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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FTH1-FAM162A (FusionGDB2 ID:31490)

Fusion Gene Summary for FTH1-FAM162A

check button Fusion gene summary
Fusion gene informationFusion gene name: FTH1-FAM162A
Fusion gene ID: 31490
HgeneTgene
Gene symbol

FTH1

FAM162A

Gene ID

2495

26355

Gene nameferritin heavy chain 1family with sequence similarity 162 member A
SynonymsFHC|FTH|FTHL6|HFE5|PIG15|PLIFC3orf28|E2IG5|HGTD-P
Cytomap

11q12.3

3q21.1

Type of geneprotein-codingprotein-coding
Descriptionferritin heavy chainapoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin, heavy polypeptide 1placenta immunoregulatory factorproliferation-inducing protein 15protein FAM162AE2-induced gene 5 proteinHIF-1 alpha-responsive proapoptotic moleculegrowth and transformation-dependent protein
Modification date2020032920200313
UniProtAcc

P02794

Q96A26

Ensembl transtripts involved in fusion geneENST00000529631, ENST00000529191, 
ENST00000273550, ENST00000526640, 
ENST00000532601, 		ENST00000232125, 
ENST00000477892, ENST00000469967, 
Fusion gene scores* DoF score29 X 25 X 6=43505 X 5 X 2=50
# samples 495
** MAII scorelog2(49/4350*10)=-3.15016174662088
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

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

Most frequent breakpointFAM162A(122126184)-FTH1(61732036), # samples:2
FTH1(61732036)-FAM162A(122126184), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneFTH1

GO:0006880

intracellular sequestering of iron ion

9924025

HgeneFTH1

GO:0048147

negative regulation of fibroblast proliferation

9924025

TgeneFAM162A

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15082785

TgeneFAM162A

GO:0043065

positive regulation of apoptotic process

15082785

TgeneFAM162A

GO:0071456

cellular response to hypoxia

15082785

TgeneFAM162A

GO:0090200

positive regulation of release of cytochrome c from mitochondria

15082785


check buttonFusion gene breakpoints across FTH1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across FAM162A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAW020886FTH1chr11

61732036

-FAM162Achr3

122126184

+


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Fusion Gene ORF analysis for FTH1-FAM162A

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-3CDSENST00000529631ENST00000232125FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000529631ENST00000477892FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000529631ENST00000469967FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000529191ENST00000232125FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000529191ENST00000477892FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000529191ENST00000469967FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000273550ENST00000232125FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000273550ENST00000477892FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000273550ENST00000469967FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000526640ENST00000232125FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000526640ENST00000477892FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000526640ENST00000469967FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000532601ENST00000232125FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000532601ENST00000477892FTH1chr11

61732036

-FAM162Achr3

122126184

+
intron-3CDSENST00000532601ENST00000469967FTH1chr11

61732036

-FAM162Achr3

122126184

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FTH1-FAM162A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FTH1-FAM162A


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FTH1

P02794

FAM162A

Q96A26

FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250}.FUNCTION: Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues (PubMed:15082785). May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition (PubMed:15082785). May be involved in hypoxia-induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly (By similarity). {ECO:0000250|UniProtKB:Q9D6U8, ECO:0000269|PubMed:15082785}.

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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Fusion Gene Sequence for FTH1-FAM162A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FTH1-FAM162A


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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Related Drugs for FTH1-FAM162A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFTH1P02794DB01592IronSmall moleculeApproved
HgeneFTH1P02794DB01592IronSmall moleculeApproved
HgeneFTH1P02794DB01592IronSmall moleculeApproved
HgeneFTH1P02794DB01592IronSmall moleculeApproved
HgeneFTH1P02794DB01592IronSmall moleculeApproved
HgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
HgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
HgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
HgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
HgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
HgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
HgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
HgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
HgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
HgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
HgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
HgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
HgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
HgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
HgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
HgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
HgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
HgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
HgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
HgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
HgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
HgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
HgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
HgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
HgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
HgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
HgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
HgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
HgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
HgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved

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Related Diseases for FTH1-FAM162A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFTH1C0011573Endogenous depression1CTD_human
HgeneFTH1C0011581Depressive disorder1CTD_human
HgeneFTH1C0011616Contact Dermatitis1CTD_human
HgeneFTH1C0017638Glioma1CTD_human
HgeneFTH1C0022548Keloid1CTD_human
HgeneFTH1C0025193Melancholia1CTD_human
HgeneFTH1C0027626Neoplasm Invasiveness1CTD_human
HgeneFTH1C0032927Precancerous Conditions1CTD_human
HgeneFTH1C0041696Unipolar Depression1CTD_human
HgeneFTH1C0086133Depressive Syndrome1CTD_human
HgeneFTH1C0162351Contact hypersensitivity1CTD_human
HgeneFTH1C0259783mixed gliomas1CTD_human
HgeneFTH1C0270715Degenerative Diseases, Central Nervous System1CTD_human
HgeneFTH1C0282126Depression, Neurotic1CTD_human
HgeneFTH1C0282193Iron Overload1CTD_human
HgeneFTH1C0282313Condition, Preneoplastic1CTD_human
HgeneFTH1C0345967Malignant mesothelioma1CTD_human
HgeneFTH1C0524851Neurodegenerative Disorders1CTD_human
HgeneFTH1C0555198Malignant Glioma1CTD_human
HgeneFTH1C0751733Degenerative Diseases, Spinal Cord1CTD_human
HgeneFTH1C1851316Iron Overload, Autosomal Dominant1CTD_human;GENOMICS_ENGLAND;ORPHANET