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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:HIF1A-OFD1 (FusionGDB2 ID:HG3091TG8481)

Fusion Gene Summary for HIF1A-OFD1

check button Fusion gene summary
Fusion gene informationFusion gene name: HIF1A-OFD1
Fusion gene ID: hg3091tg8481
HgeneTgene
Gene symbol

HIF1A

OFD1

Gene ID

3091

8481

Gene namehypoxia inducible factor 1 subunit alphaOFD1 centriole and centriolar satellite protein
SynonymsHIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe7871-7A|CXorf5|JBTS10|RP23|SGBS2
Cytomap('HIF1A')('OFD1')

14q23.2

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptionhypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit oral-facial-digital syndrome 1 proteinJoubert syndrome type 10protein 71-7A
Modification date2020032920200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000337138, ENST00000394997, 
ENST00000539097, ENST00000557538, 
ENST00000323441, ENST00000557206, 
Fusion gene scores* DoF score14 X 11 X 10=15407 X 9 X 3=189
# samples 249
** MAII scorelog2(24/1540*10)=-2.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HIF1A [Title/Abstract] AND OFD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHIF1A(62212432)-OFD1(13755171), # 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
HgeneHIF1A

GO:0001666

response to hypoxia

8756616|9887100|11782478|15261140|18419598

HgeneHIF1A

GO:0006355

regulation of transcription, DNA-templated

11782478|15261140

HgeneHIF1A

GO:0010468

regulation of gene expression

18419598

HgeneHIF1A

GO:0010573

vascular endothelial growth factor production

12958148

HgeneHIF1A

GO:0010575

positive regulation of vascular endothelial growth factor production

8756616

HgeneHIF1A

GO:0010628

positive regulation of gene expression

15459207|24244340

HgeneHIF1A

GO:0032364

oxygen homeostasis

16956324

HgeneHIF1A

GO:0043619

regulation of transcription from RNA polymerase II promoter in response to oxidative stress

8089148|8387214

HgeneHIF1A

GO:0045893

positive regulation of transcription, DNA-templated

8089148|9887100|25043030

HgeneHIF1A

GO:0045944

positive regulation of transcription by RNA polymerase II

11573933

HgeneHIF1A

GO:0046886

positive regulation of hormone biosynthetic process

1448077

HgeneHIF1A

GO:0061419

positive regulation of transcription from RNA polymerase II promoter in response to hypoxia

22735262

HgeneHIF1A

GO:0071456

cellular response to hypoxia

11573933|19528298|20889502

HgeneHIF1A

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19782034

HgeneHIF1A

GO:1903377

negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

24899725



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/ACD656091HIF1Achr14

62212432

+OFD1chrX

13755171

+


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Fusion Gene ORF analysis for HIF1A-OFD1

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-intronENST00000337138ENST00000340096HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000337138ENST00000380550HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000337138ENST00000380567HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000337138ENST00000398395HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000337138ENST00000490265HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000394997ENST00000340096HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000394997ENST00000380550HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000394997ENST00000380567HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000394997ENST00000398395HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000394997ENST00000490265HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000539097ENST00000340096HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000539097ENST00000380550HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000539097ENST00000380567HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000539097ENST00000398395HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000539097ENST00000490265HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000557538ENST00000340096HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000557538ENST00000380550HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000557538ENST00000380567HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000557538ENST00000398395HIF1Achr14

62212432

+OFD1chrX

13755171

+
5CDS-intronENST00000557538ENST00000490265HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000323441ENST00000340096HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000323441ENST00000380550HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000323441ENST00000380567HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000323441ENST00000398395HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000323441ENST00000490265HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000557206ENST00000340096HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000557206ENST00000380550HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000557206ENST00000380567HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000557206ENST00000398395HIF1Achr14

62212432

+OFD1chrX

13755171

+
intron-intronENST00000557206ENST00000490265HIF1Achr14

62212432

+OFD1chrX

13755171

+

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 HIF1A-OFD1


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)


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Fusion Protein Features for HIF1A-OFD1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:62212432/:13755171)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 HIF1A-OFD1


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 HIF1A-OFD1


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 HIF1A-OFD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HIF1A-OFD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHIF1AC0027055Myocardial Reperfusion Injury2CTD_human
HgeneHIF1AC0027626Neoplasm Invasiveness2CTD_human
HgeneHIF1AC0002793Anaplasia1CTD_human
HgeneHIF1AC0004114Astrocytoma1CTD_human
HgeneHIF1AC0005586Bipolar Disorder1PSYGENET
HgeneHIF1AC0006142Malignant neoplasm of breast1CTD_human
HgeneHIF1AC0007097Carcinoma1CTD_human
HgeneHIF1AC0007114Malignant neoplasm of skin1CTD_human
HgeneHIF1AC0007124Noninfiltrating Intraductal Carcinoma1CTD_human
HgeneHIF1AC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneHIF1AC0007621Neoplastic Cell Transformation1CTD_human
HgeneHIF1AC0007786Brain Ischemia1CTD_human
HgeneHIF1AC0008312Primary biliary cirrhosis1CTD_human
HgeneHIF1AC0008313Cholangitis, Sclerosing1CTD_human
HgeneHIF1AC0011570Mental Depression1PSYGENET
HgeneHIF1AC0017636Glioblastoma1CTD_human
HgeneHIF1AC0018798Congenital Heart Defects1CTD_human
HgeneHIF1AC0018800Cardiomegaly1CTD_human
HgeneHIF1AC0018801Heart failure1CTD_human
HgeneHIF1AC0018802Congestive heart failure1CTD_human
HgeneHIF1AC0020507Hyperplasia1CTD_human
HgeneHIF1AC0020538Hypertensive disease1CTD_human
HgeneHIF1AC0020542Pulmonary Hypertension1CTD_human
HgeneHIF1AC0023212Left-Sided Heart Failure1CTD_human
HgeneHIF1AC0023892Biliary cirrhosis1CTD_human
HgeneHIF1AC0024115Lung diseases1CTD_human
HgeneHIF1AC0027659Neoplasms, Experimental1CTD_human
HgeneHIF1AC0030297Pancreatic Neoplasm1CTD_human
HgeneHIF1AC0033578Prostatic Neoplasms1CTD_human
HgeneHIF1AC0037286Skin Neoplasms1CTD_human
HgeneHIF1AC0040136Thyroid Neoplasm1CTD_human
HgeneHIF1AC0041696Unipolar Depression1PSYGENET
HgeneHIF1AC0151468Thyroid Gland Follicular Adenoma1CTD_human
HgeneHIF1AC0178540Cerebral Hypoxia-Ischemia1CTD_human
HgeneHIF1AC0205696Anaplastic carcinoma1CTD_human
HgeneHIF1AC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneHIF1AC0205698Undifferentiated carcinoma1CTD_human
HgeneHIF1AC0205699Carcinomatosis1CTD_human
HgeneHIF1AC0205768Subependymal Giant Cell Astrocytoma1CTD_human
HgeneHIF1AC0206734Hemangioblastoma1CTD_human
HgeneHIF1AC0235527Heart Failure, Right-Sided1CTD_human
HgeneHIF1AC0235874Disease Exacerbation1CTD_human
HgeneHIF1AC0238065Secondary Biliary Cholangitis1CTD_human
HgeneHIF1AC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneHIF1AC0280783Juvenile Pilocytic Astrocytoma1CTD_human
HgeneHIF1AC0280785Diffuse Astrocytoma1CTD_human
HgeneHIF1AC0334579Anaplastic astrocytoma1CTD_human
HgeneHIF1AC0334580Protoplasmic astrocytoma1CTD_human
HgeneHIF1AC0334581Gemistocytic astrocytoma1CTD_human
HgeneHIF1AC0334582Fibrillary Astrocytoma1CTD_human
HgeneHIF1AC0334583Pilocytic Astrocytoma1CTD_human
HgeneHIF1AC0334588Giant Cell Glioblastoma1CTD_human
HgeneHIF1AC0338070Childhood Cerebral Astrocytoma1CTD_human
HgeneHIF1AC0342257Complications of Diabetes Mellitus1CTD_human
HgeneHIF1AC0346647Malignant neoplasm of pancreas1CTD_human
HgeneHIF1AC0376358Malignant neoplasm of prostate1CTD_human
HgeneHIF1AC0525045Mood Disorders1PSYGENET
HgeneHIF1AC0547065Mixed oligoastrocytoma1CTD_human
HgeneHIF1AC0549473Thyroid carcinoma1CTD_human
HgeneHIF1AC0566602Primary sclerosing cholangitis1CTD_human
HgeneHIF1AC0678222Breast Carcinoma1CTD_human
HgeneHIF1AC0750935Cerebral Astrocytoma1CTD_human
HgeneHIF1AC0750936Intracranial Astrocytoma1CTD_human
HgeneHIF1AC0751692Multiple Hemangioblastomas1CTD_human
HgeneHIF1AC0752304Hypoxic-Ischemic Encephalopathy1CTD_human
HgeneHIF1AC0752305Anoxic-Ischemic Encephalopathy1CTD_human
HgeneHIF1AC0752306Anoxia-Ischemia, Brain1CTD_human
HgeneHIF1AC0752307Anoxia-Ischemia, Cerebral1CTD_human
HgeneHIF1AC0752308Hypoxia-Ischemia, Brain1CTD_human
HgeneHIF1AC0917798Cerebral Ischemia1CTD_human
HgeneHIF1AC1176475Ductal Carcinoma1CTD_human
HgeneHIF1AC1257931Mammary Neoplasms, Human1CTD_human
HgeneHIF1AC1269683Major Depressive Disorder1PSYGENET
HgeneHIF1AC1332347Atypical Ductal Breast Hyperplasia1CTD_human
HgeneHIF1AC1383860Cardiac Hypertrophy1CTD_human
HgeneHIF1AC1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneHIF1AC1449862Micronuclei, Genotoxicant-Induced1CTD_human
HgeneHIF1AC1458155Mammary Neoplasms1CTD_human
HgeneHIF1AC1621958Glioblastoma Multiforme1CTD_human
HgeneHIF1AC1704230Grade I Astrocytoma1CTD_human
HgeneHIF1AC1800706Idiopathic Pulmonary Fibrosis1CTD_human
HgeneHIF1AC1959583Myocardial Failure1CTD_human
HgeneHIF1AC1961112Heart Decompensation1CTD_human
HgeneHIF1AC4551595Biliary Cirrhosis, Primary, 11CTD_human
HgeneHIF1AC4551637Erythrocytosis familial, 11GENOMICS_ENGLAND
HgeneHIF1AC4704874Mammary Carcinoma, Human1CTD_human
HgeneHIF1AC4721508Hamman-Rich Disease1CTD_human
HgeneHIF1AC4721509Usual Interstitial Pneumonia1CTD_human
HgeneHIF1AC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human
TgeneC1510460Orofaciodigital Syndrome I8GENOMICS_ENGLAND;UNIPROT
TgeneC2749019JOUBERT SYNDROME 10 (disorder)6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4277690Ciliopathies4CLINGEN;GENOMICS_ENGLAND
TgeneC1846175SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)3CTD_human;GENOMICS_ENGLAND
TgeneC0035334Retinitis Pigmentosa1GENOMICS_ENGLAND;ORPHANET
TgeneC0265251Oto-Palato-digital syndrome type 11CTD_human
TgeneC1419610RP23 gene1CTD_human;GENOMICS_ENGLAND