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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 14861

FusionGeneSummary for GNAQ_VEPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAQ_VEPH1
Fusion gene ID: 14861
HgeneTgene
Gene symbol

GNAQ

VEPH1

Gene ID

2776

79674

Gene nameG protein subunit alpha qventricular zone expressed PH domain containing 1
SynonymsCMC1|G-ALPHA-q|GAQ|SWSMELT|VEPH
Cytomap

9q21.2

3q25.31-q25.32

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein G(q) subunit alphaguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-qventricular zone-expressed PH domain-containing protein homolog 1protein meltedventricular zone expressed PH domain homolog 1
Modification date2018052320180331
UniProtAcc

P50148

Q14D04

Ensembl transtripts involved in fusion geneENST00000286548, ENST00000397476, 
ENST00000543418, ENST00000392833, 
ENST00000362010, ENST00000392832, 
ENST00000469007, ENST00000494677, 
ENST00000537559, ENST00000468233, 
Fusion gene scores* DoF score6 X 5 X 4=1208 X 7 X 5=280
# samples 79
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAQ [Title/Abstract] AND VEPH1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDPRADTCGA-CH-5750-01AGNAQchr9

80409379

-VEPH1chr3

156983451

-
TCGALDPRADTCGA-CH-5751-01AGNAQchr9

80409379

-VEPH1chr3

156983451

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000286548ENST00000543418GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000286548ENST00000392833GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000286548ENST00000362010GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000286548ENST00000392832GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000286548ENST00000469007GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000286548ENST00000494677GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000286548ENST00000537559GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000286548ENST00000468233GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000397476ENST00000543418GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000397476ENST00000392833GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000397476ENST00000362010GNAQchr9

80409379

-VEPH1chr3

156983451

-
Frame-shitENST00000397476ENST00000392832GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000397476ENST00000469007GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000397476ENST00000494677GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000397476ENST00000537559GNAQchr9

80409379

-VEPH1chr3

156983451

-
5CDS-intronENST00000397476ENST00000468233GNAQchr9

80409379

-VEPH1chr3

156983451

-

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FusionProtFeatures for GNAQ_VEPH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNAQ

P50148

VEPH1

Q14D04

Guanine nucleotide-binding proteins (G proteins) areinvolved as modulators or transducers in various transmembranesignaling systems. Regulates B-cell selection and survival and isrequired to prevent B-cell-dependent autoimmunity. Regulateschemotaxis of BM-derived neutrophils and dendritic cells (invitro) (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for GNAQ_VEPH1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for GNAQ_VEPH1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
GNAQRGS4, RGS16, ADRBK1, RGS2, TTC1, PIK3CA, PIK3R1, RGS7, GRM7, AKAP13, RGS18, CRHR1, RGS5, BTK, RIC8A, VIPR1, F2R, MRGPRX1, TBXA2R, GNAS, CDK19, ATP4A, ADHFE1, PPT1, NT5C3A, LUM, WDR36, PLCB2, PTGIR, PLCB1, CYTH2, ARF6, CYTH1, CYTH3, IQSEC1, PSD, GNB3, AIP, ABCE1, SLC25A41, HOXB5, HAX1, NUFIP1, DGUOK, DNAAF2, TAS2R7, FYTTD1, CCR1, P2RY8, TMEM185A, CCNL2, SLC16A14, PIFO, GNB1, GNB2, GNB4, RIC8B, CD47, GNG3, GJB7, GNG4, DUSP22, ATG3, S1PR1, KIFAP3, S1PR2, TIGD5, ISG20, EXOC6, MED21, PCDHGC3, RNF111, FGB, ZNF843, SPRED2, C1QL4, TRIM25VEPH1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for GNAQ_VEPH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for GNAQ_VEPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNAQC0220633Uveal melanoma3CTD_human;ORPHANET
HgeneGNAQC0038505Sturge-Weber Syndrome2CTD_human;ORPHANET;UNIPROT
HgeneGNAQC0001925Albuminuria1CTD_human
HgeneGNAQC0005779Blood Coagulation Disorders1CTD_human
HgeneGNAQC0017668Focal glomerulosclerosis1CTD_human
HgeneGNAQC0018798Congenital Heart Defects1CTD_human
HgeneGNAQC0025202melanoma1CTD_human
HgeneGNAQC0235752Port-Wine Stain1CTD_human;HPO;ORPHANET
HgeneGNAQC0376634Craniofacial Abnormalities1CTD_human