689	19471556:19471656	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2
exon_skip_133993	16	19471561:19471656:19473824:19473887:19474601:19474689	19473824:19473887	ENSG00000103534.12	ENST00000564959.1
exon_skip_133997	16	19475097:19475346:19477403:19477555:19481002:19481147	19477403:19477555	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134001	16	19477403:19477555:19481002:19481147:19483409:19483565	19481002:19481147	ENSG00000103534.12	ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134002	16	19477403:19477555:19481002:19481147:19485446:19485598	19481002:19481147	ENSG00000103534.12	ENST00000541464.1
exon_skip_134008	16	19481002:19481147:19483409:19483565:19485446:19485556	19483409:19483565	ENSG00000103534.12	ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134012	16	19481002:19481147:19485446:19485598:19488761:19488840	19485446:19485598	ENSG00000103534.12	ENST00000541464.1
exon_skip_134016	16	19483409:19483565:19485446:19485598:19488761:19488840	19485446:19485598	ENSG00000103534.12	ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134019	16	19485486:19485598:19486079:19486196:19488761:19488840	19486079:19486196	ENSG00000103534.12	ENST00000572147.1
exon_skip_134026	16	19485486:19485598:19488761:19488840:19490752:19490850	19488761:19488840	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134036	16	19488761:19488840:19490752:19490850:19492691:19492748	19490752:19490850	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1,ENST00000572147.1
exon_skip_134037	16	19492691:19492787:19498266:19498342:19498514:19498648	19498266:19498342	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134053	16	19498266:19498342:19498514:19498648:19501716:19501890	19498514:19498648	ENSG00000103534.12	ENST00000541464.1,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134063	16	19498538:19498648:19501716:19501890:19503471:19503550	19501716:19501890	ENSG00000103534.12	ENST00000541464.1,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000567478.1,ENST00000564959.1
exon_skip_134066	16	19503471:19503550:19505583:19505688:19508442:19508485	19505583:19505688	ENSG00000103534.12	ENST00000541464.1,ENST00000381414.4,ENST00000396229.2,ENST00000542583.2,ENST00000219821.5,ENST00000561503.1,ENST00000564959.1,ENST00000574033.1

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 TMC5

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
ENST00000396229	19455402	19455572	Frame-shift
ENST00000542583	19455402	19455572	Frame-shift
ENST00000396229	19471556	19471656	Frame-shift
ENST00000542583	19471556	19471656	Frame-shift
ENST00000396229	19477403	19477555	Frame-shift
ENST00000542583	19477403	19477555	Frame-shift
ENST00000396229	19481002	19481147	Frame-shift
ENST00000542583	19481002	19481147	Frame-shift
ENST00000396229	19485446	19485598	Frame-shift
ENST00000542583	19485446	19485598	Frame-shift
ENST00000396229	19488761	19488840	Frame-shift
ENST00000542583	19488761	19488840	Frame-shift
ENST00000396229	19490752	19490850	Frame-shift
ENST00000542583	19490752	19490850	Frame-shift
ENST00000396229	19498266	19498342	Frame-shift
ENST00000542583	19498266	19498342	Frame-shift
ENST00000396229	19498514	19498648	Frame-shift
ENST00000542583	19498514	19498648	Frame-shift
ENST00000396229	19483409	19483565	In-frame
ENST00000542583	19483409	19483565	In-frame
ENST00000396229	19501716	19501890	In-frame
ENST00000542583	19501716	19501890	In-frame
ENST00000396229	19505583	19505688	In-frame
ENST00000542583	19505583	19505688	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
ENST00000396229	19455402	19455572	Frame-shift
ENST00000542583	19455402	19455572	Frame-shift
ENST00000396229	19471556	19471656	Frame-shift
ENST00000542583	19471556	19471656	Frame-shift
ENST00000396229	19477403	19477555	Frame-shift
ENST00000542583	19477403	19477555	Frame-shift
ENST00000396229	19481002	19481147	Frame-shift
ENST00000542583	19481002	19481147	Frame-shift
ENST00000396229	19485446	19485598	Frame-shift
ENST00000542583	19485446	19485598	Frame-shift
ENST00000396229	19488761	19488840	Frame-shift
ENST00000542583	19488761	19488840	Frame-shift
ENST00000396229	19490752	19490850	Frame-shift
ENST00000542583	19490752	19490850	Frame-shift
ENST00000396229	19498266	19498342	Frame-shift
ENST00000542583	19498266	19498342	Frame-shift
ENST00000396229	19498514	19498648	Frame-shift
ENST00000542583	19498514	19498648	Frame-shift
ENST00000396229	19483409	19483565	In-frame
ENST00000542583	19483409	19483565	In-frame
ENST00000396229	19501716	19501890	In-frame
ENST00000542583	19501716	19501890	In-frame
ENST00000396229	19505583	19505688	In-frame
ENST00000542583	19505583	19505688	In-frame

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Infer the effects of exon skipping event on protein functional features for TMC5

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
ENST00000396229	4934	1006	19483409	19483565	2532	2687	594	646
ENST00000542583	4889	1006	19483409	19483565	2487	2642	594	646
ENST00000396229	4934	1006	19501716	19501890	3323	3496	858	915
ENST00000542583	4889	1006	19501716	19501890	3278	3451	858	915
ENST00000396229	4934	1006	19505583	19505688	3576	3680	942	977
ENST00000542583	4889	1006	19505583	19505688	3531	3635	942	977

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
ENST00000396229	4934	1006	19483409	19483565	2532	2687	594	646
ENST00000542583	4889	1006	19483409	19483565	2487	2642	594	646
ENST00000396229	4934	1006	19501716	19501890	3323	3496	858	915
ENST00000542583	4889	1006	19501716	19501890	3278	3451	858	915
ENST00000396229	4934	1006	19505583	19505688	3576	3680	942	977
ENST00000542583	4889	1006	19505583	19505688	3531	3635	942	977

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
Q6UXY8	594	646	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	594	646	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	594	646	547	619	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	547	619	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	641	654	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	641	654	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	620	640	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	620	640	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	859	916	Alternative sequence	ID=VSP_026046;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q6UXY8	858	915	859	916	Alternative sequence	ID=VSP_026046;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q6UXY8	858	915	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	858	915	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	858	915	857	900	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	857	900	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	901	921	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	901	921	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	942	977	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	942	977	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	942	977	922	1006	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	942	977	922	1006	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q6UXY8	594	646	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	594	646	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	594	646	547	619	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	547	619	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	641	654	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	641	654	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	620	640	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	594	646	620	640	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	859	916	Alternative sequence	ID=VSP_026046;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q6UXY8	858	915	859	916	Alternative sequence	ID=VSP_026046;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q6UXY8	858	915	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	858	915	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	858	915	857	900	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	857	900	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	901	921	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	858	915	901	921	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	942	977	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	942	977	1	1006	Chain	ID=PRO_0000289966;Note=Transmembrane channel-like protein 5
Q6UXY8	942	977	922	1006	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6UXY8	942	977	922	1006	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for TMC5

- 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.

TMC5_STAD_exon_skip_134053_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_133983	19455403	19455572	19455457	19455457	Frame_Shift_Del	C	-	p.D281fs
LIHC	TCGA-DD-A3A0-01	exon_skip_133988	19471557	19471656	19471643	19471643	Frame_Shift_Del	A	-	p.K379fs
LIHC	TCGA-DD-A1EG-01	exon_skip_133997	19477404	19477555	19477544	19477544	Frame_Shift_Del	T	-	p.S542fs
LIHC	TCGA-DD-A3A0-01	exon_skip_134008	19483410	19483565	19483537	19483537	Frame_Shift_Del	T	-	p.V637fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_134036	19490753	19490850	19490833	19490833	Frame_Shift_Del	G	-	p.L750fs
LIHC	TCGA-DD-A39Y-01	exon_skip_134037	19498267	19498342	19498285	19498285	Frame_Shift_Del	C	-	p.C794fs
LIHC	TCGA-DD-A1EG-01	exon_skip_134037	19498267	19498342	19498335	19498335	Frame_Shift_Del	C	-	p.S811fs
SKCM	TCGA-EE-A3JI-06	exon_skip_134053	19498515	19498648	19498593	19498594	Frame_Shift_Del	CT	-	p.839_840del
SKCM	TCGA-EE-A3JI-06	exon_skip_134053	19498515	19498648	19498593	19498594	Frame_Shift_Del	CT	-	p.L840fs
STAD	TCGA-HU-A4H3-01	exon_skip_134053	19498515	19498648	19498596	19498596	Frame_Shift_Del	T	-	p.F841fs
STAD	TCGA-HU-A4H3-01	exon_skip_134053	19498515	19498648	19498596	19498596	Frame_Shift_Del	T	-	p.L840fs
STAD	TCGA-B7-5816-01	exon_skip_134063	19501717	19501890	19501744	19501744	Frame_Shift_Del	T	-	p.P867fs
BRCA	TCGA-A2-A04W-01	exon_skip_134063	19501717	19501890	19501758	19501759	Frame_Shift_Del	CT	-	p.F874fs
LIHC	TCGA-BC-A112-01	exon_skip_133983	19455403	19455572	19455456	19455457	Frame_Shift_Ins	-	C	p.A281fs
STAD	TCGA-BR-7703-01	exon_skip_133983	19455403	19455572	19455473	19455474	Frame_Shift_Ins	-	G	p.W287fs
STAD	TCGA-BR-7703-01	exon_skip_133983	19455403	19455572	19455474	19455475	Frame_Shift_Ins	-	G	p.W287fs
SKCM	TCGA-D3-A8GM-06	exon_skip_134008	19483410	19483565	19483431	19483431	Nonsense_Mutation	C	T	p.Q602*
BLCA	TCGA-HQ-A2OF-01	exon_skip_134008	19483410	19483565	19483526	19483526	Nonsense_Mutation	C	A	p.C633*
COAD	TCGA-G4-6320-01	exon_skip_134026	19488762	19488840	19488804	19488804	Nonsense_Mutation	C	A	p.Y465X
COAD	TCGA-G4-6628-01	exon_skip_133983	19455403	19455572	19455573	19455573	Splice_Site	G	A	.
UCEC	TCGA-D1-A174-01	exon_skip_133988	19471557	19471656	19471658	19471658	Splice_Site	T	C	p.R383_splice
ESCA	TCGA-L7-A56G-01	exon_skip_134012 exon_skip_134016	19485447	19485598	19485599	19485599	Splice_Site	G	A	e10+1
HNSC	TCGA-CV-7245-01	exon_skip_134026	19488762	19488840	19488760	19488760	Splice_Site	A	T	p.R697_splice
SKCM	TCGA-ER-A198-06	exon_skip_134026	19488762	19488840	19488761	19488761	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_134053
	Skipped exon start: 19498515
	Skipped exon end: 19498648
	Mutation start: 19498596
	Mutation end: 19498596
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L840fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_134053
	Skipped exon start: 19498515
	Skipped exon end: 19498648
	Mutation start: 19498596
	Mutation end: 19498596
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F841fs
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png
exon_skip_8059_STAD_TCGA-HU-A4H3-01.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
YD10B_UPPER_AERODIGESTIVE_TRACT	19455403	19455572	19455440	19455440	Missense_Mutation	C	T	p.R276C
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19455403	19455572	19455440	19455440	Missense_Mutation	C	T	p.R276C
SARC9371_BONE	19455403	19455572	19455440	19455440	Missense_Mutation	C	T	p.R276C
WM88_SKIN	19455403	19455572	19455485	19455485	Missense_Mutation	G	A	p.D291N
MZ7MEL_SKIN	19455403	19455572	19455503	19455503	Missense_Mutation	G	A	p.E297K
MCC26_SKIN	19455403	19455572	19455517	19455518	Missense_Mutation	GG	AA	p.301_302ME>IK
MCC26_SKIN	19455403	19455572	19455517	19455517	Missense_Mutation	G	A	p.M301I
JHU029_UPPER_AERODIGESTIVE_TRACT	19455403	19455572	19455537	19455537	Missense_Mutation	G	A	p.G308D
NB14_AUTONOMIC_GANGLIA	19455403	19455572	19455561	19455561	Missense_Mutation	G	A	p.G316E
SKMEL28_SKIN	19471557	19471656	19471575	19471575	Missense_Mutation	C	T	p.S356F
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19471557	19471656	19471587	19471587	Missense_Mutation	T	C	p.M360T
SKN_ENDOMETRIUM	19471557	19471656	19471592	19471592	Missense_Mutation	T	C	p.S362P
SCC15_UPPER_AERODIGESTIVE_TRACT	19477404	19477555	19477473	19477473	Missense_Mutation	G	A	p.G519R
MZ7MEL_SKIN	19477404	19477555	19477516	19477516	Missense_Mutation	G	A	p.G533E
SKMEL5_SKIN	19481003	19481147	19481052	19481052	Missense_Mutation	G	A	p.G563R
SNUC2A_LARGE_INTESTINE	19481003	19481147	19481068	19481068	Missense_Mutation	T	C	p.L568P
SNUC2B_LARGE_INTESTINE	19481003	19481147	19481068	19481068	Missense_Mutation	T	C	p.L568P
HEC108_ENDOMETRIUM	19481003	19481147	19481128	19481128	Missense_Mutation	A	G	p.N588S
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19481003	19481147	19481129	19481129	Missense_Mutation	T	A	p.N588K
HCT15_LARGE_INTESTINE	19483410	19483565	19483425	19483425	Missense_Mutation	C	A	p.L600I
HEC108_ENDOMETRIUM	19483410	19483565	19483434	19483434	Missense_Mutation	G	A	p.E603K
SKLU1_LUNG	19483410	19483565	19483497	19483497	Missense_Mutation	G	C	p.V624L
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19483410	19483565	19483536	19483536	Missense_Mutation	G	A	p.V637I
KYSE510_OESOPHAGUS	19483410	19483565	19483536	19483536	Missense_Mutation	G	A	p.V637I
MFE319_ENDOMETRIUM	19485447	19485598	19485505	19485505	Missense_Mutation	G	A	p.C666Y
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19485447	19485598	19485530	19485530	Missense_Mutation	C	G	p.I674M
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19485447	19485598	19485530	19485530	Missense_Mutation	C	G	p.I674M
SISO_CERVIX	19485447	19485598	19485585	19485585	Missense_Mutation	G	A	p.V693I
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19485447	19485598	19485585	19485585	Missense_Mutation	G	A	p.V693I
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19488762	19488840	19488823	19488823	Missense_Mutation	G	A	p.A718T
NCIH2170_LUNG	19498267	19498342	19498269	19498269	Missense_Mutation	T	C	p.I789T
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19498267	19498342	19498283	19498283	Missense_Mutation	T	G	p.C794G
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19498515	19498648	19498614	19498614	Missense_Mutation	G	A	p.G847R
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19501717	19501890	19501740	19501740	Missense_Mutation	G	T	p.G866V
SAT_UPPER_AERODIGESTIVE_TRACT	19501717	19501890	19501747	19501747	Missense_Mutation	T	G	p.F868L
OC316_OVARY	19501717	19501890	19501818	19501818	Missense_Mutation	T	C	p.L892P
OC314_OVARY	19501717	19501890	19501818	19501818	Missense_Mutation	T	C	p.L892P
A2058_SKIN	19505584	19505688	19505603	19505603	Missense_Mutation	T	C	p.F949S
JHUEM7_ENDOMETRIUM	19505584	19505688	19505615	19505615	Missense_Mutation	A	C	p.K953T
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19471557	19471656	19471643	19471643	Nonsense_Mutation	A	T	p.K379*
MM386_SKIN	19501717	19501890	19501831	19501831	Nonsense_Mutation	G	A	p.W896*
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19505584	19505688	19505596	19505596	Nonsense_Mutation	A	T	p.K947*
SW684_SOFT_TISSUE	19505584	19505688	19505583	19505584	Splice_Site	GG	AA	p.E943K
MCC13_SKIN	19505584	19505688	19505584	19505584	Splice_Site	G	A	p.E943K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMC5

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 TMC5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMC5

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RelatedDrugs for TMC5

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 TMC5

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 TMC5

Exon skipping events across known transcript of Ensembl for TMC5 from UCSC genome browser

Gene isoform structures and expression levels for TMC5

Exon skipping events with PSIs in TCGA for TMC5

Exon skipping events with PSIs in GTEx for TMC5

Open reading frame (ORF) annotation in the exon skipping event for TMC5

Infer the effects of exon skipping event on protein functional features for TMC5

SNVs in the skipped exons for TMC5

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMC5

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMC5

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMC5

RelatedDrugs for TMC5

RelatedDiseases for TMC5