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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: 11612

FusionGeneSummary for ENO1_COL4A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ENO1_COL4A2
Fusion gene ID: 11612
HgeneTgene
Gene symbol

ENO1

COL4A2

Gene ID

2023

1284

Gene nameenolase 1collagen type IV alpha 2 chain
SynonymsENO1L1|HEL-S-17|MPB1|NNE|PPHICH|POREN2
Cytomap

1p36.23

13q34

Type of geneprotein-codingprotein-coding
Descriptionalpha-enolasec-myc promoter-binding protein-12-phospho-D-glycerate hydro-lyaseMYC promoter-binding protein 1alpha enolase like 1enolase 1, (alpha)enolase-alphaepididymis secretory protein Li 17non-neural enolasephosphopyruvate hydrataseplasminogcollagen alpha-2(IV) chaincanstatin
Modification date2018052320180523
UniProtAcc

P06733

P08572

Ensembl transtripts involved in fusion geneENST00000234590, ENST00000360467, 
ENST00000462309, 
Fusion gene scores* DoF score14 X 15 X 7=14706 X 6 X 3=108
# samples 215
** MAII scorelog2(21/1470*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/108*10)=-1.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENO1 [Title/Abstract] AND COL4A2 [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
HgeneENO1

GO:0000122

negative regulation of transcription by RNA polymerase II

2005901

HgeneENO1

GO:0030308

negative regulation of cell growth

10082554

HgeneENO1

GO:0045892

negative regulation of transcription, DNA-templated

10082554

HgeneENO1

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

15459207

HgeneENO1

GO:2001171

positive regulation of ATP biosynthetic process

15459207

TgeneCOL4A2

GO:0016525

negative regulation of angiogenesis

10625665


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
ChiTaRS3.1AW362574ENO1chr1

8926485

+COL4A2chr13

111125307

-
* 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-3CDSENST00000234590ENST00000360467ENO1chr1

8926485

+COL4A2chr13

111125307

-
intron-intronENST00000234590ENST00000462309ENO1chr1

8926485

+COL4A2chr13

111125307

-

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FusionProtFeatures for ENO1_COL4A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ENO1

P06733

COL4A2

P08572

Type IV collagen is the major structural component ofglomerular basement membranes (GBM), forming a 'chicken-wire'meshwork together with laminins, proteoglycans andentactin/nidogen. Canstatin, a cleavage product corresponding to thecollagen alpha 2(IV) NC1 domain, possesses both anti-angiogenicand anti-tumor cell activity. It inhibits proliferation andmigration of endothelial cells, reduces mitochondrial membranepotential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity.Ligand for alphavbeta3 and alphavbeta5 integrins.

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 ENO1_COL4A2


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 ENO1_COL4A2


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 ENO1_COL4A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneENO1P06733DB01593ZincAlpha-enolasesmall moleculeapproved|investigational
HgeneENO1P06733DB11638ArtenimolAlpha-enolasesmall moleculeapproved|investigational

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RelatedDiseases for ENO1_COL4A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENO1C0001418Adenocarcinoma1CTD_human
HgeneENO1C0002395Alzheimer's Disease1CTD_human
HgeneENO1C0003873Rheumatoid Arthritis1CTD_human
HgeneENO1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneENO1C0007137Squamous cell carcinoma1CTD_human
HgeneENO1C0014859Esophageal Neoplasms1CTD_human
HgeneENO1C0021364Male infertility1CTD_human
HgeneENO1C0024667Animal Mammary Neoplasms1CTD_human
HgeneENO1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneENO1C0026640Mouth Neoplasms1CTD_human
HgeneENO1C0027626Neoplasm Invasiveness1CTD_human
HgeneENO1C0029408Degenerative polyarthritis1CTD_human
HgeneENO1C0029456Osteoporosis1CTD_human
HgeneENO1C0036341Schizophrenia1PSYGENET
HgeneENO1C0038356Stomach Neoplasms1CTD_human
HgeneENO1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneENO1C0520459Necrotizing Enterocolitis1CTD_human
HgeneENO1C0948089Acute Coronary Syndrome1CTD_human
HgeneENO1C1458155Mammary Neoplasms1CTD_human
HgeneENO1C2239176Liver carcinoma1CTD_human
HgeneENO1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCOL4A2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL4A2C0027726Nephrotic Syndrome1CTD_human
TgeneCOL4A2C0149925Small cell carcinoma of lung1CTD_human
TgeneCOL4A2C3280970PORENCEPHALY 21UNIPROT