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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:ORAOV1-FTH1 (FusionGDB2 ID:61266)

Fusion Gene Summary for ORAOV1-FTH1

check button Fusion gene summary
Fusion gene informationFusion gene name: ORAOV1-FTH1
Fusion gene ID: 61266
HgeneTgene
Gene symbol

ORAOV1

FTH1

Gene ID

220064

2495

Gene nameLTO1 maturation factor of ABCE1ferritin heavy chain 1
SynonymsCIAB1|ORAOV1|TAOS1FHC|FTH|FTHL6|HFE5|PIG15|PLIF
Cytomap

11q13.3

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionprotein LTO1 homologLTO1, ABCE1 maturation factororal cancer overexpressed 1oral cancer overexpressed protein 1-Aoral cancer-overexpressed protein 1tumor-amplified and overexpressed sequence 1ferritin heavy chainapoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin, heavy polypeptide 1placenta immunoregulatory factorproliferation-inducing protein 15
Modification date2020031320200329
UniProtAcc.

P02794

Ensembl transtripts involved in fusion geneENST00000542515, ENST00000279147, 
ENST00000536870, ENST00000535657, 
ENST00000539414, ENST00000542341, 
ENST00000529631, ENST00000529191, 
ENST00000273550, ENST00000526640, 
ENST00000532601, 
Fusion gene scores* DoF score9 X 7 X 7=44120 X 21 X 8=3360
# samples 927
** MAII scorelog2(9/441*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/3360*10)=-3.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ORAOV1 [Title/Abstract] AND FTH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointORAOV1(69481537)-FTH1(61735103), # 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
HgeneORAOV1

GO:0106035

protein maturation by [4Fe-4S] cluster transfer

26182403

TgeneFTH1

GO:0006880

intracellular sequestering of iron ion

9924025

TgeneFTH1

GO:0048147

negative regulation of fibroblast proliferation

9924025


check buttonFusion gene breakpoints across ORAOV1 (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 FTH1 (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/AAK054816ORAOV1chr11

69481537

-FTH1chr11

61735103

-


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Fusion Gene ORF analysis for ORAOV1-FTH1

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-3CDSENST00000542515ENST00000529631ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000542515ENST00000529191ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-5UTRENST00000542515ENST00000273550ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000542515ENST00000526640ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000542515ENST00000532601ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000279147ENST00000529631ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000279147ENST00000529191ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-5UTRENST00000279147ENST00000273550ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000279147ENST00000526640ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000279147ENST00000532601ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000536870ENST00000529631ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000536870ENST00000529191ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-5UTRENST00000536870ENST00000273550ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000536870ENST00000526640ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000536870ENST00000532601ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000535657ENST00000529631ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000535657ENST00000529191ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-5UTRENST00000535657ENST00000273550ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000535657ENST00000526640ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000535657ENST00000532601ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000539414ENST00000529631ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000539414ENST00000529191ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-5UTRENST00000539414ENST00000273550ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000539414ENST00000526640ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000539414ENST00000532601ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000542341ENST00000529631ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-3CDSENST00000542341ENST00000529191ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-5UTRENST00000542341ENST00000273550ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000542341ENST00000526640ORAOV1chr11

69481537

-FTH1chr11

61735103

-
intron-intronENST00000542341ENST00000532601ORAOV1chr11

69481537

-FTH1chr11

61735103

-

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 ORAOV1-FTH1


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 ORAOV1-FTH1


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

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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}.

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 ORAOV1-FTH1


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 ORAOV1-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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Related Drugs for ORAOV1-FTH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFTH1P02794DB01592IronSmall moleculeApproved
TgeneFTH1P02794DB01592IronSmall moleculeApproved
TgeneFTH1P02794DB01592IronSmall moleculeApproved
TgeneFTH1P02794DB01592IronSmall moleculeApproved
TgeneFTH1P02794DB01592IronSmall moleculeApproved
TgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
TgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
TgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
TgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
TgeneFTH1P02794DB14488Ferrous gluconateSmall moleculeApproved
TgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
TgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
TgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
TgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
TgeneFTH1P02794DB14489Ferrous succinateSmall moleculeApproved
TgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
TgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
TgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
TgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
TgeneFTH1P02794DB14490Ferrous ascorbateSmall moleculeApproved
TgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
TgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
TgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
TgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
TgeneFTH1P02794DB14491Ferrous fumarateSmall moleculeApproved
TgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneFTH1P02794DB14501Ferrous glycine sulfateSmall moleculeApproved
TgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneFTH1P02794DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
TgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
TgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
TgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved
TgeneFTH1P02794DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved

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Related Diseases for ORAOV1-FTH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFTH1C0011573Endogenous depression1CTD_human
TgeneFTH1C0011581Depressive disorder1CTD_human
TgeneFTH1C0011616Contact Dermatitis1CTD_human
TgeneFTH1C0017638Glioma1CTD_human
TgeneFTH1C0022548Keloid1CTD_human
TgeneFTH1C0025193Melancholia1CTD_human
TgeneFTH1C0027626Neoplasm Invasiveness1CTD_human
TgeneFTH1C0032927Precancerous Conditions1CTD_human
TgeneFTH1C0041696Unipolar Depression1CTD_human
TgeneFTH1C0086133Depressive Syndrome1CTD_human
TgeneFTH1C0162351Contact hypersensitivity1CTD_human
TgeneFTH1C0259783mixed gliomas1CTD_human
TgeneFTH1C0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneFTH1C0282126Depression, Neurotic1CTD_human
TgeneFTH1C0282193Iron Overload1CTD_human
TgeneFTH1C0282313Condition, Preneoplastic1CTD_human
TgeneFTH1C0345967Malignant mesothelioma1CTD_human
TgeneFTH1C0524851Neurodegenerative Disorders1CTD_human
TgeneFTH1C0555198Malignant Glioma1CTD_human
TgeneFTH1C0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneFTH1C1851316Iron Overload, Autosomal Dominant1CTD_human;GENOMICS_ENGLAND;ORPHANET