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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: 13443

FusionGeneSummary for FHIT_KHDRBS3

check button Fusion gene summary
Fusion gene informationFusion gene name: FHIT_KHDRBS3
Fusion gene ID: 13443
HgeneTgene
Gene symbol

FHIT

KHDRBS3

Gene ID

2272

10656

Gene namefragile histidine triadKH RNA binding domain containing, signal transduction associated 3
SynonymsAP3Aase|FRA3BEtle|SALP|SLM-2|SLM2|T-STAR|TSTAR|etoile
Cytomap

3p14.2

8q24.23

Type of geneprotein-codingprotein-coding
Descriptionbis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphataseKH domain-containing, RNA-binding, signal transduction-associated protein 3KH domain containing, RNA binding, signal transduction associated 3RNA-binding protein T-StarSam68-like phosphotyrosine protein, T-STARsam68-like mammalian protein 2
Modification date2018051920180522
UniProtAcc

P49789

O75525

Ensembl transtripts involved in fusion geneENST00000476844, ENST00000492590, 
ENST00000466788, ENST00000468189, 
ENST00000341848, 
ENST00000355849, 
ENST00000520981, ENST00000522578, 
Fusion gene scores* DoF score15 X 9 X 8=108011 X 6 X 9=594
# samples 1611
** MAII scorelog2(16/1080*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/594*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FHIT [Title/Abstract] AND KHDRBS3 [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
HgeneFHIT

GO:0006163

purine nucleotide metabolic process

9323207

TgeneKHDRBS3

GO:0051259

protein complex oligomerization

10332027|10749975


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
TCGARVDLBCTCGA-FF-A7CQ-01AFHITchr3

61027719

-KHDRBS3chr8

136554897

+
* 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
5UTR-3CDSENST00000476844ENST00000355849FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-intronENST00000476844ENST00000520981FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-intronENST00000476844ENST00000522578FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-3CDSENST00000492590ENST00000355849FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-intronENST00000492590ENST00000520981FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-intronENST00000492590ENST00000522578FHITchr3

61027719

-KHDRBS3chr8

136554897

+
intron-3CDSENST00000466788ENST00000355849FHITchr3

61027719

-KHDRBS3chr8

136554897

+
intron-intronENST00000466788ENST00000520981FHITchr3

61027719

-KHDRBS3chr8

136554897

+
intron-intronENST00000466788ENST00000522578FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-3CDSENST00000468189ENST00000355849FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-intronENST00000468189ENST00000520981FHITchr3

61027719

-KHDRBS3chr8

136554897

+
5UTR-intronENST00000468189ENST00000522578FHITchr3

61027719

-KHDRBS3chr8

136554897

+
intron-3CDSENST00000341848ENST00000355849FHITchr3

61027719

-KHDRBS3chr8

136554897

+
intron-intronENST00000341848ENST00000520981FHITchr3

61027719

-KHDRBS3chr8

136554897

+
intron-intronENST00000341848ENST00000522578FHITchr3

61027719

-KHDRBS3chr8

136554897

+

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FusionProtFeatures for FHIT_KHDRBS3


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

P49789

KHDRBS3

O75525

Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A)to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activitywith ATP. Modulates transcriptional activation by CTNNB1 andthereby contributes to regulate the expression of genes essentialfor cell proliferation and survival, such as CCND1 and BIRC5.Plays a role in the induction of apoptosis via SRC and AKT1signaling pathways. Inhibits MDM2-mediated proteasomal degradationof p53/TP53 and thereby plays a role in p53/TP53-mediatedapoptosis. Induction of apoptosis depends on the ability of FHITto bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or relatedcompounds, but does not require its catalytic activity, it may inpart come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calciumuptake. Functions as tumor suppressor.{ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915,ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:8794732,ECO:0000269|PubMed:9323207}. RNA-binding protein that plays a role in the regulationof alternative splicing and influences mRNA splice site selectionand exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3'motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' asa bipartite motif spaced by more than 15 nucleotides. Bindspoly(A). RNA-binding abilities are down-regulated by tyrosinekinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068).Involved in splice site selection of vascular endothelial growthfactor (PubMed:15901763). In vitro regulates CD44 alternativesplicing by direct binding to purine-rich exonic enhancer (Bysimilarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionaryconserved neurexin alternative spliced segment 4 (AS4) involved inneurexin selective targeting to postsynaptic partners such asneuroligins and LRRTM family members (PubMed:26758068). Targeted,cell-type specific splicing regulation of NRXN1 at AS4 is involvedin neuronal glutamatergic synapse function and plasticity (Bysimilarity). May regulate expression of KHDRBS2/SLIM-1 in definedbrain neuron populations by modifying its alternative splicing (Bysimilarity). Can bind FABP9 mRNA (By similarity). May play a roleas a negative regulator of cell growth. Inhibits cellproliferation. {ECO:0000250|UniProtKB:Q9JLP1,ECO:0000250|UniProtKB:Q9R226, ECO:0000269|PubMed:10564820,ECO:0000269|PubMed:15901763, ECO:0000269|PubMed:19561594,ECO:0000269|PubMed:26758068}. (Microbial infection) Involved in post-transcriptionalregulation of HIV-1 gene expression.{ECO:0000269|PubMed:11741900}.

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 FHIT_KHDRBS3


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 FHIT_KHDRBS3


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
FHITFHIT, UBE2I, CTNNB1, LEF1, TRIM23, RAB40B, MDM2, REL, TP53, ARHGAP19, MTMR6, RABL2A, CHEK1KHDRBS3ZNF408, BAHD1, PSMF1, RBMX, CCDC33, LNX1, NUDT18, RBM7, HNRNPK, KHDRBS2, SIAH1, PRMT1, SGSM2, RPAP2, CACNA1A, RBBP6, SERPINB5, FBXO32, SNRPC, U2AF2, PTBP2, KHDRBS3, KHDRBS1, HNRNPC, FUS, NELFB, INPP5D, PRPF31, NCOA5, MARK4, DMRT3, YTHDC1, BMI1, FBXW11, ATXN2, HNRNPR, SYNCRIP, IFI16, PPP1R13B, G3BP1


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 FHIT_KHDRBS3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFHITP49789DB04173FructoseBis(5'-adenosyl)-triphosphatasesmall moleculeapproved|experimental

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RelatedDiseases for FHIT_KHDRBS3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFHITC0024121Lung Neoplasms2CTD_human
HgeneFHITC0025500Mesothelioma2CTD_human
HgeneFHITC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneFHITC0023903Liver neoplasms1CTD_human
HgeneFHITC0033578Prostatic Neoplasms1CTD_human
HgeneFHITC0036341Schizophrenia1PSYGENET
HgeneFHITC0038356Stomach Neoplasms1CTD_human
HgeneFHITC0042076Urologic Neoplasms1CTD_human
HgeneFHITC0236733Amphetamine-Related Disorders1CTD_human
HgeneFHITC0236969Substance-Related Disorders1CTD_human