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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:FHIT-ARHGEF3 (FusionGDB2 ID:30256)

Fusion Gene Summary for FHIT-ARHGEF3

check button Fusion gene summary
Fusion gene informationFusion gene name: FHIT-ARHGEF3
Fusion gene ID: 30256
HgeneTgene
Gene symbol

FHIT

ARHGEF3

Gene ID

2272

50650

Gene namefragile histidine triad diadenosine triphosphataseRho guanine nucleotide exchange factor 3
SynonymsAP3Aase|FRA3BGEF3|STA3|XPLN
Cytomap

3p14.2

3p14.3

Type of geneprotein-codingprotein-coding
Descriptionbis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphataserho guanine nucleotide exchange factor 359.8 kDA proteinRho guanine nucleotide exchange factor (GEF) 3RhoGEF proteinexchange factor found in platelets and leukemic and neuronal tissues, XPLN
Modification date2020031320200327
UniProtAcc.

Q8N4T4

Ensembl transtripts involved in fusion geneENST00000476844, ENST00000492590, 
ENST00000466788, ENST00000468189, 
ENST00000341848, 		ENST00000338458, 
ENST00000496106, ENST00000498517, 
ENST00000296315, ENST00000413728, 
ENST00000497267, ENST00000495373, 
Fusion gene scores* DoF score26 X 19 X 9=44469 X 7 X 7=441
# samples 2610
** MAII scorelog2(26/4446*10)=-4.09592441999854
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/441*10)=-2.1407786557828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FHIT [Title/Abstract] AND ARHGEF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFHIT(61186291)-ARHGEF3(56916382), # 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
HgeneFHIT

GO:0006163

purine nucleotide metabolic process

9323207


check buttonFusion gene breakpoints across FHIT (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 ARHGEF3 (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
ChimerDB4SKCMTCGA-Z2-AA3S-06AFHITchr3

61186291

-ARHGEF3chr3

56916382

-


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Fusion Gene ORF analysis for FHIT-ARHGEF3

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
5UTR-3CDSENST00000476844ENST00000338458FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-3CDSENST00000476844ENST00000496106FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-5UTRENST00000476844ENST00000498517FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000476844ENST00000296315FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000476844ENST00000413728FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000476844ENST00000497267FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000476844ENST00000495373FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-3CDSENST00000492590ENST00000338458FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-3CDSENST00000492590ENST00000496106FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-5UTRENST00000492590ENST00000498517FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000492590ENST00000296315FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000492590ENST00000413728FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000492590ENST00000497267FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000492590ENST00000495373FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-3CDSENST00000466788ENST00000338458FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-3CDSENST00000466788ENST00000496106FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-5UTRENST00000466788ENST00000498517FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000466788ENST00000296315FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000466788ENST00000413728FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000466788ENST00000497267FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000466788ENST00000495373FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-3CDSENST00000468189ENST00000338458FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-3CDSENST00000468189ENST00000496106FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-5UTRENST00000468189ENST00000498517FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000468189ENST00000296315FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000468189ENST00000413728FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000468189ENST00000497267FHITchr3

61186291

-ARHGEF3chr3

56916382

-
5UTR-intronENST00000468189ENST00000495373FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-3CDSENST00000341848ENST00000338458FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-3CDSENST00000341848ENST00000496106FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-5UTRENST00000341848ENST00000498517FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000341848ENST00000296315FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000341848ENST00000413728FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000341848ENST00000497267FHITchr3

61186291

-ARHGEF3chr3

56916382

-
intron-intronENST00000341848ENST00000495373FHITchr3

61186291

-ARHGEF3chr3

56916382

-

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 FHIT-ARHGEF3


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 FHIT-ARHGEF3


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
.ARHGEF3

Q8N4T4

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: Promotes cell proliferation. {ECO:0000269|PubMed:22327280}.

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 FHIT-ARHGEF3


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 FHIT-ARHGEF3


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 FHIT-ARHGEF3


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 FHIT-ARHGEF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFHITC0024121Lung Neoplasms2CTD_human
HgeneFHITC0025500Mesothelioma2CTD_human
HgeneFHITC0242379Malignant neoplasm of lung2CTD_human
HgeneFHITC0007097Carcinoma1CTD_human
HgeneFHITC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneFHITC0013146Drug abuse1CTD_human
HgeneFHITC0013170Drug habituation1CTD_human
HgeneFHITC0013222Drug Use Disorders1CTD_human
HgeneFHITC0023903Liver neoplasms1CTD_human
HgeneFHITC0024623Malignant neoplasm of stomach1CTD_human
HgeneFHITC0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneFHITC0033578Prostatic Neoplasms1CTD_human
HgeneFHITC0038356Stomach Neoplasms1CTD_human
HgeneFHITC0038580Substance Dependence1CTD_human
HgeneFHITC0038586Substance Use Disorders1CTD_human
HgeneFHITC0042076Urologic Neoplasms1CTD_human
HgeneFHITC0205696Anaplastic carcinoma1CTD_human
HgeneFHITC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneFHITC0205698Undifferentiated carcinoma1CTD_human
HgeneFHITC0205699Carcinomatosis1CTD_human
HgeneFHITC0236733Amphetamine-Related Disorders1CTD_human
HgeneFHITC0236804Amphetamine Addiction1CTD_human
HgeneFHITC0236807Amphetamine Abuse1CTD_human
HgeneFHITC0236969Substance-Related Disorders1CTD_human
HgeneFHITC0345904Malignant neoplasm of liver1CTD_human
HgeneFHITC0376358Malignant neoplasm of prostate1CTD_human
HgeneFHITC0740858Substance abuse problem1CTD_human
HgeneFHITC0751571Cancer of Urinary Tract1CTD_human
HgeneFHITC1510472Drug Dependence1CTD_human
HgeneFHITC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneFHITC4316881Prescription Drug Abuse1CTD_human