ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TMPRSS3

Gene summary

Gene information	Gene symbol	TMPRSS3
	Gene ID	64699
	Gene name	transmembrane serine protease 3
	Synonyms	DFNB10\|DFNB8\|ECHOS1\|TADG12
	Cytomap	21q22.3
	Type of gene	protein-coding
	Description	transmembrane protease serine 3serine protease TADG-12transmembrane protease, serine 3tumor-associated differentially-expressed gene 12 protein
	Modification date	20180523
	UniProtAcc	P57727
	Context	PubMed: TMPRSS3 [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
TMPRSS3	GO:0006883	cellular sodium ion homeostasis	12393794

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Exon skipping events across known transcript of Ensembl for TMPRSS3 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 TMPRSS3

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 TMPRSS3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_362295	21	43791999:43792888:43795824:43795977:43796649:43796792	43795824:43795977	ENSG00000160183.9	ENST00000474596.1,ENST00000433957.2,ENST00000398405.1,ENST00000476848.1,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3
exon_skip_362296	21	43795824:43795977:43796649:43796792:43800225:43800321	43796649:43796792	ENSG00000160183.9	ENST00000433957.2,ENST00000398405.1,ENST00000476848.1
exon_skip_362297	21	43795824:43795977:43796649:43796795:43800225:43800321	43796649:43796795	ENSG00000160183.9	ENST00000474596.1,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3
exon_skip_362299	21	43802173:43802343:43803141:43803307:43804078:43804122	43803141:43803307	ENSG00000160183.9	ENST00000474596.1,ENST00000433957.2,ENST00000398405.1,ENST00000398397.3,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3
exon_skip_362305	21	43804078:43804122:43805517:43805643:43808511:43808635	43805517:43805643	ENSG00000160183.9	ENST00000474596.1,ENST00000433957.2,ENST00000398405.1,ENST00000398397.3,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3
exon_skip_362309	21	43809037:43809154:43810035:43810140:43815432:43815577	43810035:43810140	ENSG00000160183.9	ENST00000398405.1
exon_skip_362313	21	43809037:43809154:43810035:43810146:43815432:43815577	43810035:43810146	ENSG00000160183.9	ENST00000433957.2,ENST00000398397.3,ENST00000380399.1,ENST00000291532.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TMPRSS3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_362299	21	43802173:43802343:43803141:43803307:43804078:43804122	43803141:43803307	ENSG00000160183.9	ENST00000474596.1,ENST00000482761.1,ENST00000398405.1,ENST00000433957.2,ENST00000291532.3,ENST00000380399.1,ENST00000398397.3
exon_skip_362305	21	43804078:43804122:43805517:43805643:43808511:43808635	43805517:43805643	ENSG00000160183.9	ENST00000474596.1,ENST00000482761.1,ENST00000398405.1,ENST00000433957.2,ENST00000291532.3,ENST00000380399.1,ENST00000398397.3
exon_skip_362309	21	43809037:43809154:43810035:43810140:43815432:43815577	43810035:43810140	ENSG00000160183.9	ENST00000398405.1
exon_skip_362313	21	43809037:43809154:43810035:43810146:43815432:43815577	43810035:43810146	ENSG00000160183.9	ENST00000433957.2,ENST00000291532.3,ENST00000380399.1,ENST00000398397.3

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 TMPRSS3

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
ENST00000291532	43796649	43796795	Frame-shift
ENST00000433957	43796649	43796792	Frame-shift
ENST00000291532	43803141	43803307	Frame-shift
ENST00000433957	43803141	43803307	Frame-shift
ENST00000291532	43795824	43795977	In-frame
ENST00000433957	43795824	43795977	In-frame
ENST00000291532	43805517	43805643	In-frame
ENST00000433957	43805517	43805643	In-frame
ENST00000291532	43810035	43810146	In-frame
ENST00000433957	43810035	43810146	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
ENST00000291532	43803141	43803307	Frame-shift
ENST00000433957	43803141	43803307	Frame-shift
ENST00000291532	43805517	43805643	In-frame
ENST00000433957	43805517	43805643	In-frame
ENST00000291532	43810035	43810146	In-frame
ENST00000433957	43810035	43810146	In-frame

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Infer the effects of exon skipping event on protein functional features for TMPRSS3

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
ENST00000291532	3210	454	43810035	43810146	1051	1161	31	68
ENST00000433957	2420	454	43810035	43810146	264	374	31	68
ENST00000291532	3210	454	43805517	43805643	1403	1528	149	190
ENST00000433957	2420	454	43805517	43805643	616	741	149	190
ENST00000433957	2420	454	43795824	43795977	1361	1513	397	448
ENST00000291532	3210	454	43795824	43795977	2151	2303	398	449

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
ENST00000291532	3210	454	43810035	43810146	1051	1161	31	68
ENST00000433957	2420	454	43810035	43810146	264	374	31	68
ENST00000291532	3210	454	43805517	43805643	1403	1528	149	190
ENST00000433957	2420	454	43805517	43805643	616	741	149	190

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
P57727	31	68	1	127	Alternative sequence	ID=VSP_005391;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11137999;Dbxref=PMID:11137999
P57727	31	68	1	127	Alternative sequence	ID=VSP_005391;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11137999;Dbxref=PMID:11137999
P57727	31	68	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	31	68	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	31	68	53	53	Natural variant	ID=VAR_010781;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11137999,ECO:0000269\|PubMed:11424922;Dbxref=dbSNP:rs928302,PMID:11137999,PMID:11424922
P57727	31	68	53	53	Natural variant	ID=VAR_010781;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11137999,ECO:0000269\|PubMed:11424922;Dbxref=dbSNP:rs928302,PMID:11137999,PMID:11424922
P57727	31	68	46	54	Sequence conflict	Note=LKFFPIIVI->FEVFSQSSSL;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	31	68	46	54	Sequence conflict	Note=LKFFPIIVI->FEVFSQSSSL;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	31	68	1	48	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	31	68	1	48	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	31	68	49	69	Transmembrane	Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	31	68	49	69	Transmembrane	Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	149	190	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	149	190	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	149	190	129	194	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	129	194	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	142	204	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	142	204	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	109	205	Domain	Note=SRCR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00196
P57727	149	190	109	205	Domain	Note=SRCR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00196
P57727	149	190	173	173	Natural variant	ID=VAR_013493;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11907649;Dbxref=dbSNP:rs766000719,PMID:11907649
P57727	149	190	173	173	Natural variant	ID=VAR_013493;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11907649;Dbxref=dbSNP:rs766000719,PMID:11907649
P57727	149	190	70	454	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	149	190	70	454	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	397	448	401	401	Active site	Note=Charge relay system;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	397	448	294	454	Alternative sequence	ID=VSP_005394;Note=In isoform T. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11068177;Dbxref=PMID:11068177
P57727	397	448	318	454	Alternative sequence	ID=VSP_005392;Note=In isoform D. EMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT->GTSGSLCGSAALPLFQEDLQLLIEAFL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1
P57727	397	448	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	397	448	338	407	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	397	448	397	425	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	397	448	217	449	Domain	Note=Peptidase S1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00274
P57727	397	448	401	401	Mutagenesis	Note=Fails to undergo proteolytic cleavage and is unable to activate ENaC. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12393794;Dbxref=PMID:12393794
P57727	397	448	404	404	Natural variant	ID=VAR_011679;Note=In DFNB8%3B fails to undergo proteolytic cleavage and is unable to activate ENaC. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11462234,ECO:0000269\|PubMed:12393794,ECO:0000269\|PubMed:16021470;Dbxref
P57727	397	448	407	407	Natural variant	ID=VAR_013495;Note=In DFNB8%3B fails to undergo proteolytic cleavage and is unable to activate ENaC. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11424922,ECO:0000269\|PubMed:12393794;Dbxref=dbSNP:rs773780151,PMID:11424922,PMID:12
P57727	397	448	426	426	Natural variant	ID=VAR_013496;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11907649;Dbxref=dbSNP:rs56264519,PMID:11907649
P57727	397	448	427	427	Sequence conflict	Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	397	448	70	454	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	398	449	401	401	Active site	Note=Charge relay system;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	398	449	294	454	Alternative sequence	ID=VSP_005394;Note=In isoform T. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11068177;Dbxref=PMID:11068177
P57727	398	449	318	454	Alternative sequence	ID=VSP_005392;Note=In isoform D. EMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT->GTSGSLCGSAALPLFQEDLQLLIEAFL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1
P57727	398	449	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	398	449	338	407	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	398	449	397	425	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	398	449	217	449	Domain	Note=Peptidase S1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00274
P57727	398	449	401	401	Mutagenesis	Note=Fails to undergo proteolytic cleavage and is unable to activate ENaC. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12393794;Dbxref=PMID:12393794
P57727	398	449	404	404	Natural variant	ID=VAR_011679;Note=In DFNB8%3B fails to undergo proteolytic cleavage and is unable to activate ENaC. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11462234,ECO:0000269\|PubMed:12393794,ECO:0000269\|PubMed:16021470;Dbxref
P57727	398	449	407	407	Natural variant	ID=VAR_013495;Note=In DFNB8%3B fails to undergo proteolytic cleavage and is unable to activate ENaC. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11424922,ECO:0000269\|PubMed:12393794;Dbxref=dbSNP:rs773780151,PMID:11424922,PMID:12
P57727	398	449	426	426	Natural variant	ID=VAR_013496;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11907649;Dbxref=dbSNP:rs56264519,PMID:11907649
P57727	398	449	427	427	Sequence conflict	Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	398	449	70	454	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
P57727	31	68	1	127	Alternative sequence	ID=VSP_005391;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11137999;Dbxref=PMID:11137999
P57727	31	68	1	127	Alternative sequence	ID=VSP_005391;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11137999;Dbxref=PMID:11137999
P57727	31	68	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	31	68	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	31	68	53	53	Natural variant	ID=VAR_010781;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11137999,ECO:0000269\|PubMed:11424922;Dbxref=dbSNP:rs928302,PMID:11137999,PMID:11424922
P57727	31	68	53	53	Natural variant	ID=VAR_010781;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11137999,ECO:0000269\|PubMed:11424922;Dbxref=dbSNP:rs928302,PMID:11137999,PMID:11424922
P57727	31	68	46	54	Sequence conflict	Note=LKFFPIIVI->FEVFSQSSSL;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	31	68	46	54	Sequence conflict	Note=LKFFPIIVI->FEVFSQSSSL;Ontology_term=ECO:0000305;evidence=ECO:0000305
P57727	31	68	1	48	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	31	68	1	48	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	31	68	49	69	Transmembrane	Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	31	68	49	69	Transmembrane	Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	149	190	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	149	190	1	454	Chain	ID=PRO_0000088690;Note=Transmembrane protease serine 3
P57727	149	190	129	194	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	129	194	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	142	204	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	142	204	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P57727	149	190	109	205	Domain	Note=SRCR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00196
P57727	149	190	109	205	Domain	Note=SRCR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00196
P57727	149	190	173	173	Natural variant	ID=VAR_013493;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11907649;Dbxref=dbSNP:rs766000719,PMID:11907649
P57727	149	190	173	173	Natural variant	ID=VAR_013493;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11907649;Dbxref=dbSNP:rs766000719,PMID:11907649
P57727	149	190	70	454	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P57727	149	190	70	454	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for TMPRSS3

- 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
HNSC	TCGA-CQ-6228-01	exon_skip_362295	43795825	43795977	43795867	43795873	Frame_Shift_Del	GGTGTAC	-	p.V433fs
HNSC	TCGA-CQ-6228-01	exon_skip_362295	43795825	43795977	43795867	43795873	Frame_Shift_Del	GGTGTAC	-	p.VYT433fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_362309	43810036	43810140	43810094	43810094	Frame_Shift_Del	A	-	p.F49fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_362313	43810036	43810146	43810094	43810094	Frame_Shift_Del	A	-	p.F49fs
CHOL	TCGA-ZH-A8Y6-01	exon_skip_362299	43803142	43803307	43803308	43803308	Splice_Site	C	A	.
COAD	TCGA-AM-5821-01	exon_skip_362299	43803142	43803307	43803308	43803309	Splice_Site	-	TA	.
UCEC	TCGA-BS-A0TA-01	exon_skip_362299	43803142	43803307	43803308	43803309	Splice_Site	-	TA	e7-1

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

Depth of coverage in three exons

Mutation description

- 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
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	43795825	43795977	43795959	43795959	Frame_Shift_Del	G	-	p.L405fs
HEC108_ENDOMETRIUM	43795825	43795977	43795963	43795963	Frame_Shift_Del	C	-	p.G403fs
HCC2998_LARGE_INTESTINE	43810036	43810140	43810093	43810094	Frame_Shift_Ins	-	A	p.P50fs
HCC2998_LARGE_INTESTINE	43810036	43810146	43810093	43810094	Frame_Shift_Ins	-	A	p.P50fs
RS5_FIBROBLAST	43795825	43795977	43795895	43795895	Missense_Mutation	G	C	p.A426G
NCIH526_LUNG	43795825	43795977	43795943	43795943	Missense_Mutation	C	T	p.R410K
KYSE450_OESOPHAGUS	43795825	43795977	43795968	43795968	Missense_Mutation	C	T	p.G402R
NCIH650_LUNG	43796650	43796795	43796681	43796681	Missense_Mutation	C	A	p.G388V
NCIH650_LUNG	43796650	43796792	43796681	43796681	Missense_Mutation	C	A	p.G388V
TTC709_SOFT_TISSUE	43796650	43796795	43796709	43796709	Missense_Mutation	T	C	p.I379V
TTC709_SOFT_TISSUE	43796650	43796792	43796709	43796709	Missense_Mutation	T	C	p.I379V
ZR7530_BREAST	43796650	43796795	43796769	43796769	Missense_Mutation	G	A	p.H359Y
ZR7530_BREAST	43796650	43796792	43796769	43796769	Missense_Mutation	G	A	p.H359Y
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43796650	43796795	43796792	43796792	Missense_Mutation	C	G	p.G351A
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43796650	43796792	43796792	43796792	Missense_Mutation	C	G	p.G351A
SISO_CERVIX	43803142	43803307	43803277	43803277	Missense_Mutation	C	T	p.R216H
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43803142	43803307	43803277	43803277	Missense_Mutation	C	T	p.R216H
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43805518	43805643	43805578	43805578	Missense_Mutation	G	A	p.S171F
WM983B_SKIN	43805518	43805643	43805582	43805582	Missense_Mutation	C	A	p.V170L
NCIH2342_LUNG	43803142	43803307	43803198	43803198	Nonsense_Mutation	G	T	p.C242*
MCC26_SKIN	43810036	43810140	43810116	43810116	Nonsense_Mutation	G	T	p.S42*
MCC26_SKIN	43810036	43810146	43810116	43810116	Nonsense_Mutation	G	T	p.S42*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMPRSS3

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_362305	21	43804078:43804122:43805517:43805643:43808511:43808635	43805517:43805643	ENST00000474596.1,ENST00000433957.2,ENST00000398405.1,ENST00000398397.3,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3	THCA	rs2839501	chr21:43805637	C/T	1.82e-03
exon_skip_362299	21	43802173:43802343:43803141:43803307:43804078:43804122	43803141:43803307	ENST00000474596.1,ENST00000433957.2,ENST00000398405.1,ENST00000398397.3,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3	PRAD	rs2839500	chr21:43803167	T/C	2.11e-03
exon_skip_362299	21	43802173:43802343:43803141:43803307:43804078:43804122	43803141:43803307	ENST00000474596.1,ENST00000433957.2,ENST00000398405.1,ENST00000398397.3,ENST00000380399.1,ENST00000482761.1,ENST00000291532.3	PRAD	rs2839500	chr21:43803167	T/C	2.11e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMPRSS3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMPRSS3

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RelatedDrugs for TMPRSS3

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 TMPRSS3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TMPRSS3	C1832827	DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	4	CTD_human;UNIPROT
TMPRSS3	C0032273	Pneumoconiosis	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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