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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: 7903

FusionGeneSummary for COL1A2_TCF4

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A2_TCF4
Fusion gene ID: 7903
HgeneTgene
Gene symbol

COL1A2

TCF4

Gene ID

1278

6934

Gene namecollagen type I alpha 2 chaintranscription factor 7 like 2
SynonymsEDSARTH2|EDSCV|OI4TCF-4|TCF4
Cytomap

7q21.3

10q25.2-q25.3

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 2type I procollagentranscription factor 7-like 2HMG box transcription factor 4T-cell factor 4T-cell-specific transcription factor 4hTCF-4transcription factor 7-like 2 (T-cell specific, HMG-box)
Modification date2018052720180527
UniProtAcc

P08123

P15884

Ensembl transtripts involved in fusion geneENST00000297268, ENST00000354452, 
ENST00000356073, ENST00000568673, 
ENST00000457482, ENST00000543082, 
ENST00000540999, ENST00000537578, 
ENST00000564999, ENST00000568740, 
ENST00000537856, ENST00000544241, 
ENST00000561992, ENST00000561831, 
ENST00000565018, ENST00000570287, 
ENST00000564228, ENST00000567880, 
ENST00000566286, ENST00000566279, 
ENST00000564403, ENST00000398339, 
ENST00000570177, ENST00000563760, 
Fusion gene scores* DoF score15 X 20 X 5=15005 X 5 X 1=25
# samples 215
** MAII scorelog2(21/1500*10)=-2.83650126771712
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/25*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: COL1A2 [Title/Abstract] AND TCF4 [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
HgeneCOL1A2

GO:0007179

transforming growth factor beta receptor signaling pathway

17217948

HgeneCOL1A2

GO:0007266

Rho protein signal transduction

17217948

TgeneTCF4

GO:0000122

negative regulation of transcription by RNA polymerase II

12799378

TgeneTCF4

GO:0006357

regulation of transcription by RNA polymerase II

9727977

TgeneTCF4

GO:0032092

positive regulation of protein binding

12799378

TgeneTCF4

GO:0032350

regulation of hormone metabolic process

15525634

TgeneTCF4

GO:0042593

glucose homeostasis

15525634

TgeneTCF4

GO:0043433

negative regulation of DNA binding transcription factor activity

12799378

TgeneTCF4

GO:0045444

fat cell differentiation

10937998

TgeneTCF4

GO:0045892

negative regulation of transcription, DNA-templated

12799378|15525634

TgeneTCF4

GO:0045944

positive regulation of transcription by RNA polymerase II

9065401|19168596

TgeneTCF4

GO:0048625

myoblast fate commitment

10937998


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
ChiTaRS3.1AI190855COL1A2chr7

94060127

-TCF4chr18

52894388

+
* 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-3UTRENST00000297268ENST00000354452COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-3UTRENST00000297268ENST00000356073COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000568673COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000457482COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000543082COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000540999COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000537578COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000564999COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000568740COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000537856COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000544241COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000561992COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000561831COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000565018COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000570287COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000564228COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000567880COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000566286COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000566279COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000564403COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000398339COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000570177COL1A2chr7

94060127

-TCF4chr18

52894388

+
3UTR-intronENST00000297268ENST00000563760COL1A2chr7

94060127

-TCF4chr18

52894388

+

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FusionProtFeatures for COL1A2_TCF4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL1A2

P08123

TCF4

P15884


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 COL1A2_TCF4


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 COL1A2_TCF4


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 COL1A2_TCF4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL1A2P08123DB00048Collagenase clostridium histolyticumCollagen alpha-2(I) chainbiotechapproved|investigational

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RelatedDiseases for COL1A2_TCF4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A2C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;ORPHANET;UNIPROT
HgeneCOL1A2C0268358Osteogenesis imperfecta, dominant perinatal lethal14CTD_human;ORPHANET;UNIPROT
HgeneCOL1A2C0268363Osteogenesis imperfecta type IV (disorder)11CTD_human;ORPHANET;UNIPROT
HgeneCOL1A2C0023931Lobstein's Disease6ORPHANET;UNIPROT
HgeneCOL1A2C0000786Spontaneous abortion1CTD_human
HgeneCOL1A2C0016059Fibrosis1CTD_human
HgeneCOL1A2C0018824Heart valve disease1CTD_human
HgeneCOL1A2C0023890Liver Cirrhosis1CTD_human
HgeneCOL1A2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL1A2C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A2C0029408Degenerative polyarthritis1CTD_human
HgeneCOL1A2C0036421Systemic Scleroderma1CTD_human
HgeneCOL1A2C1857034Ehlers-Danlos syndrome, cardiac valvular form1CTD_human;ORPHANET
TgeneTCF4C0005586Bipolar Disorder5PSYGENET
TgeneTCF4C0036341Schizophrenia4PSYGENET
TgeneTCF4C1970431PITT-HOPKINS SYNDROME4CTD_human;ORPHANET;UNIPROT
TgeneTCF4C0018799Heart Diseases1CTD_human
TgeneTCF4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneTCF4C0023903Liver neoplasms1CTD_human
TgeneTCF4C0025958Microcephaly1CTD_human
TgeneTCF4C0031117Peripheral Neuropathy1CTD_human
TgeneTCF4C0033975Psychotic Disorders1PSYGENET
TgeneTCF4C0036572Seizures1CTD_human;HPO
TgeneTCF4C0349204Nonorganic psychosis1PSYGENET
TgeneTCF4C0376634Craniofacial Abnormalities1CTD_human
TgeneTCF4C1456784Paranoia1PSYGENET