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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:COL5A2-VIM (FusionGDB2 ID:HG1290TG7431)

Fusion Gene Summary for COL5A2-VIM

check button Fusion gene summary
Fusion gene informationFusion gene name: COL5A2-VIM
Fusion gene ID: hg1290tg7431
HgeneTgene
Gene symbol

COL5A2

VIM

Gene ID

1290

7431

Gene namecollagen type V alpha 2 chainvimentin
SynonymsEDSC|EDSCL2-
Cytomap('COL5A2')('VIM')

2q32.2

10p13

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-2(V) chainAB collagencollagen, fetal membrane, A polypeptidetype V preprocollagen alpha 2 chainvimentinepididymis secretory sperm binding protein
Modification date2020031320200327
UniProtAcc

P05997

.
Ensembl transtripts involved in fusion geneENST00000374866, 
Fusion gene scores* DoF score12 X 11 X 5=66042 X 25 X 11=11550
# samples 1241
** MAII scorelog2(12/660*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(41/11550*10)=-4.81612513168534
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL5A2 [Title/Abstract] AND VIM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL5A2(189897473)-VIM(17277284), # 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
HgeneCOL5A2

GO:1903225

negative regulation of endodermal cell differentiation

23154389



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 COL5A2-VIM

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 COL5A2-VIM


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 COL5A2-VIM


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/:189897473/:17277284)
- 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
COL5A2

P05997

.
FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (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 COL5A2-VIM


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 COL5A2-VIM


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 COL5A2-VIM


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 COL5A2-VIM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL5A2C4538407EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 24GENOMICS_ENGLAND;UNIPROT
HgeneCOL5A2C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 13GENOMICS_ENGLAND
HgeneCOL5A2C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified2ORPHANET
HgeneCOL5A2C3151201MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME2GENOMICS_ENGLAND
HgeneCOL5A2C0000786Spontaneous abortion1CTD_human
HgeneCOL5A2C0000822Abortion, Tubal1CTD_human
HgeneCOL5A2C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
HgeneCOL5A2C0023890Liver Cirrhosis1CTD_human
HgeneCOL5A2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL5A2C0239946Fibrosis, Liver1CTD_human
HgeneCOL5A2C0268335Ehlers-Danlos syndrome type 11GENOMICS_ENGLAND
HgeneCOL5A2C0268336Ehlers-Danlos syndrome type 21GENOMICS_ENGLAND
HgeneCOL5A2C1458140Bleeding tendency1GENOMICS_ENGLAND
HgeneCOL5A2C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
HgeneCOL5A2C3830362Early Pregnancy Loss1CTD_human
HgeneCOL5A2C4225429Ehlers-Danlos syndrome classic type1GENOMICS_ENGLAND
HgeneCOL5A2C4552766Miscarriage1CTD_human
TgeneC0006142Malignant neoplasm of breast4CTD_human
TgeneC0678222Breast Carcinoma4CTD_human
TgeneC1257931Mammary Neoplasms, Human4CTD_human
TgeneC1458155Mammary Neoplasms4CTD_human
TgeneC3805411CATARACT 304GENOMICS_ENGLAND;UNIPROT
TgeneC4704874Mammary Carcinoma, Human4CTD_human
TgeneC0023890Liver Cirrhosis2CTD_human
TgeneC0029408Degenerative polyarthritis2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0086743Osteoarthrosis Deformans2CTD_human
TgeneC0239946Fibrosis, Liver2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0007140Carcinosarcoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027720Nephrosis1CTD_human
TgeneC0031149Peritoneal Neoplasms1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0035309Retinal Diseases1CTD_human
TgeneC0039101synovial sarcoma1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0085084Motor Neuron Disease1CTD_human
TgeneC0086543Cataract1CTD_human
TgeneC0154681Anterior Horn Cell Disease1CTD_human
TgeneC0154682Lateral Sclerosis1CTD_human
TgeneC0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneC0270763Familial Motor Neuron Disease1CTD_human
TgeneC0270764Motor Neuron Disease, Lower1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0346990Carcinomatosis of peritoneal cavity1CTD_human
TgeneC0521659Motor Neuron Disease, Upper1CTD_human
TgeneC0524524Pseudoaphakia1CTD_human
TgeneC0524851Neurodegenerative Disorders1CTD_human
TgeneC0543858Motor Neuron Disease, Secondary1CTD_human
TgeneC0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0948089Acute Coronary Syndrome1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1510497Lens Opacities1CTD_human
TgeneC1833118Cataract, Pulverulent1ORPHANET
TgeneC1852438CATARACT, COPPOCK-LIKE1ORPHANET
TgeneC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human