ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HVCN1

Gene summary

Gene information	Gene symbol	HVCN1
	Gene ID	84329
	Gene name	hydrogen voltage gated channel 1
	Synonyms	HV1\|VSOP
	Cytomap	12q24.11
	Type of gene	protein-coding
	Description	voltage-gated hydrogen channel 1voltage sensor domain-only protein
	Modification date	20180519
	UniProtAcc	Q96D96
	Context	PubMed: HVCN1 [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
HVCN1	GO:0010043	response to zinc ion	16554753
HVCN1	GO:0071294	cellular response to zinc ion	22020278
HVCN1	GO:0071467	cellular response to pH	22020278
HVCN1	GO:1902600	proton transmembrane transport	22020278

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Exon skipping events across known transcript of Ensembl for HVCN1 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 HVCN1

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 HVCN1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_96415	12	111065645:111065981:111087972:111088085:111089021:111089253	111087972:111088085	ENSG00000122986.9	ENST00000548312.1
exon_skip_96418	12	111087972:111088085:111089021:111089253:111093038:111093143	111089021:111089253	ENSG00000122986.9	ENST00000356742.5,ENST00000548312.1,ENST00000242607.8,ENST00000439744.2
exon_skip_96419	12	111089129:111089253:111093038:111093143:111098968:111099253	111093038:111093143	ENSG00000122986.9	ENST00000356742.5,ENST00000548312.1,ENST00000549442.1,ENST00000242607.8,ENST00000439744.2
exon_skip_96421	12	111093038:111093143:111098968:111099253:111121029:111121069	111098968:111099253	ENSG00000122986.9	ENST00000356742.5,ENST00000548312.1,ENST00000549442.1,ENST00000242607.8
exon_skip_96422	12	111093038:111093143:111099084:111099253:111121029:111121069	111099084:111099253	ENSG00000122986.9	ENST00000547887.1
exon_skip_96425	12	111099084:111099253:111121029:111121069:111126429:111126513	111121029:111121069	ENSG00000122986.9	ENST00000548312.1,ENST00000549442.1,ENST00000242607.8,ENST00000546713.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HVCN1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_96415	12	111065645:111065981:111087972:111088085:111089021:111089253	111087972:111088085	ENSG00000122986.9	ENST00000548312.1
exon_skip_96418	12	111087972:111088085:111089021:111089253:111093038:111093143	111089021:111089253	ENSG00000122986.9	ENST00000548312.1,ENST00000242607.8,ENST00000356742.5,ENST00000439744.2
exon_skip_96419	12	111089129:111089253:111093038:111093143:111098968:111099253	111093038:111093143	ENSG00000122986.9	ENST00000548312.1,ENST00000242607.8,ENST00000356742.5,ENST00000439744.2,ENST00000549442.1
exon_skip_96421	12	111093038:111093143:111098968:111099253:111121029:111121069	111098968:111099253	ENSG00000122986.9	ENST00000548312.1,ENST00000242607.8,ENST00000356742.5,ENST00000549442.1
exon_skip_96422	12	111093038:111093143:111099084:111099253:111121029:111121069	111099084:111099253	ENSG00000122986.9	ENST00000547887.1
exon_skip_96425	12	111099084:111099253:111121029:111121069:111126429:111126513	111121029:111121069	ENSG00000122986.9	ENST00000548312.1,ENST00000242607.8,ENST00000549442.1,ENST00000546713.1

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 HVCN1

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
ENST00000242607	111121029	111121069	3UTR-3CDS
ENST00000242607	111089021	111089253	Frame-shift
ENST00000356742	111089021	111089253	Frame-shift
ENST00000242607	111093038	111093143	In-frame
ENST00000356742	111093038	111093143	In-frame
ENST00000242607	111098968	111099253	In-frame
ENST00000356742	111098968	111099253	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
ENST00000242607	111121029	111121069	3UTR-3CDS
ENST00000242607	111089021	111089253	Frame-shift
ENST00000356742	111089021	111089253	Frame-shift
ENST00000242607	111093038	111093143	In-frame
ENST00000356742	111093038	111093143	In-frame
ENST00000242607	111098968	111099253	In-frame
ENST00000356742	111098968	111099253	In-frame

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Infer the effects of exon skipping event on protein functional features for HVCN1

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
ENST00000242607	1651	273	111098968	111099253	203	487	7	102
ENST00000356742	2206	273	111098968	111099253	776	1060	7	102
ENST00000242607	1651	273	111093038	111093143	488	592	102	137
ENST00000356742	2206	273	111093038	111093143	1061	1165	102	137

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
ENST00000242607	1651	273	111098968	111099253	203	487	7	102
ENST00000356742	2206	273	111098968	111099253	776	1060	7	102
ENST00000242607	1651	273	111093038	111093143	488	592	102	137
ENST00000356742	2206	273	111093038	111093143	1061	1165	102	137

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
Q96D96	7	102	1	20	Alternative sequence	ID=VSP_045052;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96D96	7	102	1	20	Alternative sequence	ID=VSP_045052;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96D96	7	102	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	7	102	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	7	102	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	7	102	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	7	102	46	55	Compositional bias	Note=Poly-Glu
Q96D96	7	102	46	55	Compositional bias	Note=Poly-Glu
Q96D96	7	102	29	29	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	29	29	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	29	29	Mutagenesis	Note=Loss of a phosphorylation site. Reduces phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	29	29	Mutagenesis	Note=Loss of a phosphorylation site. Reduces phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Mutagenesis	Note=Loss of a phosphorylation site. Strongly reduces phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Mutagenesis	Note=Loss of a phosphorylation site. Strongly reduces phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	1	100	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	7	102	1	100	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	7	102	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	7	102	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	102	137	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	102	137	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	102	137	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	102	137	112	112	Mutagenesis	Note=Alters channel selectivity. Converts the proton channel to an anion channel. D->A%2CF%2CN%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=Alters channel selectivity. Converts the proton channel to an anion channel. D->A%2CF%2CN%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=No effect on channel activity and proton selectivity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=No effect on channel activity and proton selectivity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=Abolishes channel activity. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=Abolishes channel activity. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	122	138	Topological domain	Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	122	138	Topological domain	Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q96D96	7	102	1	20	Alternative sequence	ID=VSP_045052;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96D96	7	102	1	20	Alternative sequence	ID=VSP_045052;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96D96	7	102	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	7	102	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	7	102	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	7	102	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	7	102	46	55	Compositional bias	Note=Poly-Glu
Q96D96	7	102	46	55	Compositional bias	Note=Poly-Glu
Q96D96	7	102	29	29	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	29	29	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	29	29	Mutagenesis	Note=Loss of a phosphorylation site. Reduces phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	29	29	Mutagenesis	Note=Loss of a phosphorylation site. Reduces phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Mutagenesis	Note=Loss of a phosphorylation site. Strongly reduces phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	97	97	Mutagenesis	Note=Loss of a phosphorylation site. Strongly reduces phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20037153;Dbxref=PMID:20037153
Q96D96	7	102	1	100	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	7	102	1	100	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	7	102	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	7	102	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	102	137	66	102	Alternative sequence	ID=VSP_034395;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96D96	102	137	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	102	137	1	273	Chain	ID=PRO_0000342187;Note=Voltage-gated hydrogen channel 1
Q96D96	102	137	112	112	Mutagenesis	Note=Alters channel selectivity. Converts the proton channel to an anion channel. D->A%2CF%2CN%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=Alters channel selectivity. Converts the proton channel to an anion channel. D->A%2CF%2CN%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=No effect on channel activity and proton selectivity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=No effect on channel activity and proton selectivity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=Abolishes channel activity. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	112	112	Mutagenesis	Note=Abolishes channel activity. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22020278;Dbxref=PMID:22020278
Q96D96	102	137	122	138	Topological domain	Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	122	138	Topological domain	Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96D96	102	137	101	121	Transmembrane	Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for HVCN1

- 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-A3A0-01	exon_skip_96418	111089022	111089253	111089155	111089155	Frame_Shift_Del	A	-	p.F170fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_96419	111093039	111093143	111093110	111093110	Frame_Shift_Del	G	-	p.L115fs
LIHC	TCGA-DD-A1EG-01	exon_skip_96421	111098969	111099253	111099006	111099006	Frame_Shift_Del	C	-	p.G90fs
LIHC	TCGA-DD-A1EG-01	exon_skip_96421	111098969	111099253	111099019	111099019	Frame_Shift_Del	G	-	p.L86fs
KIRC	TCGA-CZ-4853-01	exon_skip_96418	111089022	111089253	111089051	111089052	Frame_Shift_Ins	-	T	p.A205fs
KIRC	TCGA-CZ-4853-01	exon_skip_96418	111089022	111089253	111089051	111089052	Frame_Shift_Ins	-	T	p.R205fs
HNSC	TCGA-P3-A5QF-01	exon_skip_96421	111098969	111099253	111098971	111098971	Nonsense_Mutation	G	A	p.Q102*

- 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
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111089022	111089253	111089171	111089171	Frame_Shift_Del	A	-	p.F166fs
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111098969	111099253	111099035	111099035	Frame_Shift_Del	G	-	p.P80fs
LS180_LARGE_INTESTINE	111098969	111099253	111099047	111099048	Frame_Shift_Ins	-	G	p.P76fs
LN229_CENTRAL_NERVOUS_SYSTEM	111087973	111088085	111088052	111088052	Missense_Mutation	C	T	p.R226Q
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111087973	111088085	111088070	111088070	Missense_Mutation	A	C	p.V220G
HEC1A_ENDOMETRIUM	111089022	111089253	111089136	111089136	Missense_Mutation	C	T	p.V177M
HEC1_ENDOMETRIUM	111089022	111089253	111089136	111089136	Missense_Mutation	C	T	p.V177M
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111089022	111089253	111089165	111089165	Missense_Mutation	T	C	p.H167R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111089022	111089253	111089165	111089165	Missense_Mutation	T	C	p.H167R
CHP134_AUTONOMIC_GANGLIA	111089022	111089253	111089206	111089206	Missense_Mutation	C	A	p.E153D
HCC1569_BREAST	111098969	111099253	111098977	111098977	Missense_Mutation	T	C	p.R100G
SNUC4_LARGE_INTESTINE	111098969	111099253	111099034	111099034	Missense_Mutation	C	T	p.A81T
M14_SKIN	111098969	111099253	111099049	111099049	Missense_Mutation	G	A	p.P76S
K029AX_SKIN	111098969	111099253	111099079	111099079	Missense_Mutation	C	T	p.E66K
K029AX_SKIN	111099085	111099253	111099079	111099079	Missense_Mutation	C	T	p.E66K
KYSE180_OESOPHAGUS	111098969	111099253	111099087	111099087	Missense_Mutation	G	A	p.S63L
KYSE180_OESOPHAGUS	111099085	111099253	111099087	111099087	Missense_Mutation	G	A	p.S63L
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111098969	111099253	111099094	111099094	Missense_Mutation	G	A	p.P61S
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111099085	111099253	111099094	111099094	Missense_Mutation	G	A	p.P61S
SNGM_ENDOMETRIUM	111098969	111099253	111099109	111099109	Missense_Mutation	G	C	p.Q56E
SNGM_ENDOMETRIUM	111099085	111099253	111099109	111099109	Missense_Mutation	G	C	p.Q56E
LS411N_LARGE_INTESTINE	111098969	111099253	111099109	111099109	Missense_Mutation	G	C	p.Q56E
LS411N_LARGE_INTESTINE	111099085	111099253	111099109	111099109	Missense_Mutation	G	C	p.Q56E
CW2_LARGE_INTESTINE	111098969	111099253	111099119	111099119	Missense_Mutation	C	A	p.E52D
CW2_LARGE_INTESTINE	111099085	111099253	111099119	111099119	Missense_Mutation	C	A	p.E52D
NCIH128_LUNG	111098969	111099253	111099141	111099141	Missense_Mutation	C	A	p.W45L
NCIH128_LUNG	111099085	111099253	111099141	111099141	Missense_Mutation	C	A	p.W45L
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111098969	111099253	111099150	111099150	Missense_Mutation	T	C	p.Y42C
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111099085	111099253	111099150	111099150	Missense_Mutation	T	C	p.Y42C
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111098969	111099253	111099150	111099150	Missense_Mutation	T	C	p.Y42C
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111099085	111099253	111099150	111099150	Missense_Mutation	T	C	p.Y42C
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111098969	111099253	111099184	111099184	Missense_Mutation	C	T	p.V31M
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111099085	111099253	111099184	111099184	Missense_Mutation	C	T	p.V31M
IMR5_AUTONOMIC_GANGLIA	111098969	111099253	111099186	111099186	Missense_Mutation	A	T	p.V30D
IMR5_AUTONOMIC_GANGLIA	111099085	111099253	111099186	111099186	Missense_Mutation	A	T	p.V30D
HCC2450_LUNG	111098969	111099253	111099212	111099212	Missense_Mutation	C	A	p.M21I
HCC2450_LUNG	111099085	111099253	111099212	111099212	Missense_Mutation	C	A	p.M21I
MCF7_BREAST	111098969	111099253	111099228	111099228	Missense_Mutation	G	C	p.A16G
MCF7_BREAST	111099085	111099253	111099228	111099228	Missense_Mutation	G	C	p.A16G
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111098969	111099253	111098970	111098970	Splice_Site	T	C	p.Q102R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HVCN1

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 HVCN1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HVCN1

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RelatedDrugs for HVCN1

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 HVCN1

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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