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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: 4996

FusionGeneSummary for C3orf67_FHIT

check button Fusion gene summary
Fusion gene informationFusion gene name: C3orf67_FHIT
Fusion gene ID: 4996
HgeneTgene
Gene symbol

C3orf67

FHIT

Gene ID

200844

2272

Gene namechromosome 3 open reading frame 67fragile histidine triad
Synonyms-AP3Aase|FRA3B
Cytomap

3p14.2

3p14.2

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C3orf67bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase
Modification date2018051920180519
UniProtAcc

Q6ZVT6

P49789

Ensembl transtripts involved in fusion geneENST00000295966, ENST00000482387, 
ENST00000472469, ENST00000491845, 
ENST00000478363, 
ENST00000476844, 
ENST00000492590, ENST00000466788, 
ENST00000468189, ENST00000341848, 
Fusion gene scores* DoF score3 X 2 X 2=1217 X 7 X 10=1190
# samples 320
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1190*10)=-2.57288966842058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C3orf67 [Title/Abstract] AND FHIT [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
TgeneFHIT

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
TCGARVSKCMTCGA-ER-A2NB-01AC3orf67chr3

58899434

-FHITchr3

59738047

-
* 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-shitENST00000295966ENST00000476844C3orf67chr3

58899434

-FHITchr3

59738047

-
Frame-shitENST00000295966ENST00000492590C3orf67chr3

58899434

-FHITchr3

59738047

-
5CDS-5UTRENST00000295966ENST00000466788C3orf67chr3

58899434

-FHITchr3

59738047

-
5CDS-5UTRENST00000295966ENST00000468189C3orf67chr3

58899434

-FHITchr3

59738047

-
5CDS-5UTRENST00000295966ENST00000341848C3orf67chr3

58899434

-FHITchr3

59738047

-
Frame-shitENST00000482387ENST00000476844C3orf67chr3

58899434

-FHITchr3

59738047

-
Frame-shitENST00000482387ENST00000492590C3orf67chr3

58899434

-FHITchr3

59738047

-
5CDS-5UTRENST00000482387ENST00000466788C3orf67chr3

58899434

-FHITchr3

59738047

-
5CDS-5UTRENST00000482387ENST00000468189C3orf67chr3

58899434

-FHITchr3

59738047

-
5CDS-5UTRENST00000482387ENST00000341848C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-3CDSENST00000472469ENST00000476844C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-3CDSENST00000472469ENST00000492590C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000472469ENST00000466788C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000472469ENST00000468189C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000472469ENST00000341848C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-3CDSENST00000491845ENST00000476844C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-3CDSENST00000491845ENST00000492590C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000491845ENST00000466788C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000491845ENST00000468189C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000491845ENST00000341848C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-3CDSENST00000478363ENST00000476844C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-3CDSENST00000478363ENST00000492590C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000478363ENST00000466788C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000478363ENST00000468189C3orf67chr3

58899434

-FHITchr3

59738047

-
intron-5UTRENST00000478363ENST00000341848C3orf67chr3

58899434

-FHITchr3

59738047

-

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FusionProtFeatures for C3orf67_FHIT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C3orf67

Q6ZVT6

FHIT

P49789

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}.

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 C3orf67_FHIT


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 C3orf67_FHIT


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
C3orf67CLK1FHITFHIT, UBE2I, CTNNB1, LEF1, TRIM23, RAB40B, MDM2, REL, TP53, ARHGAP19, MTMR6, RABL2A, CHEK1


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 C3orf67_FHIT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFHITP49789DB04173FructoseBis(5'-adenosyl)-triphosphatasesmall moleculeapproved|experimental

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RelatedDiseases for C3orf67_FHIT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFHITC0024121Lung Neoplasms2CTD_human
TgeneFHITC0025500Mesothelioma2CTD_human
TgeneFHITC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneFHITC0023903Liver neoplasms1CTD_human
TgeneFHITC0033578Prostatic Neoplasms1CTD_human
TgeneFHITC0036341Schizophrenia1PSYGENET
TgeneFHITC0038356Stomach Neoplasms1CTD_human
TgeneFHITC0042076Urologic Neoplasms1CTD_human
TgeneFHITC0236733Amphetamine-Related Disorders1CTD_human
TgeneFHITC0236969Substance-Related Disorders1CTD_human