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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:FGA-ECI2 (FusionGDB2 ID:30045)

Fusion Gene Summary for FGA-ECI2

check button Fusion gene summary
Fusion gene informationFusion gene name: FGA-ECI2
Fusion gene ID: 30045
HgeneTgene
Gene symbol

FGA

ECI2

Gene ID

2243

10455

Gene namefibrinogen alpha chainenoyl-CoA delta isomerase 2
SynonymsFib2ACBD2|DRS-1|DRS1|HCA88|PECI|dJ1013A10.3
Cytomap

4q31.3

6p25.2

Type of geneprotein-codingprotein-coding
Descriptionfibrinogen alpha chainfibrinogen, A alpha polypeptideenoyl-CoA delta isomerase 2, mitochondrialD3,D2-enoyl-CoA isomeraseDBI-related protein 1acyl-Coenzyme A binding domain containing 2delta(3),delta(2)-enoyl-CoA isomerasediazepam-binding inhibitor-related protein 1dodecenoyl-CoA isomerasehepatocellul
Modification date2020031520200313
UniProtAcc.

O75521

Ensembl transtripts involved in fusion geneENST00000302053, ENST00000403106, 
ENST00000380118, ENST00000380125, 
ENST00000413766, ENST00000361538, 
ENST00000465828, 
Fusion gene scores* DoF score8 X 8 X 2=1283 X 6 X 4=72
# samples 85
** MAII scorelog2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGA [Title/Abstract] AND ECI2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGA(155507147)-ECI2(4130676), # 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
HgeneFGA

GO:0007160

cell-matrix adhesion

10903502

HgeneFGA

GO:0031639

plasminogen activation

16846481

HgeneFGA

GO:0034116

positive regulation of heterotypic cell-cell adhesion

8100742

HgeneFGA

GO:0034622

cellular protein-containing complex assembly

8910396

HgeneFGA

GO:0042730

fibrinolysis

16846481

HgeneFGA

GO:0043152

induction of bacterial agglutination

24367264

HgeneFGA

GO:0045907

positive regulation of vasoconstriction

15739255

HgeneFGA

GO:0045921

positive regulation of exocytosis

19193866

HgeneFGA

GO:0050714

positive regulation of protein secretion

19193866

HgeneFGA

GO:0051258

protein polymerization

12706644

HgeneFGA

GO:0051592

response to calcium ion

6777381

HgeneFGA

GO:0070374

positive regulation of ERK1 and ERK2 cascade

10903502|19193866

HgeneFGA

GO:0070527

platelet aggregation

6281794

HgeneFGA

GO:0072378

blood coagulation, fibrin clot formation

16846481

HgeneFGA

GO:0090277

positive regulation of peptide hormone secretion

19193866

HgeneFGA

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

10903502

HgeneFGA

GO:2000352

negative regulation of endothelial cell apoptotic process

10903502


check buttonFusion gene breakpoints across FGA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ECI2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LIHCTCGA-DD-A4NP-01AFGAchr4

155507147

-ECI2chr6

4130676

-


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Fusion Gene ORF analysis for FGA-ECI2

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-3CDSENST00000302053ENST00000380118FGAchr4

155507147

-ECI2chr6

4130676

-
intron-3CDSENST00000302053ENST00000380125FGAchr4

155507147

-ECI2chr6

4130676

-
intron-5UTRENST00000302053ENST00000413766FGAchr4

155507147

-ECI2chr6

4130676

-
intron-5UTRENST00000302053ENST00000361538FGAchr4

155507147

-ECI2chr6

4130676

-
intron-5UTRENST00000302053ENST00000465828FGAchr4

155507147

-ECI2chr6

4130676

-
intron-3CDSENST00000403106ENST00000380118FGAchr4

155507147

-ECI2chr6

4130676

-
intron-3CDSENST00000403106ENST00000380125FGAchr4

155507147

-ECI2chr6

4130676

-
intron-5UTRENST00000403106ENST00000413766FGAchr4

155507147

-ECI2chr6

4130676

-
intron-5UTRENST00000403106ENST00000361538FGAchr4

155507147

-ECI2chr6

4130676

-
intron-5UTRENST00000403106ENST00000465828FGAchr4

155507147

-ECI2chr6

4130676

-

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 FGA-ECI2


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FGA-ECI2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ECI2

O75521

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates. {ECO:0000269|PubMed:10419495}.

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 FGA-ECI2


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 FGA-ECI2


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 FGA-ECI2


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

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Related Diseases for FGA-ECI2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGAC2584774Congenital hypofibrinogenemia8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGAC0272350Dysfibrinogenemia, Congenital5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGAC0001733Afibrinogenemia4CTD_human
HgeneFGAC4316812Fibrinogen Deficiency4CTD_human;GENOMICS_ENGLAND
HgeneFGAC0268389Amyloidosis, familial visceral3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGAC0022658Kidney Diseases2CTD_human
HgeneFGAC0740340Amyloidosis, Familial2CTD_human
HgeneFGAC0001787Osteoporosis, Age-Related1CTD_human
HgeneFGAC0008370Cholestasis1CTD_human
HgeneFGAC0013221Drug toxicity1CTD_human
HgeneFGAC0019193Hepatitis, Toxic1CTD_human
HgeneFGAC0026640Mouth Neoplasms1CTD_human
HgeneFGAC0029456Osteoporosis1CTD_human
HgeneFGAC0029459Osteoporosis, Senile1CTD_human
HgeneFGAC0034065Pulmonary Embolism1CTD_human
HgeneFGAC0038454Cerebrovascular accident1CTD_human
HgeneFGAC0040053Thrombosis1CTD_human;GENOMICS_ENGLAND
HgeneFGAC0041755Adverse reaction to drug1CTD_human
HgeneFGAC0087086Thrombus1CTD_human
HgeneFGAC0153381Malignant neoplasm of mouth1CTD_human
HgeneFGAC0398623Thrombophilia1CTD_human;GENOMICS_ENGLAND
HgeneFGAC0524702Pulmonary Thromboembolisms1CTD_human
HgeneFGAC0751406Post-Traumatic Osteoporosis1CTD_human
HgeneFGAC0751956Acute Cerebrovascular Accidents1CTD_human
HgeneFGAC0860207Drug-Induced Liver Disease1CTD_human
HgeneFGAC1262760Hepatitis, Drug-Induced1CTD_human
HgeneFGAC1861172Venous Thromboembolism1CTD_human
HgeneFGAC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneFGAC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneFGAC4279912Chemically-Induced Liver Toxicity1CTD_human