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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: 4583

FusionGeneSummary for BVES_CIDEC

check button Fusion gene summary
Fusion gene informationFusion gene name: BVES_CIDEC
Fusion gene ID: 4583
HgeneTgene
Gene symbol

BVES

CIDEC

Gene ID

11149

63924

Gene nameblood vessel epicardial substancecell death inducing DFFA like effector c
SynonymsHBVES|LGMD2X|POP1|POPDC1CIDE-3|CIDE3|FPLD5|FSP27
Cytomap

6q21

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionblood vessel epicardial substancepopeye domain-containing protein 1cell death activator CIDE-3fat specific protein 27
Modification date2018052320180523
UniProtAcc

Q8NE79

Q96AQ7

Ensembl transtripts involved in fusion geneENST00000314641, ENST00000336775, 
ENST00000446408, 		ENST00000455015, 
ENST00000336832, ENST00000423850, 
ENST00000383817, ENST00000430427, 
ENST00000443115, 
Fusion gene scores* DoF score2 X 2 X 1=47 X 6 X 3=126
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BVES [Title/Abstract] AND CIDEC [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
HgeneBVES

GO:0090136

epithelial cell-cell adhesion

16188940

TgeneCIDEC

GO:0006915

apoptotic process

12429024

TgeneCIDEC

GO:0097194

execution phase of apoptosis

12429024


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
ChiTaRS3.1BC021072BVESchr6

105547328

+CIDECchr3

10028467

-
* 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-intronENST00000314641ENST00000455015BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000314641ENST00000336832BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000314641ENST00000423850BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000314641ENST00000383817BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000314641ENST00000430427BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000314641ENST00000443115BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000336775ENST00000455015BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000336775ENST00000336832BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000336775ENST00000423850BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000336775ENST00000383817BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000336775ENST00000430427BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000336775ENST00000443115BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000446408ENST00000455015BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000446408ENST00000336832BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000446408ENST00000423850BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000446408ENST00000383817BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000446408ENST00000430427BVESchr6

105547328

+CIDECchr3

10028467

-
intron-intronENST00000446408ENST00000443115BVESchr6

105547328

+CIDECchr3

10028467

-

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FusionProtFeatures for BVES_CIDEC


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

Q8NE79

CIDEC

Q96AQ7

Cell adhesion molecule involved in the establishmentand/or maintenance of cell integrity. Involved in the formationand regulation of the tight junction (TJ) paracellularpermeability barrier in epithelial cells (PubMed:16188940). Playsa role in VAMP3-mediated vesicular transport and recycling ofdifferent receptor molecules through its interaction with VAMP3.Plays a role in the regulation of cell shape and movement bymodulating the Rho-family GTPase activity through its interactionwith ARHGEF25/GEFT. Induces primordial adhesive contact andaggregation of epithelial cells in a Ca(2+)-independent manner.Also involved in striated muscle regeneration and repair and inthe regulation of cell spreading (By similarity). Important forthe maintenance of cardiac function. Plays a regulatory functionin heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression ofthe potassium channel KCNK2 and enhancing current density(PubMed:26642364). Is also a caveolae-associated protein importantfor the preservation of caveolae structural and functionalintegrity as well as for heart protection against ischemia injury.{ECO:0000250|UniProtKB:Q5PQZ7, ECO:0000250|UniProtKB:Q9ES83,ECO:0000269|PubMed:16188940, ECO:0000269|PubMed:26642364}. Binds to lipid droplets and regulates their enlargement,thereby restricting lipolysis and favoring storage. At focalcontact sites between lipid droplets, promotes directional netneutral lipid transfer from the smaller to larger lipid droplets.The transfer direction may be driven by the internal pressuredifference between the contacting lipid droplet pair. Its role inneutral lipid transfer and lipid droplet enlargement is activatedby the interaction with PLIN1. May act as a CEBPB coactivator inthe white adipose tissue to control the expression of a subset ofCEBPB downstream target genes, including SOCS1, SOCS3, TGFB1,TGFBR1, ID2 and XDH. When overexpressed in preadipocytes, inducesapoptosis or increases cell susceptibility to apoptosis induced byserum deprivation or TGFB treatment. As mature adipocytes, thatexpress high CIDEC levels, are quite resistant to apoptoticstimuli, the physiological significance of its role in apoptosisis unclear. May play a role in the modulation of the response toosmotic stress by preventing NFAT5 to translocate into the nucleusand activate its target genes expression.{ECO:0000269|PubMed:12429024, ECO:0000269|PubMed:18334488,ECO:0000269|PubMed:19843876, ECO:0000269|PubMed:20049731,ECO:0000269|PubMed:23399566}.

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 BVES_CIDEC


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 BVES_CIDEC


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 BVES_CIDEC


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 BVES_CIDEC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBVESC4225199MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X1ORPHANET;UNIPROT
TgeneCIDECC0162820Dermatitis, Allergic Contact1CTD_human