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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: 12617

FusionGeneSummary for FAM162A_FTH1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM162A_FTH1
Fusion gene ID: 12617
HgeneTgene
Gene symbol

FAM162A

FTH1

Gene ID

26355

2495

Gene namefamily with sequence similarity 162 member Aferritin heavy chain 1
SynonymsC3orf28|E2IG5|HGTD-PFHC|FTH|FTHL6|HFE5|PIG15|PLIF
Cytomap

3q21.1

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM162AE2-induced gene 5 proteinHIF-1 alpha-responsive proapoptotic moleculegrowth and transformation-dependent proteinferritin heavy chainapoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin, heavy polypeptide 1placenta immunoregulatory factorproliferation-inducing protein 15
Modification date2018051920180523
UniProtAcc

Q96A26

P02794

Ensembl transtripts involved in fusion geneENST00000232125, ENST00000477892, 
ENST00000469967, 
ENST00000529631, 
ENST00000529191, ENST00000273550, 
ENST00000526640, ENST00000532601, 
Fusion gene scores* DoF score3 X 2 X 5=305 X 5 X 1=25
# samples 55
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/25*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAM162A [Title/Abstract] AND FTH1 [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
HgeneFAM162A

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15082785

HgeneFAM162A

GO:0043065

positive regulation of apoptotic process

15082785

HgeneFAM162A

GO:0071456

cellular response to hypoxia

15082785

HgeneFAM162A

GO:0090200

positive regulation of release of cytochrome c from mitochondria

15082785

TgeneFTH1

GO:0006880

intracellular sequestering of iron ion

9924025

TgeneFTH1

GO:0048147

negative regulation of fibroblast proliferation

9924025


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
ChiTaRS3.1BI491844FAM162Achr3

122126184

-FTH1chr11

61732036

+
* 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
5CDS-intronENST00000232125ENST00000529631FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000232125ENST00000529191FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-3UTRENST00000232125ENST00000273550FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000232125ENST00000526640FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000232125ENST00000532601FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000477892ENST00000529631FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000477892ENST00000529191FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-3UTRENST00000477892ENST00000273550FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000477892ENST00000526640FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000477892ENST00000532601FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000469967ENST00000529631FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000469967ENST00000529191FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-3UTRENST00000469967ENST00000273550FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000469967ENST00000526640FAM162Achr3

122126184

-FTH1chr11

61732036

+
5CDS-intronENST00000469967ENST00000532601FAM162Achr3

122126184

-FTH1chr11

61732036

+

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FusionProtFeatures for FAM162A_FTH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM162A

Q96A26

FTH1

P02794

Proposed to be involved in regulation of apoptosis; theexact mechanism may differ between cell types/tissues. May beinvolved in hypoxia-induced cell death of transformed cellsimplicating cytochrome C release and caspase activation (such asCASP9) and inducing mitochondrial permeability transition. May beinvolved in hypoxia-induced cell death of neuronal cells probablyby promoting release of AIFM1 from mitochondria to cytoplasm andits translocation to the nucleus; however, the involvement ofcaspases has been reported conflictingly.{ECO:0000269|PubMed:15082785}. Stores iron in a soluble, non-toxic, readily availableform. Important for iron homeostasis. Has ferroxidase activity.Iron is taken up in the ferrous form and deposited as ferrichydroxides after oxidation. Also plays a role in delivery of ironto cells. Mediates iron uptake in capsule cells of the developingkidney (By similarity). {ECO:0000250}.

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 FAM162A_FTH1


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 FAM162A_FTH1


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 FAM162A_FTH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFTH1P02794DB01592IronFerritin heavy chainsmall moleculeapproved

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RelatedDiseases for FAM162A_FTH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFTH1C0011581Depressive disorder1CTD_human
TgeneFTH1C0011616Contact Dermatitis1CTD_human
TgeneFTH1C0017638Glioma1CTD_human
TgeneFTH1C0022548Keloid1CTD_human
TgeneFTH1C0027626Neoplasm Invasiveness1CTD_human
TgeneFTH1C0032927Precancerous Conditions1CTD_human
TgeneFTH1C0282193Iron Overload1CTD_human
TgeneFTH1C0345967Malignant mesothelioma1CTD_human
TgeneFTH1C0524851Neurodegenerative Disorders1CTD_human