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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:COL1A2-DMD (FusionGDB2 ID:HG1278TG1756)

Fusion Gene Summary for COL1A2-DMD

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A2-DMD
Fusion gene ID: hg1278tg1756
HgeneTgene
Gene symbol

COL1A2

DMD

Gene ID

1278

1756

Gene namecollagen type I alpha 2 chaindystrophin
SynonymsEDSARTH2|EDSCV|OI4BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85
Cytomap('COL1A2')('DMD')

7q21.3

Xp21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2epididymis secretory sperm bdystrophin
Modification date2020032220200329
UniProtAcc

P08123

P11532

Ensembl transtripts involved in fusion geneENST00000297268, 
Fusion gene scores* DoF score47 X 49 X 10=2303035 X 39 X 12=16380
# samples 5841
** MAII scorelog2(58/23030*10)=-5.31131770066527
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(41/16380*10)=-5.32016763702292
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL1A2 [Title/Abstract] AND DMD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL1A2(94059747)-DMD(32203333), # 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
HgeneCOL1A2

GO:0007179

transforming growth factor beta receptor signaling pathway

17217948

HgeneCOL1A2

GO:0007266

Rho protein signal transduction

17217948

TgeneDMD

GO:0043043

peptide biosynthetic process

16000376



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABI493192COL1A2chr7

94059747

+DMDchrX

32203333

-


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Fusion Gene ORF analysis for COL1A2-DMD

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-intronENST00000297268ENST00000288447COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000343523COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000357033COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000359836COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000361471COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000378677COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000378680COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000378702COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000378707COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000378723COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000445312COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000474231COL1A2chr7

94059747

+DMDchrX

32203333

-
3UTR-intronENST00000297268ENST00000541735COL1A2chr7

94059747

+DMDchrX

32203333

-

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 COL1A2-DMD


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 COL1A2-DMD


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/:94059747/:32203333)
- 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
COL1A2

P08123

DMD

P11532

FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}.

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 COL1A2-DMD


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 COL1A2-DMD


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 COL1A2-DMD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDMDP11532DB15593GolodirsenInducerBiotechApproved

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Related Diseases for COL1A2-DMD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A2C0268358Osteogenesis imperfecta, dominant perinatal lethal16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A2C0268362Osteogenesis imperfecta type III (disorder)16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A2C0268363Osteogenesis imperfecta type IV (disorder)11GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A2C0023931Lobstein Disease6ORPHANET;UNIPROT
HgeneCOL1A2C1857034Ehlers-Danlos syndrome, cardiac valvular form3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCOL1A2C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
HgeneCOL1A2C0000786Spontaneous abortion1CTD_human
HgeneCOL1A2C0000822Abortion, Tubal1CTD_human
HgeneCOL1A2C0016059Fibrosis1CTD_human
HgeneCOL1A2C0018824Heart valve disease1CTD_human
HgeneCOL1A2C0023890Liver Cirrhosis1CTD_human
HgeneCOL1A2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL1A2C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A2C0029408Degenerative polyarthritis1CTD_human
HgeneCOL1A2C0036421Systemic Scleroderma1CTD_human
HgeneCOL1A2C0086743Osteoarthrosis Deformans1CTD_human
HgeneCOL1A2C0239946Fibrosis, Liver1CTD_human
HgeneCOL1A2C1623038Cirrhosis1CTD_human
HgeneCOL1A2C3830362Early Pregnancy Loss1CTD_human
HgeneCOL1A2C4303789Ehlers-Danlos syndrome cardiac valvular type1GENOMICS_ENGLAND
HgeneCOL1A2C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 11GENOMICS_ENGLAND
HgeneCOL1A2C4552766Miscarriage1CTD_human
TgeneC0013264Muscular Dystrophy, Duchenne18CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0917713Becker Muscular Dystrophy13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3542021Duchenne and Becker Muscular Dystrophy11CTD_human
TgeneC0026850Muscular Dystrophy4CTD_human
TgeneC3668940Dmd-Associated Dilated Cardiomyopathy4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0033141Cardiomyopathies, Primary3CTD_human
TgeneC0036529Myocardial Diseases, Secondary3CTD_human
TgeneC0878544Cardiomyopathies3CTD_human;GENOMICS_ENGLAND
TgeneC0006663Calcinosis1CTD_human
TgeneC0007193Cardiomyopathy, Dilated1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0023269leiomyosarcoma1CTD_human
TgeneC0026851Muscular Dystrophy, Animal1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0032460Polycystic Ovary Syndrome1CTD_human
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0151786Muscle Weakness1CTD_human
TgeneC0205815Leiomyosarcoma, Epithelioid1CTD_human
TgeneC0205816Leiomyosarcoma, Myxoid1CTD_human
TgeneC0206656Embryonal Rhabdomyosarcoma1CTD_human
TgeneC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneC0242973Ventricular Dysfunction1CTD_human
TgeneC0263628Tumoral calcinosis1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0340427Familial dilated cardiomyopathy1ORPHANET
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0521174Microcalcification1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC1136382Sclerocystic Ovaries1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1449563Cardiomyopathy, Familial Idiopathic1CTD_human
TgeneC2931498Mental Retardation, X-Linked 11ORPHANET
TgeneC3179349Gastrointestinal Stromal Sarcoma1CTD_human