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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: 6949

FusionGeneSummary for CHCHD4_CAV1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHCHD4_CAV1
Fusion gene ID: 6949
HgeneTgene
Gene symbol

CHCHD4

CAV1

Gene ID

131474

857

Gene namecoiled-coil-helix-coiled-coil-helix domain containing 4caveolin 1
SynonymsMIA40|TIMM40BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21
Cytomap

3p25.1

7q31.2

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial intermembrane space import and assembly protein 40coiled-coil-helix-coiled-coil-helix domain-containing protein 4translocase of inner mitochondrial membrane 40 homologcaveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32
Modification date2018051920180527
UniProtAcc

Q8N4Q1

Q03135

Ensembl transtripts involved in fusion geneENST00000295767, ENST00000396914, 
ENST00000341049, ENST00000393470, 
ENST00000405348, ENST00000393468, 
ENST00000393467, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 4 X 6=144
# samples 28
** MAII scorelog2(2/4*10)=2.32192809488736log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHCHD4 [Title/Abstract] AND CAV1 [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
TgeneCAV1

GO:0009617

response to bacterium

24625804

TgeneCAV1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

25893292

TgeneCAV1

GO:0031295

T cell costimulation

17287217

TgeneCAV1

GO:0031623

receptor internalization

25893292

TgeneCAV1

GO:0032091

negative regulation of protein binding

16890161

TgeneCAV1

GO:0032570

response to progesterone

12388746

TgeneCAV1

GO:0033137

negative regulation of peptidyl-serine phosphorylation

18081315

TgeneCAV1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

18081315

TgeneCAV1

GO:0043627

response to estrogen

12388746

TgeneCAV1

GO:0051480

regulation of cytosolic calcium ion concentration

19052258

TgeneCAV1

GO:0072584

caveolin-mediated endocytosis

19931615

TgeneCAV1

GO:1900027

regulation of ruffle assembly

24625804

TgeneCAV1

GO:2000535

regulation of entry of bacterium into host cell

24625804


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
ChiTaRS3.1BF476043CHCHD4chr3

14153716

+CAV1chr7

116200417

-
* 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-3UTRENST00000295767ENST00000341049CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-intronENST00000295767ENST00000393470CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-3UTRENST00000295767ENST00000405348CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-intronENST00000295767ENST00000393468CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-3UTRENST00000295767ENST00000393467CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-3UTRENST00000396914ENST00000341049CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-intronENST00000396914ENST00000393470CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-3UTRENST00000396914ENST00000405348CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-intronENST00000396914ENST00000393468CHCHD4chr3

14153716

+CAV1chr7

116200417

-
intron-3UTRENST00000396914ENST00000393467CHCHD4chr3

14153716

+CAV1chr7

116200417

-

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FusionProtFeatures for CHCHD4_CAV1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHCHD4

Q8N4Q1

CAV1

Q03135

Functions as chaperone and catalyzes the formation ofdisulfide bonds in substrate proteins, such as COX17, COX19 andMICU1 (PubMed:16185709, PubMed:26387864, PubMed:19182799,PubMed:21059946, PubMed:23186364, PubMed:23676665). Required forthe import and folding of small cysteine-containing proteins(small Tim) in the mitochondrial intermembrane space (IMS).Precursor proteins to be imported into the IMS are translocated intheir reduced form into the mitochondria. The oxidized form ofCHCHD4/MIA40 forms a transient intermolecular disulfide bridgewith the reduced precursor protein, resulting in oxidation of theprecursor protein that now contains an intramolecular disulfidebond and is able to undergo folding in the IMS (PubMed:16185709,PubMed:19182799, PubMed:21059946, PubMed:23676665). ReducedCHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relaysystem (PubMed:23186364). Mediates formation of disulfide bond inMICU1 in the IMS, promoting formation of the MICU1-MICU2heterodimer that regulates mitochondrial calcium uptake(PubMed:26387864). {ECO:0000269|PubMed:16185709,ECO:0000269|PubMed:19182799, ECO:0000269|PubMed:21059946,ECO:0000269|PubMed:23186364, ECO:0000269|PubMed:23676665,ECO:0000269|PubMed:26387864}. May act as a scaffolding protein within caveolarmembranes. Interacts directly with G-protein alpha subunits andcan functionally regulate their activity (By similarity). Involvedin the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cellproliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and mayregulate CTNNB1-mediated signaling through the Wnt pathway.Negatively regulates TGFB1-mediated activation of SMAD2/3 bymediating the internalization of TGFBR1 from membrane raftsleading to its subsequent degradation (PubMed:25893292). Mediatesthe recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae(PubMed:19262564). {ECO:0000250|UniProtKB:P49817,ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217,ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25893292}.

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 CHCHD4_CAV1


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 CHCHD4_CAV1


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 CHCHD4_CAV1


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 CHCHD4_CAV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCAV1C1458155Mammary Neoplasms4CTD_human
TgeneCAV1C0004238Atrial Fibrillation2CTD_human
TgeneCAV1C0033578Prostatic Neoplasms2CTD_human
TgeneCAV1C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneCAV1C0017612Glaucoma, Open-Angle1CTD_human
TgeneCAV1C0018800Cardiomegaly1CTD_human
TgeneCAV1C0020538Hypertensive disease1CTD_human
TgeneCAV1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCAV1C0027627Neoplasm Metastasis1CTD_human
TgeneCAV1C0036341Schizophrenia1PSYGENET
TgeneCAV1C0038325Stevens-Johnson Syndrome1CTD_human
TgeneCAV1C0038356Stomach Neoplasms1CTD_human
TgeneCAV1C0043094Weight Gain1CTD_human
TgeneCAV1C0271694Familial partial lipodystrophy1CTD_human
TgeneCAV1C0919267ovarian neoplasm1CTD_human