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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: 5648

FusionGeneSummary for CAV1_MCM9

check button Fusion gene summary
Fusion gene informationFusion gene name: CAV1_MCM9
Fusion gene ID: 5648
HgeneTgene
Gene symbol

CAV1

MCM9

Gene ID

857

254394

Gene namecaveolin 1minichromosome maintenance 9 homologous recombination repair factor
SynonymsBSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21C6orf61|MCMDC1|ODG4|dJ329L24.1|dJ329L24.3
Cytomap

7q31.2

6q22.31

Type of geneprotein-codingprotein-coding
Descriptioncaveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32DNA helicase MCM9DNA replication licensing factor MCM9mini-chromosome maintenance deficient domain-containing protein 1minichromosome maintenance complex component 9
Modification date2018052720180519
UniProtAcc

Q03135

Q9NXL9

Ensembl transtripts involved in fusion geneENST00000341049, ENST00000393470, 
ENST00000405348, ENST00000393468, 
ENST00000393467, 		ENST00000316316, 
ENST00000505485, ENST00000316068, 
Fusion gene scores* DoF score2 X 2 X 1=43 X 3 X 3=27
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CAV1 [Title/Abstract] AND MCM9 [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
HgeneCAV1

GO:0009617

response to bacterium

24625804

HgeneCAV1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

25893292

HgeneCAV1

GO:0031295

T cell costimulation

17287217

HgeneCAV1

GO:0031623

receptor internalization

25893292

HgeneCAV1

GO:0032091

negative regulation of protein binding

16890161

HgeneCAV1

GO:0032570

response to progesterone

12388746

HgeneCAV1

GO:0033137

negative regulation of peptidyl-serine phosphorylation

18081315

HgeneCAV1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

18081315

HgeneCAV1

GO:0043627

response to estrogen

12388746

HgeneCAV1

GO:0051480

regulation of cytosolic calcium ion concentration

19052258

HgeneCAV1

GO:0072584

caveolin-mediated endocytosis

19931615

HgeneCAV1

GO:1900027

regulation of ruffle assembly

24625804

HgeneCAV1

GO:2000535

regulation of entry of bacterium into host cell

24625804

TgeneMCM9

GO:0000724

double-strand break repair via homologous recombination

22771115

TgeneMCM9

GO:0006974

cellular response to DNA damage stimulus

22771115


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
ChiTaRS3.1BF196928CAV1chr7

116201048

-MCM9chr6

119134792

+
* 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
3UTR-3UTRENST00000341049ENST00000316316CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-intronENST00000341049ENST00000505485CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-intronENST00000341049ENST00000316068CAV1chr7

116201048

-MCM9chr6

119134792

+
intron-3UTRENST00000393470ENST00000316316CAV1chr7

116201048

-MCM9chr6

119134792

+
intron-intronENST00000393470ENST00000505485CAV1chr7

116201048

-MCM9chr6

119134792

+
intron-intronENST00000393470ENST00000316068CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-3UTRENST00000405348ENST00000316316CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-intronENST00000405348ENST00000505485CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-intronENST00000405348ENST00000316068CAV1chr7

116201048

-MCM9chr6

119134792

+
intron-3UTRENST00000393468ENST00000316316CAV1chr7

116201048

-MCM9chr6

119134792

+
intron-intronENST00000393468ENST00000505485CAV1chr7

116201048

-MCM9chr6

119134792

+
intron-intronENST00000393468ENST00000316068CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-3UTRENST00000393467ENST00000316316CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-intronENST00000393467ENST00000505485CAV1chr7

116201048

-MCM9chr6

119134792

+
3UTR-intronENST00000393467ENST00000316068CAV1chr7

116201048

-MCM9chr6

119134792

+

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FusionProtFeatures for CAV1_MCM9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAV1

Q03135

MCM9

Q9NXL9

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}. Component of the MCM8-MCM9 complex, a complex involvedin homologous recombination repair following DNA interstrandcross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream ofthe Fanconi anemia proteins BRCA2 and RAD51 and is required toprocess aberrant forks into homologous recombination substratesand to orchestrate homologous recombination with resection, forkstabilization and fork restart. {ECO:0000269|PubMed:22771115}.

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 CAV1_MCM9


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 CAV1_MCM9


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 CAV1_MCM9


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 CAV1_MCM9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAV1C1458155Mammary Neoplasms4CTD_human
HgeneCAV1C0004238Atrial Fibrillation2CTD_human
HgeneCAV1C0033578Prostatic Neoplasms2CTD_human
HgeneCAV1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneCAV1C0017612Glaucoma, Open-Angle1CTD_human
HgeneCAV1C0018800Cardiomegaly1CTD_human
HgeneCAV1C0020538Hypertensive disease1CTD_human
HgeneCAV1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCAV1C0027627Neoplasm Metastasis1CTD_human
HgeneCAV1C0036341Schizophrenia1PSYGENET
HgeneCAV1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneCAV1C0038356Stomach Neoplasms1CTD_human
HgeneCAV1C0043094Weight Gain1CTD_human
HgeneCAV1C0271694Familial partial lipodystrophy1CTD_human
HgeneCAV1C0919267ovarian neoplasm1CTD_human