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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:NDC80-HIF1A (FusionGDB2 ID:HG10403TG3091)

Fusion Gene Summary for NDC80-HIF1A

check button Fusion gene summary
Fusion gene informationFusion gene name: NDC80-HIF1A
Fusion gene ID: hg10403tg3091
HgeneTgene
Gene symbol

NDC80

HIF1A

Gene ID

10403

3091

Gene nameNDC80 kinetochore complex componenthypoxia inducible factor 1 subunit alpha
SynonymsHEC|HEC1|HsHec1|KNTC2|TID3|hsNDC80HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78
Cytomap('NDC80')('HIF1A')

18p11.32

14q23.2

Type of geneprotein-codingprotein-coding
Descriptionkinetochore protein NDC80 homologNDC80 homolog, kinetochore complex componentNDC80 kinetochore complex component homologhighly expressed in cancer proteinhighly expressed in cancer, rich in leucine heptad repeatskinetochore associated 2kinetochore phypoxia-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
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261597, 
Fusion gene scores* DoF score6 X 6 X 6=2167 X 7 X 3=147
# samples 67
** MAII scorelog2(6/216*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDC80 [Title/Abstract] AND HIF1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNDC80(2577356)-HIF1A(62211423), # samples:4
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
TgeneHIF1A

GO:0001666

response to hypoxia

8756616|9887100|11782478|15261140|18419598

TgeneHIF1A

GO:0006355

regulation of transcription, DNA-templated

11782478|15261140

TgeneHIF1A

GO:0010468

regulation of gene expression

18419598

TgeneHIF1A

GO:0010573

vascular endothelial growth factor production

12958148

TgeneHIF1A

GO:0010575

positive regulation of vascular endothelial growth factor production

8756616

TgeneHIF1A

GO:0010628

positive regulation of gene expression

15459207|24244340

TgeneHIF1A

GO:0032364

oxygen homeostasis

16956324

TgeneHIF1A

GO:0043619

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

8089148|8387214

TgeneHIF1A

GO:0045893

positive regulation of transcription, DNA-templated

8089148|9887100|25043030

TgeneHIF1A

GO:0045944

positive regulation of transcription by RNA polymerase II

11573933

TgeneHIF1A

GO:0046886

positive regulation of hormone biosynthetic process

1448077

TgeneHIF1A

GO:0061419

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

22735262

TgeneHIF1A

GO:0071456

cellular response to hypoxia

11573933|19528298|20889502

TgeneHIF1A

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19782034

TgeneHIF1A

GO:1903377

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

24899725



check button Fusion gene information
* 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
ChimerDB4STADTCGA-BR-4370-01ANDC80chr18

2577356

+HIF1Achr14

62211423

+
ChimerDB4STADTCGA-BR-A4PD-01ANDC80chr18

2577356

+HIF1Achr14

62211423

+
ChimerDB4STADTCGA-BR-A4PE-01ANDC80chr18

2577356

+HIF1Achr14

62211423

+
ChimerDB4UCECTCGA-EY-A2OQ-01ANDC80chr18

2577356

+HIF1Achr14

62211423

+


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Fusion Gene ORF analysis for NDC80-HIF1A

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-3CDSENST00000261597ENST00000323441NDC80chr18

2577356

+HIF1Achr14

62211423

+
intron-3CDSENST00000261597ENST00000337138NDC80chr18

2577356

+HIF1Achr14

62211423

+
intron-3CDSENST00000261597ENST00000394997NDC80chr18

2577356

+HIF1Achr14

62211423

+
intron-3CDSENST00000261597ENST00000539097NDC80chr18

2577356

+HIF1Achr14

62211423

+
intron-3CDSENST00000261597ENST00000557538NDC80chr18

2577356

+HIF1Achr14

62211423

+
intron-intronENST00000261597ENST00000557206NDC80chr18

2577356

+HIF1Achr14

62211423

+

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 NDC80-HIF1A


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 NDC80-HIF1A


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/:2577356/:62211423)
- 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 NDC80-HIF1A


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 NDC80-HIF1A


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 NDC80-HIF1A


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 NDC80-HIF1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDC80C2239176Liver carcinoma1CTD_human
TgeneC0027055Myocardial Reperfusion Injury2CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0002793Anaplasia1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007124Noninfiltrating Intraductal Carcinoma1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0008312Primary biliary cirrhosis1CTD_human
TgeneC0008313Cholangitis, Sclerosing1CTD_human
TgeneC0011570Mental Depression1PSYGENET
TgeneC0017636Glioblastoma1CTD_human
TgeneC0018798Congenital Heart Defects1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0020507Hyperplasia1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0020542Pulmonary Hypertension1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023892Biliary cirrhosis1CTD_human
TgeneC0024115Lung diseases1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0040136Thyroid Neoplasm1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0178540Cerebral Hypoxia-Ischemia1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0206734Hemangioblastoma1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0238065Secondary Biliary Cholangitis1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0342257Complications of Diabetes Mellitus1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0525045Mood Disorders1PSYGENET
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0549473Thyroid carcinoma1CTD_human
TgeneC0566602Primary sclerosing cholangitis1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0751692Multiple Hemangioblastomas1CTD_human
TgeneC0752304Hypoxic-Ischemic Encephalopathy1CTD_human
TgeneC0752305Anoxic-Ischemic Encephalopathy1CTD_human
TgeneC0752306Anoxia-Ischemia, Brain1CTD_human
TgeneC0752307Anoxia-Ischemia, Cerebral1CTD_human
TgeneC0752308Hypoxia-Ischemia, Brain1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC1176475Ductal Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1332347Atypical Ductal Breast Hyperplasia1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1449861Micronuclei, Chromosome-Defective1CTD_human
TgeneC1449862Micronuclei, Genotoxicant-Induced1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1800706Idiopathic Pulmonary Fibrosis1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC4551595Biliary Cirrhosis, Primary, 11CTD_human
TgeneC4551637Erythrocytosis familial, 11GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721508Hamman-Rich Disease1CTD_human
TgeneC4721509Usual Interstitial Pneumonia1CTD_human
TgeneC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human