FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 41651

FusionGeneSummary for VPS8_HTR3C

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS8_HTR3C
Fusion gene ID: 41651
HgeneTgene
Gene symbol

VPS8

HTR3C

Gene ID

23355

170572

Gene nameVPS8, CORVET complex subunit5-hydroxytryptamine receptor 3C
SynonymsKIAA0804-
Cytomap

3q27.2

3q27.1

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 8 homologvacuolar protein sorting 8 homolog5-hydroxytryptamine receptor 3C5-HT3-C5-HT3C5-hydroxytryptamine (serotonin) receptor 3, family member C5-hydroxytryptamine (serotonin) receptor 3C, ionotropic5-hydroxytryptamine receptor 3 subunit Cserotonin receptor 3C
Modification date2018051920180523
UniProtAcc

Q8N3P4

Q8WXA8

Ensembl transtripts involved in fusion geneENST00000437079, ENST00000287546, 
ENST00000436792, ENST00000446204, 
ENST00000424463, ENST00000463687, 
ENST00000318351, 
Fusion gene scores* DoF score9 X 5 X 4=1804 X 2 X 4=32
# samples 84
** MAII scorelog2(8/180*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: VPS8 [Title/Abstract] AND HTR3C [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
TCGALDSTADTCGA-BR-8060-01AVPS8chr3

184530013

+HTR3Cchr3

183773100

+
* 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
5UTR-3CDSENST00000437079ENST00000318351VPS8chr3

184530013

+HTR3Cchr3

183773100

+
5UTR-3CDSENST00000287546ENST00000318351VPS8chr3

184530013

+HTR3Cchr3

183773100

+
5UTR-3CDSENST00000436792ENST00000318351VPS8chr3

184530013

+HTR3Cchr3

183773100

+
5UTR-3CDSENST00000446204ENST00000318351VPS8chr3

184530013

+HTR3Cchr3

183773100

+
intron-3CDSENST00000424463ENST00000318351VPS8chr3

184530013

+HTR3Cchr3

183773100

+
intron-3CDSENST00000463687ENST00000318351VPS8chr3

184530013

+HTR3Cchr3

183773100

+

Top

FusionProtFeatures for VPS8_HTR3C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS8

Q8N3P4

HTR3C

Q8WXA8

Plays a role in vesicle-mediated protein trafficking ofthe endocytic membrane transport pathway. Believed to act as acomponent of the putative CORVET endosomal tethering complexeswhich is proposed to be involved in the Rab5-to-Rab7 endosomeconversion probably implicating MON1A/B, and via binding SNAREsand SNARE complexes to mediate tethering and docking events duringSNARE-mediated membrane fusion. The CORVET complex is proposed tofunction as a Rab5 effector to mediate early endosome fusionprobably in specific endosome subpopulations (PubMed:25266290).Functions predominantly in APPL1-containing endosomes(PubMed:25266290). {ECO:0000269|PubMed:25266290,ECO:0000305|PubMed:25266290}. This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functionsas a neurotransmitter, a hormone, and a mitogen. This receptor isa ligand-gated ion channel, which when activated causes fast,depolarizing responses. It is a cation-specific, but otherwiserelatively nonselective, ion channel.

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


Top

FusionGeneSequence for VPS8_HTR3C


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).

Top

FusionGenePPI for VPS8_HTR3C


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
VPS8SMAD9, PNKD, PTGER3, ALDH3A2, NTRK1, VPS11, VPS18, VPS16, TGFBRAP1, VIPR2, SIGLECL1, UXS1, FZD10, KIF2B, EDNRBHTR3CMBOAT7, LSR, METTL25, TMEM87A, PIGO, MGAT1, ALG9, GPAA1, ENTPD6, TMTC3, KIAA2013, NSDHL, TPST2, MANEAL, SLC38A10, LEMD3, SLC35B2, SPPL2B, TMED4, DGCR2, C1GALT1C1, TMEM186, C3orf58, ITPRIP, PGAP1, SEC11C, ATP11C, RDH11, GRAMD1A, FZD2, NHLRC3, TMEM30A, NETO2, WLS, FAM69B, ERMP1, POMT2, FUT8, PIGM, UGT3A2, IMPAD1, TMPPE, FAM69A, SEMA4C, ABHD3, GJA1, TMEM39A, TMEM223, TMEM206, SUN1, SLC38A9, POMT1, SPG7, DAG1, ARL6IP5, LMF1, WRB, TMX2, TUSC3, TMEM104, TMEM179B, B4GALT1, FAM189B, ALG10, TMEM231, CHST12, RHBDD1, LRRC8A, ABHD16A, GP1BB, EDA, SLC47A1, C10orf35, LRFN3, EMC8, LMF2, KIAA1715, RNF130, BRI3BP, ARHGAP8, GLT8D1


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


Top

RelatedDrugs for VPS8_HTR3C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHTR3CQ8WXA8DB00898Ethanol5-hydroxytryptamine receptor 3Csmall moleculeapproved

Top

RelatedDiseases for VPS8_HTR3C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHTR3CC0004352Autistic Disorder1CTD_human