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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: 13289

FusionGeneSummary for FDFT1_GATA4

check button Fusion gene summary
Fusion gene informationFusion gene name: FDFT1_GATA4
Fusion gene ID: 13289
HgeneTgene
Gene symbol

FDFT1

GATA4

Gene ID

2222

2626

Gene namefarnesyl-diphosphate farnesyltransferase 1GATA binding protein 4
SynonymsDGPT|ERG9|SQS|SSASD2|TACHD|TOF|VSD1
Cytomap

8p23.1

8p23.1

Type of geneprotein-codingprotein-coding
Descriptionsqualene synthaseFPP:FPP farnesyltransferasepresqualene-di-diphosphate synthasesqualene synthetasetranscription factor GATA-4GATA-binding factor 4
Modification date2018052320180523
UniProtAcc

P37268

P43694

Ensembl transtripts involved in fusion geneENST00000538689, ENST00000220584, 
ENST00000446331, ENST00000443614, 
ENST00000525900, ENST00000528812, 
ENST00000530664, ENST00000528643, 
ENST00000525777, 		ENST00000528712, 
ENST00000335135, ENST00000532059, 
Fusion gene scores* DoF score8 X 7 X 7=3925 X 4 X 6=120
# samples 126
** MAII scorelog2(12/392*10)=-1.70781924850669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FDFT1 [Title/Abstract] AND GATA4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
Tissue-specifically expressed gene involved fusion gene, inframe and retained their domain.
* 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
TgeneGATA4

GO:0045893

positive regulation of transcription, DNA-templated

24000169

TgeneGATA4

GO:0045944

positive regulation of transcription by RNA polymerase II

21330551

TgeneGATA4

GO:0060575

intestinal epithelial cell differentiation

9566909


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
TCGARVBLCATCGA-XF-A9ST-01AFDFT1chr8

11679387

+GATA4chr8

11614444

+
TCGARVOVTCGA-09-2051-01AFDFT1chr8

11667359

+GATA4chr8

11612555

+
* 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
Frame-shiftENST00000538689ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000538689ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000538689ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000220584ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000220584ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000220584ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
intron-3CDSENST00000446331ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
intron-3CDSENST00000446331ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
intron-3CDSENST00000446331ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
intron-3CDSENST00000443614ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
intron-3CDSENST00000443614ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
intron-3CDSENST00000443614ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000525900ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000525900ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000525900ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000528812ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000528812ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000528812ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000530664ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000530664ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000530664ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000528643ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000528643ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000528643ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000525777ENST00000528712FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000525777ENST00000335135FDFT1chr8

11679387

+GATA4chr8

11614444

+
Frame-shiftENST00000525777ENST00000532059FDFT1chr8

11679387

+GATA4chr8

11614444

+
In-frameENST00000538689ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000538689ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000538689ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000220584ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000220584ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000220584ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
intron-3CDSENST00000446331ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
intron-3CDSENST00000446331ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
intron-3CDSENST00000446331ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000443614ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000443614ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000443614ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000525900ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000525900ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000525900ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000528812ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000528812ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000528812ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000530664ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000530664ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000530664ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000528643ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000528643ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000528643ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000525777ENST00000528712FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000525777ENST00000335135FDFT1chr8

11667359

+GATA4chr8

11612555

+
In-frameENST00000525777ENST00000532059FDFT1chr8

11667359

+GATA4chr8

11612555

+

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FusionProtFeatures for FDFT1_GATA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FDFT1

P37268

GATA4

P43694

Transcriptional activator that binds to the consensussequence 5'-AGATAG-3' and plays a key role in cardiac developmentand function (PubMed:24000169, PubMed:27984724). In cooperationwith TBX5, it binds to cardiac super-enhancers and promotescardiomyocyte gene expression, while it downregulates endocardialand endothelial gene expression (PubMed:27984724). Involved inbone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE)DNA sequences within cardiac activating regions (By similarity).Acts as a transcriptional activator of ANF in cooperation withNKX2-5 (By similarity). Promotes cardiac myocyte enlargement(PubMed:20081228). Required during testicular development(PubMed:21220346). May play a role in sphingolipid signaling byregulating the expression of sphingosine-1-phosphate degradingenzyme, spingosine-1-phosphate lyase (PubMed:15734735).{ECO:0000250|UniProtKB:P46152, ECO:0000250|UniProtKB:Q08369,ECO:0000269|PubMed:15734735, ECO:0000269|PubMed:20081228,ECO:0000269|PubMed:21220346, ECO:0000269|PubMed:24000169,ECO:0000269|PubMed:27984724}.

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
HgeneFDFT1chr8:11667359chr8:11612555ENST00000220584+38284_304127418TransmembraneHelical
HgeneFDFT1chr8:11667359chr8:11612555ENST00000220584+38384_404127418TransmembraneHelical
TgeneGATA4chr8:11667359chr8:11612555ENST00000335135+37118_126303443Compositional biasNote=Poly-Ala
TgeneGATA4chr8:11667359chr8:11612555ENST00000335135+37174_181303443Compositional biasNote=Poly-Ala
TgeneGATA4chr8:11667359chr8:11612555ENST00000335135+37276_280303443Compositional biasNote=Poly-Thr
TgeneGATA4chr8:11667359chr8:11612555ENST00000335135+37217_241303443Zinc fingerGATA-type 1
TgeneGATA4chr8:11667359chr8:11612555ENST00000335135+37271_295303443Zinc fingerGATA-type 2


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FusionGeneSequence for FDFT1_GATA4


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 FDFT1_GATA4


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
FDFT1PSTPIP1, RUVBL1, SMNDC1, ANXA5, TMEM43, RUVBL2, ARL6IP1, SHPRH, FN1, UBL4A, HDAC10, GLP1R, EGFR, FBXO6, SYVN1, SRPRB, UCHL5, PNKD, P2RX4, STK32C, SERPINA4, HERC2, PTP4A1, DUSP6, USP32, UNC93B1, CNNM1, P2RX1, CD97, POMT2, LMNAGATA4MDC1, NKX2-5, TBX5, HAND2, NR5A1, ZFPM2, SRF, MAPK1, ID1, ID2, ID3, ALX4, ZBTB3, EP300, SP1, HDAC2, EZH2, EZH1, SUZ12, JARID2, KDM6A, FOXE1


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 FDFT1_GATA4


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

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RelatedDiseases for FDFT1_GATA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFDFT1C0024809Marijuana Abuse1CTD_human
HgeneFDFT1C0031391Phencyclidine Abuse1CTD_human
HgeneFDFT1C0236736Cocaine-Related Disorders1CTD_human
HgeneFDFT1C2239176Liver carcinoma1CTD_human
TgeneGATA4C1842778Atrial septal defect 26CTD_human;UNIPROT
TgeneGATA4C3280777VENTRICULAR SEPTAL DEFECT 14UNIPROT
TgeneGATA4C3280781ATRIOVENTRICULAR SEPTAL DEFECT 43UNIPROT
TgeneGATA4C0018800Cardiomegaly2CTD_human
TgeneGATA4C0001973Alcoholic Intoxication, Chronic1CTD_human
TgeneGATA4C0009404Colorectal Neoplasms1CTD_human
TgeneGATA4C0019284Diaphragmatic Hernia1CTD_human
TgeneGATA4C0027051Myocardial Infarction1CTD_human
TgeneGATA4C0039685Tetralogy of Fallot1HPO;ORPHANET;UNIPROT
TgeneGATA4C0235833Congenital diaphragmatic hernia1CTD_human
TgeneGATA4C3809858TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE1UNIPROT