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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: 13448

FusionGeneSummary for FHIT_RFTN2

check button Fusion gene summary
Fusion gene informationFusion gene name: FHIT_RFTN2
Fusion gene ID: 13448
HgeneTgene
Gene symbol

FHIT

RFTN2

Gene ID

2272

130132

Gene namefragile histidine triadraftlin family member 2
SynonymsAP3Aase|FRA3BC2orf11|Raftlin-2
Cytomap

3p14.2

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionbis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphataseraftlin-2raft-linking protein 2
Modification date2018051920180519
UniProtAcc

P49789

Q52LD8

Ensembl transtripts involved in fusion geneENST00000476844, ENST00000492590, 
ENST00000466788, ENST00000468189, 
ENST00000341848, 
ENST00000295049, 
Fusion gene scores* DoF score15 X 9 X 8=10806 X 3 X 4=72
# samples 165
** MAII scorelog2(16/1080*10)=-2.75488750216347
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: FHIT [Title/Abstract] AND RFTN2 [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


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
ChiTaRS3.1CD518664FHITchr3

60323139

-RFTN2chr2

198512770

+
* 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
intron-intronENST00000476844ENST00000295049FHITchr3

60323139

-RFTN2chr2

198512770

+
intron-intronENST00000492590ENST00000295049FHITchr3

60323139

-RFTN2chr2

198512770

+
intron-intronENST00000466788ENST00000295049FHITchr3

60323139

-RFTN2chr2

198512770

+
intron-intronENST00000468189ENST00000295049FHITchr3

60323139

-RFTN2chr2

198512770

+
intron-intronENST00000341848ENST00000295049FHITchr3

60323139

-RFTN2chr2

198512770

+

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FusionProtFeatures for FHIT_RFTN2


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

P49789

RFTN2

Q52LD8

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}. Upon bacterial lipopolysaccharide stimulation, mediatesclathrin-dependent internalization of TLR4 in dendritic cells,resulting in activation of TICAM1-mediated signaling andsubsequent IFNB1 production. May regulate B-cell antigen receptor-mediated signaling. {ECO:0000250|UniProtKB:Q8CHX7}.

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_RFTN2


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_RFTN2


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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RelatedDrugs for FHIT_RFTN2


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_RFTN2


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