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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:CAV1-MCM9 (FusionGDB2 ID:HG857TG254394)

Fusion Gene Summary for CAV1-MCM9

check button Fusion gene summary
Fusion gene informationFusion gene name: CAV1-MCM9
Fusion gene ID: hg857tg254394
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('CAV1')('MCM9')

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 date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000341049, ENST00000393467, 
ENST00000405348, ENST00000393468, 
ENST00000393470, 
Fusion gene scores* DoF score7 X 7 X 2=985 X 5 X 4=100
# samples 75
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointCAV1(116201048)-MCM9(119134792), # 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
HgeneCAV1

GO:0009617

response to bacterium

24625804

HgeneCAV1

GO:0010875

positive regulation of cholesterol efflux

24576892

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
* 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


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Fusion Gene ORF analysis for CAV1-MCM9

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

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 CAV1-MCM9


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)


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Fusion Protein Features for CAV1-MCM9


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/:116201048/:119134792)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 CAV1-MCM9


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 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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Related Drugs for CAV1-MCM9


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 CAV1-MCM9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAV1C0006142Malignant neoplasm of breast4CTD_human;UNIPROT
HgeneCAV1C0678222Breast Carcinoma4CTD_human
HgeneCAV1C1257931Mammary Neoplasms, Human4CTD_human
HgeneCAV1C1458155Mammary Neoplasms4CTD_human
HgeneCAV1C4704874Mammary Carcinoma, Human4CTD_human
HgeneCAV1C0004238Atrial Fibrillation3CTD_human
HgeneCAV1C0235480Paroxysmal atrial fibrillation3CTD_human
HgeneCAV1C2585653Persistent atrial fibrillation3CTD_human
HgeneCAV1C3468561familial atrial fibrillation3CTD_human
HgeneCAV1C0033578Prostatic Neoplasms2CTD_human
HgeneCAV1C0340543Familial primary pulmonary hypertension2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCAV1C0376358Malignant neoplasm of prostate2CTD_human
HgeneCAV1C2675861Lipodystrophy, Congenital Generalized, Type 32CTD_human;GENOMICS_ENGLAND
HgeneCAV1C3807567PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME2CTD_human;GENOMICS_ENGLAND
HgeneCAV1C0002152Alloxan Diabetes1CTD_human
HgeneCAV1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneCAV1C0011859Lipoatrophic Diabetes Mellitus1ORPHANET
HgeneCAV1C0014518Toxic Epidermal Necrolysis1CTD_human
HgeneCAV1C0017612Glaucoma, Open-Angle1CTD_human
HgeneCAV1C0018800Cardiomegaly1CTD_human
HgeneCAV1C0020538Hypertensive disease1CTD_human
HgeneCAV1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCAV1C0024121Lung Neoplasms1CTD_human
HgeneCAV1C0024623Malignant neoplasm of stomach1CTD_human
HgeneCAV1C0027627Neoplasm Metastasis1CTD_human
HgeneCAV1C0036341Schizophrenia1PSYGENET
HgeneCAV1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneCAV1C0038356Stomach Neoplasms1CTD_human
HgeneCAV1C0038433Streptozotocin Diabetes1CTD_human
HgeneCAV1C0043094Weight Gain1CTD_human
HgeneCAV1C0206138CREST Syndrome1ORPHANET
HgeneCAV1C0221032Familial generalized lipodystrophy1ORPHANET
HgeneCAV1C0242379Malignant neoplasm of lung1CTD_human
HgeneCAV1C0271148Secondary Open Angle Glaucoma1CTD_human
HgeneCAV1C0271694Familial partial lipodystrophy1CTD_human
HgeneCAV1C0339573Glaucoma, Primary Open Angle1CTD_human
HgeneCAV1C0596263Carcinogenesis1CTD_human
HgeneCAV1C0748540Scleroderma, Limited1ORPHANET
HgeneCAV1C0919267ovarian neoplasm1CTD_human
HgeneCAV1C1140680Malignant neoplasm of ovary1CTD_human
HgeneCAV1C11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND
HgeneCAV1C1258104Diffuse Scleroderma1ORPHANET
HgeneCAV1C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneCAV1C1383860Cardiac Hypertrophy1CTD_human
HgeneCAV1C1701939Familial pulmonary arterial hypertension1ORPHANET
HgeneCAV1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCAV1C1720859Familial Partial Lipodystrophy, Type 11CTD_human
HgeneCAV1C1720860Familial Partial Lipodystrophy, Type 21CTD_human
HgeneCAV1C1720861Familial Partial Lipodystrophy, Type 31CTD_human
HgeneCAV1C2973725Pulmonary arterial hypertension1GENOMICS_ENGLAND
HgeneCAV1C3203102Idiopathic pulmonary arterial hypertension1CTD_human;GENOMICS_ENGLAND
HgeneCAV1C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneCAV1C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
HgeneCAV1C3809192PULMONARY HYPERTENSION, PRIMARY, 31GENOMICS_ENGLAND
TgeneC4015409OVARIAN DYSGENESIS 42CTD_human;GENOMICS_ENGLAND;ORPHANET