Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:TGFA-TGFA (FusionGDB2 ID:HG7039TG7039)

Fusion Gene Summary for TGFA-TGFA

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFA-TGFA
Fusion gene ID: hg7039tg7039
HgeneTgene
Gene symbol

TGFA

TGFA

Gene ID

7039

7039

Gene nametransforming growth factor alphatransforming growth factor alpha
SynonymsTFGATFGA
Cytomap('TGFA')('TGFA')

2p13.3

2p13.3

Type of geneprotein-codingprotein-coding
Descriptionprotransforming growth factor alphaTGF-alphaprotransforming growth factor alphaTGF-alpha
Modification date2020032720200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000295400, ENST00000418333, 
ENST00000444975, ENST00000445399, 
ENST00000450929, ENST00000460808, 
ENST00000295400, ENST00000418333, 
ENST00000444975, ENST00000445399, 
ENST00000450929, ENST00000460808, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 3 X 3=36
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TGFA [Title/Abstract] AND TGFA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTGFA(70674639)-TGFA(70674681), # 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
HgeneTGFA

GO:0000187

activation of MAPK activity

11278323

HgeneTGFA

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

11278323

HgeneTGFA

GO:0045840

positive regulation of mitotic nuclear division

11278323

HgeneTGFA

GO:0050679

positive regulation of epithelial cell proliferation

11278323

TgeneTGFA

GO:0000187

activation of MAPK activity

11278323

TgeneTGFA

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

11278323

TgeneTGFA

GO:0045840

positive regulation of mitotic nuclear division

11278323

TgeneTGFA

GO:0050679

positive regulation of epithelial cell proliferation

11278323



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/AAW262052TGFAchr2

70674639

+TGFAchr2

70674681

-


Top

Fusion Gene ORF analysis for TGFA-TGFA

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-3UTRENST00000295400ENST00000295400TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-3UTRENST00000418333ENST00000295400TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-3UTRENST00000444975ENST00000295400TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-3UTRENST00000445399ENST00000295400TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-3UTRENST00000450929ENST00000295400TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-3UTRENST00000460808ENST00000295400TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000295400ENST00000418333TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000295400ENST00000444975TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000295400ENST00000445399TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000295400ENST00000450929TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000295400ENST00000460808TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000418333ENST00000418333TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000418333ENST00000444975TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000418333ENST00000445399TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000418333ENST00000450929TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000418333ENST00000460808TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000444975ENST00000418333TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000444975ENST00000444975TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000444975ENST00000445399TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000444975ENST00000450929TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000444975ENST00000460808TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000445399ENST00000418333TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000445399ENST00000444975TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000445399ENST00000445399TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000445399ENST00000450929TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000445399ENST00000460808TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000450929ENST00000418333TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000450929ENST00000444975TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000450929ENST00000445399TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000450929ENST00000450929TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000450929ENST00000460808TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000460808ENST00000418333TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000460808ENST00000444975TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000460808ENST00000445399TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000460808ENST00000450929TGFAchr2

70674639

+TGFAchr2

70674681

-
intron-intronENST00000460808ENST00000460808TGFAchr2

70674639

+TGFAchr2

70674681

-

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

Top

Fusion Genomic Features for TGFA-TGFA


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)


Top

Fusion Protein Features for TGFA-TGFA


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/:70674639/:70674681)
- 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


Top

Fusion Gene Sequence for TGFA-TGFA


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.

Top

Fusion Gene PPI Analysis for TGFA-TGFA


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


Top

Related Drugs for TGFA-TGFA


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

Top

Related Diseases for TGFA-TGFA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFAC2239176Liver carcinoma2CTD_human
HgeneTGFAC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneTGFAC0018671Head and Neck Neoplasms1CTD_human
HgeneTGFAC0018675Head Neoplasms1CTD_human
HgeneTGFAC0019207Hepatoma, Morris1CTD_human
HgeneTGFAC0019208Hepatoma, Novikoff1CTD_human
HgeneTGFAC0020542Pulmonary Hypertension1CTD_human
HgeneTGFAC0021368Inflammation1CTD_human
HgeneTGFAC0023903Liver neoplasms1CTD_human
HgeneTGFAC0023904Liver Neoplasms, Experimental1CTD_human
HgeneTGFAC0024623Malignant neoplasm of stomach1CTD_human
HgeneTGFAC0024667Animal Mammary Neoplasms1CTD_human
HgeneTGFAC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneTGFAC0027533Neck Neoplasms1CTD_human
HgeneTGFAC0027746Nerve Degeneration1CTD_human
HgeneTGFAC0030246Pustulosis of Palms and Soles1CTD_human
HgeneTGFAC0030354Papilloma1CTD_human
HgeneTGFAC0033578Prostatic Neoplasms1CTD_human
HgeneTGFAC0033860Psoriasis1CTD_human
HgeneTGFAC0034063Pulmonary Edema1CTD_human
HgeneTGFAC0034069Pulmonary Fibrosis1CTD_human
HgeneTGFAC0038356Stomach Neoplasms1CTD_human
HgeneTGFAC0086404Experimental Hepatoma1CTD_human
HgeneTGFAC0162770Right Ventricular Hypertrophy1CTD_human
HgeneTGFAC0205874Papilloma, Squamous Cell1CTD_human
HgeneTGFAC0205875Papillomatosis1CTD_human
HgeneTGFAC0206624Hepatoblastoma1CTD_human
HgeneTGFAC0273115Lung Injury1CTD_human
HgeneTGFAC0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneTGFAC0333355Inflammatory disease of mucous membrane1CTD_human
HgeneTGFAC0345904Malignant neoplasm of liver1CTD_human
HgeneTGFAC0376358Malignant neoplasm of prostate1CTD_human
HgeneTGFAC0746787Cancer of Neck1CTD_human
HgeneTGFAC0751177Cancer of Head1CTD_human
HgeneTGFAC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneTGFAC1257925Mammary Carcinoma, Animal1CTD_human
HgeneTGFAC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneTGFAC2350344Chronic Lung Injury1CTD_human
HgeneTGFAC3711374Nonsyndromic Deafness1CTD_human
HgeneTGFAC4721507Alveolitis, Fibrosing1CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0020542Pulmonary Hypertension1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC0030246Pustulosis of Palms and Soles1CTD_human
TgeneC0030354Papilloma1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033860Psoriasis1CTD_human
TgeneC0034063Pulmonary Edema1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0162770Right Ventricular Hypertrophy1CTD_human
TgeneC0205874Papilloma, Squamous Cell1CTD_human
TgeneC0205875Papillomatosis1CTD_human
TgeneC0206624Hepatoblastoma1CTD_human
TgeneC0273115Lung Injury1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0333355Inflammatory disease of mucous membrane1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2350344Chronic Lung Injury1CTD_human
TgeneC3711374Nonsyndromic Deafness1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human