ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PMS2

Gene summary

Gene information	Gene symbol	PMS2
	Gene ID	5395
	Gene name	PMS1 homolog 2, mismatch repair system component
	Synonyms	HNPCC4\|MLH4\|PMS2CL\|PMSL2
	Cytomap	7p22.1
	Type of gene	protein-coding
	Description	mismatch repair endonuclease PMS2DNA mismatch repair protein PMS2PMS1 homolog 2, mismatch repair proteinPMS1 protein homolog 2PMS2 postmeiotic segregation increased 2postmeiotic segregation increased 2 nirs variant 6
	Modification date	20180523
	UniProtAcc	P54278
	Context	PubMed: PMS2 [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
PMS2	GO:0006298	mismatch repair	10871409\|23709753

Top

Exon skipping events across known transcript of Ensembl for PMS2 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.

Top

Gene isoform structures and expression levels for PMS2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for PMS2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_473532	7	6017218:6017388:6018226:6018327:6022454:6022622	6018226:6018327	ENSG00000122512.10	ENST00000382321.4,ENST00000441476.2,ENST00000265849.7
exon_skip_473534	7	6018226:6018327:6022454:6022622:6026389:6027251	6022454:6022622	ENSG00000122512.10	ENST00000441476.2,ENST00000265849.7
exon_skip_473536	7	6022454:6022622:6026389:6027251:6029430:6029586	6026389:6027251	ENSG00000122512.10	ENST00000441476.2,ENST00000265849.7
exon_skip_473542	7	6026717:6027251:6029430:6029586:6031603:6031688	6029430:6029586	ENSG00000122512.10	ENST00000441476.2,ENST00000406569.3,ENST00000265849.7
exon_skip_473543	7	6031603:6031688:6035164:6035264:6036956:6037054	6035164:6035264	ENSG00000122512.10	ENST00000441476.2,ENST00000406569.3,ENST00000265849.7
exon_skip_473546	7	6035164:6035264:6036956:6037054:6038738:6038906	6036956:6037054	ENSG00000122512.10	ENST00000441476.2,ENST00000406569.3,ENST00000265849.7
exon_skip_473549	7	6036956:6037054:6038738:6038906:6042083:6042267	6038738:6038906	ENSG00000122512.10	ENST00000382321.4,ENST00000441476.2,ENST00000406569.3,ENST00000265849.7
exon_skip_473553	7	6038738:6038906:6042083:6042267:6043320:6043423	6042083:6042267	ENSG00000122512.10	ENST00000382321.4,ENST00000406569.3,ENST00000265849.7
exon_skip_473554	7	6038738:6038906:6042083:6042267:6043602:6043637	6042083:6042267	ENSG00000122512.10	ENST00000441476.2
exon_skip_473556	7	6042083:6042267:6043320:6043423:6043602:6043637	6043320:6043423	ENSG00000122512.10	ENST00000382321.4,ENST00000406569.3,ENST00000265849.7,ENST00000380416.5
exon_skip_473560	7	6043602:6043689:6045522:6045662:6048627:6048650	6045522:6045662	ENSG00000122512.10	ENST00000382321.4,ENST00000406569.3,ENST00000380416.5

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for PMS2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_473532	7	6017218:6017388:6018226:6018327:6022454:6022622	6018226:6018327	ENSG00000122512.10	ENST00000265849.7,ENST00000382321.4,ENST00000441476.2
exon_skip_473534	7	6018226:6018327:6022454:6022622:6026389:6027251	6022454:6022622	ENSG00000122512.10	ENST00000265849.7,ENST00000441476.2
exon_skip_473536	7	6022454:6022622:6026389:6027251:6029430:6029586	6026389:6027251	ENSG00000122512.10	ENST00000265849.7,ENST00000441476.2
exon_skip_473542	7	6026717:6027251:6029430:6029586:6031603:6031688	6029430:6029586	ENSG00000122512.10	ENST00000265849.7,ENST00000441476.2,ENST00000406569.3
exon_skip_473543	7	6031603:6031688:6035164:6035264:6036956:6037054	6035164:6035264	ENSG00000122512.10	ENST00000265849.7,ENST00000441476.2,ENST00000406569.3
exon_skip_473546	7	6035164:6035264:6036956:6037054:6038738:6038906	6036956:6037054	ENSG00000122512.10	ENST00000265849.7,ENST00000441476.2,ENST00000406569.3
exon_skip_473549	7	6036956:6037054:6038738:6038906:6042083:6042267	6038738:6038906	ENSG00000122512.10	ENST00000265849.7,ENST00000382321.4,ENST00000441476.2,ENST00000406569.3
exon_skip_473553	7	6038738:6038906:6042083:6042267:6043320:6043423	6042083:6042267	ENSG00000122512.10	ENST00000265849.7,ENST00000382321.4,ENST00000406569.3
exon_skip_473554	7	6038738:6038906:6042083:6042267:6043602:6043637	6042083:6042267	ENSG00000122512.10	ENST00000441476.2
exon_skip_473556	7	6042083:6042267:6043320:6043423:6043602:6043637	6043320:6043423	ENSG00000122512.10	ENST00000265849.7,ENST00000382321.4,ENST00000406569.3,ENST00000380416.5
exon_skip_473560	7	6043602:6043689:6045522:6045662:6048627:6048650	6045522:6045662	ENSG00000122512.10	ENST00000382321.4,ENST00000406569.3,ENST00000380416.5

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for PMS2

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
ENST00000265849	6018226	6018327	Frame-shift
ENST00000265849	6026389	6027251	Frame-shift
ENST00000265849	6035164	6035264	Frame-shift
ENST00000265849	6036956	6037054	Frame-shift
ENST00000265849	6042083	6042267	Frame-shift
ENST00000265849	6043320	6043423	Frame-shift
ENST00000265849	6022454	6022622	In-frame
ENST00000265849	6029430	6029586	In-frame
ENST00000265849	6038738	6038906	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
ENST00000265849	6018226	6018327	Frame-shift
ENST00000265849	6026389	6027251	Frame-shift
ENST00000265849	6035164	6035264	Frame-shift
ENST00000265849	6036956	6037054	Frame-shift
ENST00000265849	6042083	6042267	Frame-shift
ENST00000265849	6043320	6043423	Frame-shift
ENST00000265849	6022454	6022622	In-frame
ENST00000265849	6029430	6029586	In-frame
ENST00000265849	6038738	6038906	In-frame

Top

Infer the effects of exon skipping event on protein functional features for PMS2

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
ENST00000265849	2872	862	6038738	6038906	644	811	179	235
ENST00000265849	2872	862	6029430	6029586	1095	1250	329	381
ENST00000265849	2872	862	6022454	6022622	2113	2280	669	724

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
ENST00000265849	2872	862	6038738	6038906	644	811	179	235
ENST00000265849	2872	862	6029430	6029586	1095	1250	329	381
ENST00000265849	2872	862	6022454	6022622	2113	2280	669	724

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
P54278	179	235	180	183	Alternative sequence	ID=VSP_029384;Note=In isoform 4. EYAK->QASV;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	179	235	184	862	Alternative sequence	ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	179	235	199	205	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	211	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	1	862	Chain	ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2
P54278	179	235	177	194	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	223	231	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	233	237	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	182	182	Natural variant	ID=VAR_078523;Note=In HNPCC4%3B unknown pathological significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16619239;Dbxref=dbSNP:rs587779341,PMID:16619239
P54278	179	235	205	205	Natural variant	ID=VAR_078524;Note=In MMRCS and HNPCC4%3B unknown pathological significance%3B normal DNA mismatch repair activity. Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18602922,ECO:0000269\|PubMed:24027009,ECO:0000269\|PubMed:
P54278	179	235	207	207	Natural variant	ID=VAR_078525;Note=In HNPCC4%3B unknown pathological significance%3B normal DNA mismatch repair activity. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19479271,ECO:0000269\|PubMed:24027009;Dbxref=dbSNP:rs374704824,PMID:19479271,PM
P54278	329	381	184	862	Alternative sequence	ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	329	381	269	669	Alternative sequence	ID=VSP_029386;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	329	381	332	334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	329	381	343	345	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	329	381	1	862	Chain	ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2
P54278	329	381	329	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	329	381	348	363	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	669	724	184	862	Alternative sequence	ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	669	724	269	669	Alternative sequence	ID=VSP_029386;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	669	724	573	862	Alternative sequence	ID=VSP_029388;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	669	724	1	862	Chain	ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2
P54278	669	724	699	699	Natural variant	ID=VAR_079819;Note=Polymorphism%3B no effect on protein levels. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28494185;Dbxref=dbSNP:rs587781317,PMID:28494185
P54278	669	724	705	705	Natural variant	ID=VAR_012974;Note=In MMRCS and HNPCC4%3B decreases DNA mismatch repair activity. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18602922,ECO:0000269\|PubMed:24027009,ECO:0000269\|PubMed:9419979;Dbxref=dbSNP:rs267608161,P

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
P54278	179	235	180	183	Alternative sequence	ID=VSP_029384;Note=In isoform 4. EYAK->QASV;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	179	235	184	862	Alternative sequence	ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	179	235	199	205	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	211	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	1	862	Chain	ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2
P54278	179	235	177	194	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	223	231	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	233	237	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	179	235	182	182	Natural variant	ID=VAR_078523;Note=In HNPCC4%3B unknown pathological significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16619239;Dbxref=dbSNP:rs587779341,PMID:16619239
P54278	179	235	205	205	Natural variant	ID=VAR_078524;Note=In MMRCS and HNPCC4%3B unknown pathological significance%3B normal DNA mismatch repair activity. Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18602922,ECO:0000269\|PubMed:24027009,ECO:0000269\|PubMed:
P54278	179	235	207	207	Natural variant	ID=VAR_078525;Note=In HNPCC4%3B unknown pathological significance%3B normal DNA mismatch repair activity. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19479271,ECO:0000269\|PubMed:24027009;Dbxref=dbSNP:rs374704824,PMID:19479271,PM
P54278	329	381	184	862	Alternative sequence	ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	329	381	269	669	Alternative sequence	ID=VSP_029386;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	329	381	332	334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	329	381	343	345	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	329	381	1	862	Chain	ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2
P54278	329	381	329	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	329	381	348	363	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H7S
P54278	669	724	184	862	Alternative sequence	ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	669	724	269	669	Alternative sequence	ID=VSP_029386;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	669	724	573	862	Alternative sequence	ID=VSP_029388;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P54278	669	724	1	862	Chain	ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2
P54278	669	724	699	699	Natural variant	ID=VAR_079819;Note=Polymorphism%3B no effect on protein levels. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28494185;Dbxref=dbSNP:rs587781317,PMID:28494185
P54278	669	724	705	705	Natural variant	ID=VAR_012974;Note=In MMRCS and HNPCC4%3B decreases DNA mismatch repair activity. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18602922,ECO:0000269\|PubMed:24027009,ECO:0000269\|PubMed:9419979;Dbxref=dbSNP:rs267608161,P

Top

SNVs in the skipped exons for PMS2

- 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-DD-A1EG-01	exon_skip_473532	6018227	6018327	6018253	6018253	Frame_Shift_Del	C	-	p.G750fs
KIRP	TCGA-2Z-A9JL-01	exon_skip_473532	6018227	6018327	6018319	6018320	Frame_Shift_Del	GT	-	p.728_728del
LIHC	TCGA-G3-A3CJ-01	exon_skip_473534	6022455	6022622	6022571	6022571	Frame_Shift_Del	A	-	p.F686fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473534	6022455	6022622	6022597	6022597	Frame_Shift_Del	T	-	p.I679fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473536	6026390	6027251	6026653	6026653	Frame_Shift_Del	T	-	p.K581fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473536	6026390	6027251	6026881	6026881	Frame_Shift_Del	C	-	p.G505fs
LIHC	TCGA-DD-A39Y-01	exon_skip_473536	6026390	6027251	6027157	6027157	Frame_Shift_Del	T	-	p.K413fs
UCEC	TCGA-D1-A17H-01	exon_skip_473536	6026390	6027251	6027157	6027157	Frame_Shift_Del	T	-	p.K413fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473542	6029431	6029586	6029529	6029529	Frame_Shift_Del	T	-	p.K349fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473543	6035165	6035264	6035199	6035199	Frame_Shift_Del	A	-	p.F291fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473554 exon_skip_473553	6042084	6042267	6042236	6042236	Frame_Shift_Del	C	-	p.A129fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473560	6045523	6045662	6045552	6045552	Frame_Shift_Del	T	-	p.N45fs
STAD	TCGA-HU-A4GU-01	exon_skip_473536	6026390	6027251	6027156	6027157	Frame_Shift_Ins	-	T	p.D414fs
STAD	TCGA-HU-A4GU-01	exon_skip_473536	6026390	6027251	6027157	6027158	Frame_Shift_Ins	-	T	p.K413fs
LUSC	TCGA-39-5028-01	exon_skip_473536	6026390	6027251	6026709	6026709	Nonsense_Mutation	G	A	p.R563*
SKCM	TCGA-FS-A4F5-06	exon_skip_473536	6026390	6027251	6026709	6026709	Nonsense_Mutation	G	A	p.R563*
SKCM	TCGA-FS-A4F5-06	exon_skip_473536	6026390	6027251	6026709	6026709	Nonsense_Mutation	G	A	p.R563X
LUAD	TCGA-86-8073-01	exon_skip_473536	6026390	6027251	6026958	6026958	Nonsense_Mutation	C	A	p.G480*
READ	TCGA-EI-6917-01	exon_skip_473536	6026390	6027251	6027165	6027165	Nonsense_Mutation	C	A	p.E411X
BLCA	TCGA-ZF-A9R9-01	exon_skip_473543	6035165	6035264	6035259	6035259	Nonsense_Mutation	G	T	p.S270*
ACC	TCGA-OR-A5JB-01	exon_skip_473534	6022455	6022622	6022454	6022454	Splice_Site	C	T	.
LUAD	TCGA-44-7671-01	exon_skip_473542	6029431	6029586	6029588	6029588	Splice_Site	T	C	p.E330_splice
LUSC	TCGA-43-6647-01	exon_skip_473549	6038739	6038906	6038907	6038907	Splice_Site	C	A	p.E180_splice
HNSC	TCGA-CR-7364-01	exon_skip_473554 exon_skip_473553	6042084	6042267	6042083	6042083	Splice_Site	C	T	p.K179_splice

- 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
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6022455	6022622	6022510	6022526	Frame_Shift_Del	ACTTCTCGTCCGTGGCA	-	p.HATDEKY701fs
NCIH69_LUNG	6026390	6027251	6026614	6026614	Frame_Shift_Del	T	-	p.L594fs
MFE319_ENDOMETRIUM	6026390	6027251	6027001	6027001	Frame_Shift_Del	T	-	p.K465fs
LB1047EBV_MATCHED_NORMAL_TISSUE	6026390	6027251	6026824	6026825	Frame_Shift_Ins	-	G	p.P524fs
LB1047RCC_KIDNEY	6026390	6027251	6026824	6026825	Frame_Shift_Ins	-	G	p.P524fs
SW1116_LARGE_INTESTINE	6026390	6027251	6027156	6027157	Frame_Shift_Ins	-	T	p.D414fs
MDAMB453_BREAST	6022455	6022622	6022499	6022499	Missense_Mutation	C	G	p.E710D
SBC1_LUNG	6026390	6027251	6026443	6026443	Missense_Mutation	C	A	p.K651N
CHLA32_BONE	6026390	6027251	6026495	6026495	Missense_Mutation	T	C	p.H634R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	6026390	6027251	6026585	6026585	Missense_Mutation	T	C	p.Q604R
NCCIT_TESTIS	6026390	6027251	6026598	6026598	Missense_Mutation	T	C	p.M600V
ESO51_OESOPHAGUS	6026390	6027251	6026885	6026885	Missense_Mutation	T	C	p.E504G
COLO201_LARGE_INTESTINE	6026390	6027251	6026886	6026886	Missense_Mutation	C	G	p.E504Q
COLO205_LARGE_INTESTINE	6026390	6027251	6026886	6026886	Missense_Mutation	C	G	p.E504Q
JHU029_UPPER_AERODIGESTIVE_TRACT	6026390	6027251	6026897	6026897	Missense_Mutation	G	C	p.S500C
NCIH23_LUNG	6026390	6027251	6026925	6026925	Missense_Mutation	C	T	p.E491K
SNU886_LIVER	6026390	6027251	6026958	6026958	Missense_Mutation	C	T	p.G480R
NUGC2_STOMACH	6026390	6027251	6027039	6027039	Missense_Mutation	T	C	p.M453V
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6026390	6027251	6027105	6027105	Missense_Mutation	C	G	p.E431Q
GP2D_LARGE_INTESTINE	6026390	6027251	6027189	6027189	Missense_Mutation	A	G	p.S403P
GP5D_LARGE_INTESTINE	6026390	6027251	6027189	6027189	Missense_Mutation	A	G	p.S403P
SKNDZ_AUTONOMIC_GANGLIA	6026390	6027251	6027192	6027192	Missense_Mutation	G	T	p.Q402K
NCIH2342_LUNG	6029431	6029586	6029502	6029502	Missense_Mutation	G	A	p.S358F
NCIH1341_LUNG	6035165	6035264	6035178	6035178	Missense_Mutation	C	G	p.C297S
SNU46_UPPER_AERODIGESTIVE_TRACT	6035165	6035264	6035187	6035187	Missense_Mutation	C	T	p.R294Q
HCC2998_LARGE_INTESTINE	6035165	6035264	6035210	6035210	Missense_Mutation	G	T	p.D286E
EFE184_ENDOMETRIUM	6035165	6035264	6035250	6035250	Missense_Mutation	A	C	p.I273S
DU145_PROSTATE	6038739	6038906	6038879	6038879	Missense_Mutation	G	A	p.H189Y
SNU1040_LARGE_INTESTINE	6042084	6042267	6042235	6042235	Missense_Mutation	G	A	p.A129V
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6043321	6043423	6043354	6043354	Missense_Mutation	C	G	p.R107P
SW1271_LUNG	6043321	6043423	6043412	6043412	Missense_Mutation	G	A	p.H88Y
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6045523	6045662	6045573	6045573	Missense_Mutation	G	A	p.A38V
HT115_LARGE_INTESTINE	6045523	6045662	6045579	6045579	Missense_Mutation	C	T	p.S36N
SKMEL31_SKIN	6045523	6045662	6045616	6045616	Missense_Mutation	G	A	p.H24Y
NCIH187_LUNG	6018227	6018327	6018323	6018323	Nonsense_Mutation	G	A	p.Q727*
MOT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6026390	6027251	6026457	6026457	Nonsense_Mutation	T	A	p.K647*
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6026390	6027251	6026844	6026844	Nonsense_Mutation	C	A	p.E518*
SNUC4_LARGE_INTESTINE	6042084	6042267	6042101	6042101	Nonsense_Mutation	G	A	p.Q174*
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6042084	6042267	6042221	6042221	Nonsense_Mutation	G	A	p.R134*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PMS2

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_473536	7	6022454:6022622:6026389:6027251:6029430:6029586	6026389:6027251	ENST00000441476.2,ENST00000265849.7	LUSC	rs2228006	chr7:6026775	A/G	2.99e-03

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PMS2

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PMS2

Top

RelatedDrugs for PMS2

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

Top

RelatedDiseases for PMS2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PMS2	C0265325	Turcot syndrome (disorder)	4	CTD_human;ORPHANET;UNIPROT
PMS2	C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	3	CTD_human
PMS2	C0027627	Neoplasm Metastasis	1	CTD_human
PMS2	C0035412	Rhabdomyosarcoma	1	CTD_human;HPO
PMS2	C0038874	Supratentorial Neoplasms	1	CTD_human
PMS2	C0206663	Neuroectodermal Tumor, Primitive	1	CTD_human
PMS2	C0221263	Cafe-au-Lait Spots	1	CTD_human;HPO

	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

Home

Download

Statistics

Landscape

Help

Contact