ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for VMP1

Gene summary

Gene information	Gene symbol	VMP1
	Gene ID	81671
	Gene name	vacuole membrane protein 1
	Synonyms	EPG3\|TANGO5\|TMEM49
	Cytomap	17q23.1
	Type of gene	protein-coding
	Description	vacuole membrane protein 1ectopic P-granules autophagy protein 3 homologtransmembrane protein 49transport and golgi organization 5 homolog
	Modification date	20180523
	UniProtAcc	Q96GC9
	Context	PubMed: VMP1 [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 VMP1 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 VMP1

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 VMP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154888	17	57785082:57785109:57808743:57808883:57812698:57812834	57808743:57808883	ENSG00000062716.6	ENST00000592106.1
exon_skip_154891	17	57785082:57785109:57808781:57808883:57812698:57812834	57808781:57808883	ENSG00000062716.6	ENST00000589823.2,ENST00000585847.1,ENST00000262291.4,ENST00000537567.1,ENST00000536180.1,ENST00000593168.1,ENST00000545362.1,ENST00000588131.1
exon_skip_154892	17	57785082:57785109:57808781:57808883:57814813:57814835	57808781:57808883	ENSG00000062716.6	ENST00000539763.1,ENST00000586245.1
exon_skip_154904	17	57808781:57808883:57812698:57812834:57814813:57814835	57812698:57812834	ENSG00000062716.6	ENST00000589823.2,ENST00000591315.1,ENST00000262291.4,ENST00000592106.1,ENST00000587259.1,ENST00000545362.1
exon_skip_154905	17	57808781:57808883:57812698:57812834:57816197:57816308	57812698:57812834	ENSG00000062716.6	ENST00000585847.1,ENST00000536180.1
exon_skip_154906	17	57808781:57808883:57812698:57812834:57842331:57842429	57812698:57812834	ENSG00000062716.6	ENST00000537567.1,ENST00000593168.1
exon_skip_154907	17	57808781:57808883:57814813:57814904:57816197:57816308	57814813:57814904	ENSG00000062716.6	ENST00000539763.1,ENST00000586245.1
exon_skip_154910	17	57812698:57812834:57814813:57814904:57816197:57816308	57814813:57814904	ENSG00000062716.6	ENST00000589823.2,ENST00000591315.1,ENST00000262291.4,ENST00000545362.1
exon_skip_154912	17	57812698:57812834:57816197:57816308:57842331:57842429	57816197:57816308	ENSG00000062716.6	ENST00000585847.1,ENST00000536180.1
exon_skip_154916	17	57812698:57812834:57842331:57842499:57851114:57851165	57842331:57842499	ENSG00000062716.6	ENST00000537567.1,ENST00000593168.1
exon_skip_154919	17	57814813:57814904:57816197:57816308:57842331:57842429	57816197:57816308	ENSG00000062716.6	ENST00000539763.1,ENST00000586245.1,ENST00000262291.4,ENST00000587945.1
exon_skip_154920	17	57814813:57814904:57816197:57816308:57842412:57842499	57816197:57816308	ENSG00000062716.6	ENST00000589823.2
exon_skip_154924	17	57816197:57816308:57842331:57842499:57851114:57851165	57842331:57842499	ENSG00000062716.6	ENST00000539763.1,ENST00000262291.4,ENST00000587945.1,ENST00000536180.1
exon_skip_154930	17	57816197:57816308:57851114:57851246:57886156:57886237	57851114:57851246	ENSG00000062716.6	ENST00000545362.1
exon_skip_154933	17	57842412:57842499:57851114:57851246:57886156:57886237	57851114:57851246	ENSG00000062716.6	ENST00000539763.1,ENST00000262291.4,ENST00000537567.1,ENST00000536180.1
exon_skip_154937	17	57851114:57851246:57886156:57886237:57889030:57889147	57886156:57886237	ENSG00000062716.6	ENST00000539763.1,ENST00000262291.4,ENST00000591877.1,ENST00000537567.1,ENST00000536180.1,ENST00000545362.1
exon_skip_154943	17	57886156:57886237:57889030:57889147:57895072:57895134	57889030:57889147	ENSG00000062716.6	ENST00000539763.1,ENST00000262291.4,ENST00000592619.1,ENST00000591877.1,ENST00000537567.1,ENST00000536180.1,ENST00000545362.1
exon_skip_154945	17	57889030:57889147:57895072:57895134:57911372:57911411	57895072:57895134	ENSG00000062716.6	ENST00000591877.1
exon_skip_154946	17	57889030:57889147:57895072:57895134:57915655:57915758	57895072:57895134	ENSG00000062716.6	ENST00000539763.1,ENST00000262291.4,ENST00000592619.1,ENST00000537567.1,ENST00000536180.1,ENST00000545362.1
exon_skip_154948	17	57895072:57895134:57911372:57911411:57915655:57915758	57911372:57911411	ENSG00000062716.6	ENST00000591877.1
exon_skip_154949	17	57895072:57895134:57915655:57915758:57917128:57917364	57915655:57915758	ENSG00000062716.6	ENST00000539763.1,ENST00000262291.4,ENST00000592619.1,ENST00000537567.1,ENST00000536180.1,ENST00000545362.1
exon_skip_154956	17	57915215:57915573:57915672:57915758:57917128:57917364	57915672:57915758	ENSG00000062716.6	ENST00000588617.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for VMP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154888	17	57785082:57785109:57808743:57808883:57812698:57812834	57808743:57808883	ENSG00000062716.6	ENST00000592106.1
exon_skip_154891	17	57785082:57785109:57808781:57808883:57812698:57812834	57808781:57808883	ENSG00000062716.6	ENST00000262291.4,ENST00000593168.1,ENST00000537567.1,ENST00000585847.1,ENST00000536180.1,ENST00000588131.1,ENST00000589823.2,ENST00000545362.1
exon_skip_154892	17	57785082:57785109:57808781:57808883:57814813:57814835	57808781:57808883	ENSG00000062716.6	ENST00000586245.1,ENST00000539763.1
exon_skip_154904	17	57808781:57808883:57812698:57812834:57814813:57814835	57812698:57812834	ENSG00000062716.6	ENST00000262291.4,ENST00000589823.2,ENST00000592106.1,ENST00000591315.1,ENST00000545362.1,ENST00000587259.1
exon_skip_154905	17	57808781:57808883:57812698:57812834:57816197:57816308	57812698:57812834	ENSG00000062716.6	ENST00000585847.1,ENST00000536180.1
exon_skip_154906	17	57808781:57808883:57812698:57812834:57842331:57842429	57812698:57812834	ENSG00000062716.6	ENST00000593168.1,ENST00000537567.1
exon_skip_154907	17	57808781:57808883:57814813:57814904:57816197:57816308	57814813:57814904	ENSG00000062716.6	ENST00000586245.1,ENST00000539763.1
exon_skip_154910	17	57812698:57812834:57814813:57814904:57816197:57816308	57814813:57814904	ENSG00000062716.6	ENST00000262291.4,ENST00000589823.2,ENST00000591315.1,ENST00000545362.1
exon_skip_154912	17	57812698:57812834:57816197:57816308:57842331:57842429	57816197:57816308	ENSG00000062716.6	ENST00000585847.1,ENST00000536180.1
exon_skip_154916	17	57812698:57812834:57842331:57842499:57851114:57851165	57842331:57842499	ENSG00000062716.6	ENST00000593168.1,ENST00000537567.1
exon_skip_154919	17	57814813:57814904:57816197:57816308:57842331:57842429	57816197:57816308	ENSG00000062716.6	ENST00000262291.4,ENST00000586245.1,ENST00000539763.1,ENST00000587945.1
exon_skip_154920	17	57814813:57814904:57816197:57816308:57842412:57842499	57816197:57816308	ENSG00000062716.6	ENST00000589823.2
exon_skip_154924	17	57816197:57816308:57842331:57842499:57851114:57851165	57842331:57842499	ENSG00000062716.6	ENST00000262291.4,ENST00000539763.1,ENST00000587945.1,ENST00000536180.1
exon_skip_154930	17	57816197:57816308:57851114:57851246:57886156:57886237	57851114:57851246	ENSG00000062716.6	ENST00000545362.1
exon_skip_154933	17	57842412:57842499:57851114:57851246:57886156:57886237	57851114:57851246	ENSG00000062716.6	ENST00000262291.4,ENST00000537567.1,ENST00000539763.1,ENST00000536180.1
exon_skip_154937	17	57851114:57851246:57886156:57886237:57889030:57889147	57886156:57886237	ENSG00000062716.6	ENST00000262291.4,ENST00000537567.1,ENST00000539763.1,ENST00000536180.1,ENST00000545362.1,ENST00000591877.1
exon_skip_154943	17	57886156:57886237:57889030:57889147:57895072:57895134	57889030:57889147	ENSG00000062716.6	ENST00000262291.4,ENST00000537567.1,ENST00000539763.1,ENST00000536180.1,ENST00000545362.1,ENST00000592619.1,ENST00000591877.1
exon_skip_154945	17	57889030:57889147:57895072:57895134:57911372:57911411	57895072:57895134	ENSG00000062716.6	ENST00000591877.1
exon_skip_154946	17	57889030:57889147:57895072:57895134:57915655:57915758	57895072:57895134	ENSG00000062716.6	ENST00000262291.4,ENST00000537567.1,ENST00000539763.1,ENST00000536180.1,ENST00000545362.1,ENST00000592619.1
exon_skip_154948	17	57895072:57895134:57911372:57911411:57915655:57915758	57911372:57911411	ENSG00000062716.6	ENST00000591877.1
exon_skip_154949	17	57895072:57895134:57915655:57915758:57917128:57917364	57915655:57915758	ENSG00000062716.6	ENST00000262291.4,ENST00000537567.1,ENST00000539763.1,ENST00000536180.1,ENST00000545362.1,ENST00000592619.1
exon_skip_154956	17	57915215:57915573:57915672:57915758:57917128:57917364	57915672:57915758	ENSG00000062716.6	ENST00000588617.1

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 VMP1

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
ENST00000262291	57808781	57808883	5CDS-5UTR
ENST00000262291	57812698	57812834	Frame-shift
ENST00000262291	57814813	57814904	Frame-shift
ENST00000262291	57895072	57895134	Frame-shift
ENST00000262291	57915655	57915758	Frame-shift
ENST00000262291	57816197	57816308	In-frame
ENST00000262291	57842331	57842499	In-frame
ENST00000262291	57851114	57851246	In-frame
ENST00000262291	57886156	57886237	In-frame
ENST00000262291	57889030	57889147	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
ENST00000262291	57808781	57808883	5CDS-5UTR
ENST00000262291	57812698	57812834	Frame-shift
ENST00000262291	57814813	57814904	Frame-shift
ENST00000262291	57895072	57895134	Frame-shift
ENST00000262291	57915655	57915758	Frame-shift
ENST00000262291	57816197	57816308	In-frame
ENST00000262291	57842331	57842499	In-frame
ENST00000262291	57851114	57851246	In-frame
ENST00000262291	57886156	57886237	In-frame
ENST00000262291	57889030	57889147	In-frame

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Infer the effects of exon skipping event on protein functional features for VMP1

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
ENST00000262291	2729	406	57816197	57816308	614	724	101	138
ENST00000262291	2729	406	57842331	57842499	725	892	138	194
ENST00000262291	2729	406	57851114	57851246	893	1024	194	238
ENST00000262291	2729	406	57886156	57886237	1025	1105	238	265
ENST00000262291	2729	406	57889030	57889147	1106	1222	265	304

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
ENST00000262291	2729	406	57816197	57816308	614	724	101	138
ENST00000262291	2729	406	57842331	57842499	725	892	138	194
ENST00000262291	2729	406	57851114	57851246	893	1024	194	238
ENST00000262291	2729	406	57886156	57886237	1025	1105	238	265
ENST00000262291	2729	406	57889030	57889147	1106	1222	265	304

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
Q96GC9	101	138	1	192	Alternative sequence	ID=VSP_056106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96GC9	101	138	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	101	138	99	109	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	101	138	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	101	138	110	130	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	138	194	1	192	Alternative sequence	ID=VSP_056106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96GC9	138	194	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	138	194	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	138	194	179	179	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96GC9	138	194	179	179	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96GC9	138	194	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	194	238	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	194	238	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	194	238	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	238	265	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	238	265	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	238	265	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	238	265	251	271	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	265	304	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	265	304	272	273	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	295	305	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	251	271	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	274	294	Transmembrane	Note=Helical;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
Q96GC9	101	138	1	192	Alternative sequence	ID=VSP_056106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96GC9	101	138	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	101	138	99	109	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	101	138	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	101	138	110	130	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	138	194	1	192	Alternative sequence	ID=VSP_056106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96GC9	138	194	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	138	194	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	138	194	179	179	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96GC9	138	194	179	179	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96GC9	138	194	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	194	238	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	194	238	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	194	238	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	238	265	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	238	265	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	238	265	131	250	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	238	265	251	271	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	2	406	Chain	ID=PRO_0000284546;Note=Vacuole membrane protein 1
Q96GC9	265	304	173	316	Region	Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:30093494;Dbxref=PMID:30093494
Q96GC9	265	304	272	273	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	295	305	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	251	271	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96GC9	265	304	274	294	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for VMP1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_154906 exon_skip_154904 exon_skip_154905	57812699	57812834	57812790	57812790	Frame_Shift_Del	T	-	p.Y56fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_154920 exon_skip_154912 exon_skip_154919	57816198	57816308	57816256	57816256	Frame_Shift_Del	T	-	p.I121fs
LIHC	TCGA-DD-A3A0-01	exon_skip_154916 exon_skip_154924	57842332	57842499	57842385	57842385	Frame_Shift_Del	T	-	p.N156fs
LIHC	TCGA-DD-A1EG-01	exon_skip_154943	57889031	57889147	57889076	57889076	Frame_Shift_Del	T	-	p.F281fs
LIHC	TCGA-DD-A39Y-01	exon_skip_154943	57889031	57889147	57889087	57889087	Frame_Shift_Del	T	-	p.P284fs
KICH	TCGA-KM-8438-01	exon_skip_154946 exon_skip_154945	57895073	57895134	57895131	57895131	Frame_Shift_Del	T	-	p.I324fs
STAD	TCGA-BR-4201-01	exon_skip_154943	57889031	57889147	57889086	57889087	Frame_Shift_Ins	-	T	p.P284fs
KIRC	TCGA-BP-4981-01	exon_skip_154956 exon_skip_154949	57915656	57915758	57915760	57915760	Splice_Site	T	C	.
KIRC	TCGA-BP-4981-01	exon_skip_154956 exon_skip_154949	57915673	57915758	57915760	57915760	Splice_Site	T	C	.

- 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
SNU475_LIVER	57915673	57915758	57915734	57915753	Frame_Shift_Del	CAAAAGCGAAATGGGCACAC	-	p.KSEMGTP352fs
SNU475_LIVER	57915656	57915758	57915734	57915753	Frame_Shift_Del	CAAAAGCGAAATGGGCACAC	-	p.KSEMGTP352fs
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57915673	57915758	57915701	57915702	Frame_Shift_Ins	-	TACC	p.-342fs
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57915656	57915758	57915701	57915702	Frame_Shift_Ins	-	TACC	p.-342fs
LOVO_LARGE_INTESTINE	57812699	57812834	57812701	57812701	Missense_Mutation	C	A	p.P27T
HS863T_FIBROBLAST	57812699	57812834	57812749	57812749	Missense_Mutation	A	T	p.N43Y
CHL1_SKIN	57812699	57812834	57812761	57812761	Missense_Mutation	T	C	p.W47R
HMCB_SKIN	57812699	57812834	57812761	57812761	Missense_Mutation	T	C	p.W47R
KYSE180_OESOPHAGUS	57812699	57812834	57812806	57812806	Missense_Mutation	C	T	p.L62F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57814814	57814904	57814861	57814861	Missense_Mutation	C	T	p.A87V
NCIH847_LUNG	57816198	57816308	57816234	57816234	Missense_Mutation	G	A	p.A114T
SNU175_LARGE_INTESTINE	57816198	57816308	57816234	57816234	Missense_Mutation	G	A	p.A114T
SNU1040_LARGE_INTESTINE	57842332	57842499	57842377	57842377	Missense_Mutation	T	C	p.S154P
JHUEM1_ENDOMETRIUM	57842332	57842499	57842399	57842399	Missense_Mutation	C	T	p.P161L
SW684_SOFT_TISSUE	57851115	57851246	57851152	57851152	Missense_Mutation	T	C	p.F207S
ONS76_CENTRAL_NERVOUS_SYSTEM	57851115	57851246	57851185	57851185	Missense_Mutation	A	G	p.E218G
RPMI7951_SKIN	57886157	57886237	57886170	57886170	Missense_Mutation	G	A	p.R243Q
CW2_LARGE_INTESTINE	57886157	57886237	57886173	57886173	Missense_Mutation	C	T	p.A244V
HEC59_ENDOMETRIUM	57889031	57889147	57889063	57889063	Missense_Mutation	A	G	p.I276M
BICR18_UPPER_AERODIGESTIVE_TRACT	57895073	57895134	57895124	57895124	Missense_Mutation	G	A	p.A322T
HEC151_ENDOMETRIUM	57915673	57915758	57915669	57915669	Missense_Mutation	A	T	p.I330L
HEC151_ENDOMETRIUM	57915656	57915758	57915669	57915669	Missense_Mutation	A	T	p.I330L
NCIH1781_LUNG	57915673	57915758	57915675	57915675	Missense_Mutation	C	T	p.P332S
NCIH1781_LUNG	57915656	57915758	57915675	57915675	Missense_Mutation	C	T	p.P332S
PACADD137_PANCREAS	57915673	57915758	57915712	57915712	Missense_Mutation	C	T	p.A344V
PACADD137_PANCREAS	57915656	57915758	57915712	57915712	Missense_Mutation	C	T	p.A344V
ECC10_STOMACH	57915673	57915758	57915716	57915716	Missense_Mutation	A	T	p.Q345H
ECC10_STOMACH	57915656	57915758	57915716	57915716	Missense_Mutation	A	T	p.Q345H
HCC2108_LUNG	57915673	57915758	57915718	57915718	Missense_Mutation	G	A	p.R346Q
HCC2108_LUNG	57915656	57915758	57915718	57915718	Missense_Mutation	G	A	p.R346Q
HCC1195_LUNG	57915673	57915758	57915743	57915743	Missense_Mutation	A	C	p.E354D
HCC1195_LUNG	57915656	57915758	57915743	57915743	Missense_Mutation	A	C	p.E354D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VMP1

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 VMP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VMP1

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RelatedDrugs for VMP1

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 VMP1

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 VMP1

Exon skipping events across known transcript of Ensembl for VMP1 from UCSC genome browser

Gene isoform structures and expression levels for VMP1

Exon skipping events with PSIs in TCGA for VMP1

Exon skipping events with PSIs in GTEx for VMP1

Open reading frame (ORF) annotation in the exon skipping event for VMP1

Infer the effects of exon skipping event on protein functional features for VMP1

SNVs in the skipped exons for VMP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VMP1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VMP1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VMP1

RelatedDrugs for VMP1

RelatedDiseases for VMP1