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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CPVL-CD63 (FusionGDB2 ID:19242)

Fusion Gene Summary for CPVL-CD63

check button Fusion gene summary
Fusion gene informationFusion gene name: CPVL-CD63
Fusion gene ID: 19242
HgeneTgene
Gene symbol

CPVL

CD63

Gene ID

54504

967

Gene namecarboxypeptidase vitellogenic likeCD63 molecule
SynonymsHVLPLAMP-3|ME491|MLA1|OMA81H|TSPAN30
Cytomap

7p14.3

12q13.2

Type of geneprotein-codingprotein-coding
Descriptionprobable serine carboxypeptidase CPVLCP-Mac carboxypeptidaseVCP-like proteincarboxypeptidase WUGvitellogenic carboxypeptidase-like proteinCD63 antigenCD63 antigen (melanoma 1 antigen)granulophysinlysosomal-associated membrane protein 3lysosome-associated membrane glycoprotein 3melanoma-associated antigen ME491melanoma-associated antigen MLA1ocular melanoma-associated antigentetraspa
Modification date2020031320200327
UniProtAcc

Q9H3G5

P08962

Ensembl transtripts involved in fusion geneENST00000265394, ENST00000396276, 
ENST00000409850, ENST00000488891, 
ENST00000548898, ENST00000552067, 
ENST00000257857, ENST00000420846, 
ENST00000546939, ENST00000548160, 
ENST00000549117, ENST00000550776, 
ENST00000552692, ENST00000552754, 
Fusion gene scores* DoF score2 X 2 X 1=49 X 8 X 6=432
# samples 29
** MAII scorelog2(2/4*10)=2.32192809488736log2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPVL [Title/Abstract] AND CD63 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCPVL(29131821)-CD63(56119238), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneCD63

GO:0034613

cellular protein localization

15647390

TgeneCD63

GO:1901379

regulation of potassium ion transmembrane transport

15647390


check buttonFusion gene breakpoints across CPVL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CD63 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAA527098CPVLchr7

29131821

+CD63chr12

56119238

+


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Fusion Gene ORF analysis for CPVL-CD63

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-3UTRENST00000265394ENST00000548898CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000265394ENST00000552067CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000396276ENST00000548898CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000396276ENST00000552067CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000409850ENST00000548898CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000409850ENST00000552067CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000488891ENST00000548898CPVLchr7

29131821

+CD63chr12

56119238

+
intron-3UTRENST00000488891ENST00000552067CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000257857CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000420846CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000546939CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000548160CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000549117CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000550776CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000552692CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000265394ENST00000552754CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000257857CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000420846CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000546939CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000548160CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000549117CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000550776CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000552692CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000396276ENST00000552754CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000257857CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000420846CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000546939CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000548160CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000549117CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000550776CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000552692CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000409850ENST00000552754CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000257857CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000420846CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000546939CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000548160CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000549117CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000550776CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000552692CPVLchr7

29131821

+CD63chr12

56119238

+
intron-intronENST00000488891ENST00000552754CPVLchr7

29131821

+CD63chr12

56119238

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CPVL-CD63


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CPVL-CD63


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:29131821/:56119238)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9H3G5

CD63

P08962

FUNCTION: May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.FUNCTION: Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast 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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Fusion Gene Sequence for CPVL-CD63


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CPVL-CD63


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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Related Drugs for CPVL-CD63


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CPVL-CD63


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