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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: 12653

FusionGeneSummary for FAM172A_FHIT

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM172A_FHIT
Fusion gene ID: 12653
HgeneTgene
Gene symbol

FAM172A

FHIT

Gene ID

83989

2272

Gene namefamily with sequence similarity 172 member Afragile histidine triad
SynonymsC5orf21AP3Aase|FRA3B
Cytomap

5q15

3p14.2

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM172Abis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase
Modification date2018052320180519
UniProtAcc

Q8WUF8

P49789

Ensembl transtripts involved in fusion geneENST00000395965, ENST00000505869, 
ENST00000509739, ENST00000509163, 
ENST00000504768, 
ENST00000476844, 
ENST00000492590, ENST00000466788, 
ENST00000468189, ENST00000341848, 
Fusion gene scores* DoF score8 X 6 X 5=24017 X 7 X 10=1190
# samples 820
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: FAM172A [Title/Abstract] AND FHIT [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TCGARVKIRCTCGA-B2-4101-01AFAM172Achr5

93294482

-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
In-frameENST00000395965ENST00000476844FAM172Achr5

93294482

-FHITchr3

59738047

-
In-frameENST00000395965ENST00000492590FAM172Achr5

93294482

-FHITchr3

59738047

-
5CDS-5UTRENST00000395965ENST00000466788FAM172Achr5

93294482

-FHITchr3

59738047

-
5CDS-5UTRENST00000395965ENST00000468189FAM172Achr5

93294482

-FHITchr3

59738047

-
5CDS-5UTRENST00000395965ENST00000341848FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-3CDSENST00000505869ENST00000476844FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-3CDSENST00000505869ENST00000492590FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-5UTRENST00000505869ENST00000466788FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-5UTRENST00000505869ENST00000468189FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-5UTRENST00000505869ENST00000341848FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-3CDSENST00000509739ENST00000476844FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-3CDSENST00000509739ENST00000492590FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-5UTRENST00000509739ENST00000466788FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-5UTRENST00000509739ENST00000468189FAM172Achr5

93294482

-FHITchr3

59738047

-
intron-5UTRENST00000509739ENST00000341848FAM172Achr5

93294482

-FHITchr3

59738047

-
Frame-shitENST00000509163ENST00000476844FAM172Achr5

93294482

-FHITchr3

59738047

-
Frame-shitENST00000509163ENST00000492590FAM172Achr5

93294482

-FHITchr3

59738047

-
5CDS-5UTRENST00000509163ENST00000466788FAM172Achr5

93294482

-FHITchr3

59738047

-
5CDS-5UTRENST00000509163ENST00000468189FAM172Achr5

93294482

-FHITchr3

59738047

-
5CDS-5UTRENST00000509163ENST00000341848FAM172Achr5

93294482

-FHITchr3

59738047

-
5UTR-3CDSENST00000504768ENST00000476844FAM172Achr5

93294482

-FHITchr3

59738047

-
5UTR-3CDSENST00000504768ENST00000492590FAM172Achr5

93294482

-FHITchr3

59738047

-
5UTR-5UTRENST00000504768ENST00000466788FAM172Achr5

93294482

-FHITchr3

59738047

-
5UTR-5UTRENST00000504768ENST00000468189FAM172Achr5

93294482

-FHITchr3

59738047

-
5UTR-5UTRENST00000504768ENST00000341848FAM172Achr5

93294482

-FHITchr3

59738047

-

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FusionProtFeatures for FAM172A_FHIT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM172A

Q8WUF8

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
HgeneFAM172Achr5:93294482chr3:59738047ENST00000395965-611413_416189417MotifPrevents secretion from ER
HgeneFAM172Achr5:93294482chr3:59738047ENST00000505869-19413_416-57307MotifPrevents secretion from ER
HgeneFAM172Achr5:93294482chr3:59738047ENST00000509163-510413_416143371MotifPrevents secretion from ER
TgeneFHITchr5:93294482chr3:59738047ENST00000341848-352_109116148DomainHIT
TgeneFHITchr5:93294482chr3:59738047ENST00000468189-792_109116148DomainHIT
TgeneFHITchr5:93294482chr3:59738047ENST00000476844-7102_109116214DomainHIT
TgeneFHITchr5:93294482chr3:59738047ENST00000492590-7102_109116205DomainHIT
TgeneFHITchr5:93294482chr3:59738047ENST00000341848-3594_98116148MotifHistidine triad motif
TgeneFHITchr5:93294482chr3:59738047ENST00000468189-7994_98116148MotifHistidine triad motif
TgeneFHITchr5:93294482chr3:59738047ENST00000476844-71094_98116214MotifHistidine triad motif
TgeneFHITchr5:93294482chr3:59738047ENST00000492590-71094_98116205MotifHistidine triad motif
TgeneFHITchr5:93294482chr3:59738047ENST00000341848-3589_92116148Nucleotide bindingSubstrate
TgeneFHITchr5:93294482chr3:59738047ENST00000468189-7989_92116148Nucleotide bindingSubstrate
TgeneFHITchr5:93294482chr3:59738047ENST00000476844-71089_92116214Nucleotide bindingSubstrate
TgeneFHITchr5:93294482chr3:59738047ENST00000492590-71089_92116205Nucleotide bindingSubstrate


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FusionGeneSequence for FAM172A_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.
>In-frame_FAM172A_ENST00000395965_chr5_93294482_-_FHIT_ENST00000476844_chr3_59738047_-_221aa
MSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFETAFNEKGQLRHIKTGEPFVFNYREDL
HRWNQKRYEALGEIITKTVTELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQ

>In-frame_FAM172A_ENST00000395965_chr5_93294482_-_FHIT_ENST00000492590_chr3_59738047_-_221aa
MSISLSSLILLPIWINMAQIQQGGPDEKEKTTALKDLLSRIDLDELMKKDEPPLDFPDTLEGFETAFNEKGQLRHIKTGEPFVFNYREDL
HRWNQKRYEALGEIITKTVTELLEKDCNLKKVSIPVDATESEPKSFIFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FAM172A_ENST00000395965_chr5_93294482_-_FHIT_ENST00000476844_chr3_59738047_-_663nt
ATGTCTATTTCCTTGAGCTCTTTAATTTTGTTGCCAATTTGGATAAACATGGCACAAATCCAGCAGGGAGGTCCAGATGAAAAAGAAAAG
ACTACCGCACTGAAAGATTTATTATCTAGGATAGATTTGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTG
GAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGTTAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTA
CACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAGAGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAA
AAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAACCAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTG
ATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAGGGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAG
ATACCGTTTATTAAAAGAGCTGTGGCTCTCCAGAAACATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCA

>In-frame_FAM172A_ENST00000395965_chr5_93294482_-_FHIT_ENST00000492590_chr3_59738047_-_663nt
ATGTCTATTTCCTTGAGCTCTTTAATTTTGTTGCCAATTTGGATAAACATGGCACAAATCCAGCAGGGAGGTCCAGATGAAAAAGAAAAG
ACTACCGCACTGAAAGATTTATTATCTAGGATAGATTTGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTG
GAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGTTAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTA
CACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAGAGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAA
AAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAACCAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTG
ATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAGGGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAG
ATACCGTTTATTAAAAGAGCTGTGGCTCTCCAGAAACATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_FAM172A_ENST00000395965_chr5_93294482_-_FHIT_ENST00000476844_chr3_59738047_-_1070nt
GGTCGGGGCGCGGATCCCGAGAGGGAAAGTCATAACAACCGCACGAGGGAGTTCGACTGGCGAACTGGAAGGCCACGCCTCCTCCCGCCT
GCCCCCTCAGCCCTGTGGCTGGGGGCAGAGCTCAGACTGTCTTCTGAAGATTGATGTCTATTTCCTTGAGCTCTTTAATTTTGTTGCCAA
TTTGGATAAACATGGCACAAATCCAGCAGGGAGGTCCAGATGAAAAAGAAAAGACTACCGCACTGAAAGATTTATTATCTAGGATAGATT
TGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGT
TAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAG
AGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAAC
CAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAG
GGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTCTCCAGAAAC
ATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCAGAAGCCGCAGCTCTGCGGGTCTACTTTCAGTGACACA
GATCCTGAATTCCAGCAAAAGAGCTATTGCCAACCAGTTTGAAGACCGCCCCCCGCCTCTCCCCAAGAGGAACTGAATCAGCATGAAAAT
GCAGTTTCTTCATCTCACCATCCTGTATTCTTCAACCAGTGATCCCCCACCTCGGTCACTCCAACTCCCTTAAAATACCTAGACCTAAAC

>In-frame_FAM172A_ENST00000395965_chr5_93294482_-_FHIT_ENST00000492590_chr3_59738047_-_1081nt
GGTCGGGGCGCGGATCCCGAGAGGGAAAGTCATAACAACCGCACGAGGGAGTTCGACTGGCGAACTGGAAGGCCACGCCTCCTCCCGCCT
GCCCCCTCAGCCCTGTGGCTGGGGGCAGAGCTCAGACTGTCTTCTGAAGATTGATGTCTATTTCCTTGAGCTCTTTAATTTTGTTGCCAA
TTTGGATAAACATGGCACAAATCCAGCAGGGAGGTCCAGATGAAAAAGAAAAGACTACCGCACTGAAAGATTTATTATCTAGGATAGATT
TGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGT
TAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAG
AGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAAC
CAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAG
GGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTCTCCAGAAAC
ATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCAGAAGCCGCAGCTCTGCGGGTCTACTTTCAGTGACACA
GATGTTTTTCAGATCCTGAATTCCAGCAAAAGAGCTATTGCCAACCAGTTTGAAGACCGCCCCCCGCCTCTCCCCAAGAGGAACTGAATC
AGCATGAAAATGCAGTTTCTTCATCTCACCATCCTGTATTCTTCAACCAGTGATCCCCCACCTCGGTCACTCCAACTCCCTTAAAATACC
TAGACCTAAACGGCTCAGACAGGCAGATTTGAGGTTTCCCCCTGTCTCCTTATTCGGCAGCCTTATGATTAAACTTCCTTCTCTGCTGCA


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FusionGenePPI for FAM172A_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
FAM172AELAVL1, FGL1, SMU1, STYX, ZNF331, ATP5D, KIR3DL2, DEFB1FHITFHIT, 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 FAM172A_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 FAM172A_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