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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: 6227

FusionGeneSummary for CD63_VPS35

check button Fusion gene summary
Fusion gene informationFusion gene name: CD63_VPS35
Fusion gene ID: 6227
HgeneTgene
Gene symbol

CD63

VPS35

Gene ID

967

55737

Gene nameCD63 moleculeVPS35, retromer complex component
SynonymsLAMP-3|ME491|MLA1|OMA81H|TSPAN30MEM3|PARK17
Cytomap

12q13.2

16q11.2

Type of geneprotein-codingprotein-coding
DescriptionCD63 antigenCD63 antigen (melanoma 1 antigen)granulophysinlysosomal-associated membrane protein 3lysosome-associated membrane glycoprotein 3melanoma-associated antigen ME491melanoma-associated antigen MLA1ocular melanoma-associated antigentetraspavacuolar protein sorting-associated protein 35hVPS35maternal-embryonic 3vacuolar protein sorting 35 homolog
Modification date2018052720180523
UniProtAcc

P08962

Q96QK1

Ensembl transtripts involved in fusion geneENST00000548898, ENST00000552067, 
ENST00000420846, ENST00000548160, 
ENST00000546939, ENST00000552692, 
ENST00000549117, ENST00000257857, 
ENST00000552754, ENST00000550776, 
ENST00000299138, ENST00000568642, 
Fusion gene scores* DoF score14 X 12 X 8=13445 X 6 X 2=60
# samples 156
** MAII scorelog2(15/1344*10)=-3.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: CD63 [Title/Abstract] AND VPS35 [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
HgeneCD63

GO:0034613

cellular protein localization

15647390

HgeneCD63

GO:1901379

regulation of potassium ion transmembrane transport

15647390

TgeneVPS35

GO:0010628

positive regulation of gene expression

26618722

TgeneVPS35

GO:0032268

regulation of cellular protein metabolic process

26618722

TgeneVPS35

GO:0045056

transcytosis

15247922

TgeneVPS35

GO:0060161

positive regulation of dopamine receptor signaling pathway

27460146

TgeneVPS35

GO:0099639

neurotransmitter receptor transport, endosome to plasma membrane

27460146


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
ChiTaRS3.1AA083694CD63chr12

56119351

+VPS35chr16

46695709

-
* 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
intron-3CDSENST00000548898ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000548898ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000552067ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000552067ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000420846ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000420846ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000548160ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000548160ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000546939ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000546939ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000552692ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000552692ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000549117ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000549117ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000257857ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000257857ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000552754ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000552754ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-
intron-3CDSENST00000550776ENST00000299138CD63chr12

56119351

+VPS35chr16

46695709

-
intron-intronENST00000550776ENST00000568642CD63chr12

56119351

+VPS35chr16

46695709

-

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FusionProtFeatures for CD63_VPS35


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD63

P08962

VPS35

Q96QK1

Functions as cell surface receptor for TIMP1 and plays arole in the activation of cellular signaling cascades. Plays arole in the activation of ITGB1 and integrin signaling, leading tothe activation of AKT, FAK/PTK2 and MAP kinases. Promotes cellsurvival, reorganization of the actin cytoskeleton, cell adhesion,spreading and migration, via its role in the activation of AKT andFAK/PTK2. Plays a role in VEGFA signaling via its role inregulating the internalization of KDR/VEGFR2. Plays a role inintracellular vesicular transport processes, and is required fornormal trafficking of the PMEL luminal domain that is essentialfor the development and maturation of melanocytes. Plays a role inthe adhesion of leukocytes onto endothelial cells via its role inthe regulation of SELP trafficking. May play a role in mast celldegranulation in response to Ms4a2/FceRI stimulation, but not inmast cell degranulation in response to other stimuli.{ECO:0000269|PubMed:16917503, ECO:0000269|PubMed:21803846,ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:23632027,ECO:0000269|PubMed:24635319}.

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 CD63_VPS35


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 CD63_VPS35


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


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 CD63_VPS35


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 CD63_VPS35


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD63C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCD63C0023904Liver Neoplasms, Experimental1CTD_human
TgeneVPS35C0030567Parkinson Disease1CTD_human
TgeneVPS35C0036341Schizophrenia1CTD_human
TgeneVPS35C3280133PARKINSON DISEASE 171UNIPROT