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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:NDC80-HIF1A (FusionGDB2 ID:57912) |
Fusion Gene Summary for NDC80-HIF1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDC80-HIF1A | Fusion gene ID: 57912 | Hgene | Tgene | Gene symbol | NDC80 | HIF1A | Gene ID | 10403 | 3091 |
| Gene name | NDC80 kinetochore complex component | hypoxia inducible factor 1 subunit alpha | |
| Synonyms | HEC|HEC1|HsHec1|KNTC2|TID3|hsNDC80 | HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 | |
| Cytomap | 18p11.32 | 14q23.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kinetochore 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 p | hypoxia-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 date | 20200327 | 20200329 | |
| UniProtAcc | O14777 | Q9NWT6 | |
| Ensembl transtripts involved in fusion gene | ENST00000261597, | ENST00000323441, ENST00000337138, ENST00000394997, ENST00000539097, ENST00000557538, ENST00000557206, | |
| Fusion gene scores | * DoF score | 6 X 6 X 6=216 | 7 X 7 X 3=147 |
| # samples | 6 | 7 | |
| ** MAII score | log2(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 breakpoint | NDC80(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | HIF1A | GO:0001666 | response to hypoxia | 8756616|9887100|11782478|15261140|18419598 |
| Tgene | HIF1A | GO:0006355 | regulation of transcription, DNA-templated | 11782478|15261140 |
| Tgene | HIF1A | GO:0010468 | regulation of gene expression | 18419598 |
| Tgene | HIF1A | GO:0010573 | vascular endothelial growth factor production | 12958148 |
| Tgene | HIF1A | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
| Tgene | HIF1A | GO:0010628 | positive regulation of gene expression | 15459207|24244340 |
| Tgene | HIF1A | GO:0032364 | oxygen homeostasis | 16956324 |
| Tgene | HIF1A | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148|8387214 |
| Tgene | HIF1A | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148|9887100|25043030 |
| Tgene | HIF1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
| Tgene | HIF1A | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
| Tgene | HIF1A | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 22735262 |
| Tgene | HIF1A | GO:0071456 | cellular response to hypoxia | 11573933|19528298|20889502 |
| Tgene | HIF1A | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19782034 |
| Tgene | HIF1A | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 24899725 |
| Fusion gene breakpoints across NDC80 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across HIF1A (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-BR-4370-01A | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| ChimerDB4 | STAD | TCGA-BR-A4PD-01A | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| ChimerDB4 | STAD | TCGA-BR-A4PE-01A | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| ChimerDB4 | UCEC | TCGA-EY-A2OQ-01A | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
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Fusion Gene ORF analysis for NDC80-HIF1A |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000261597 | ENST00000323441 | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| intron-3CDS | ENST00000261597 | ENST00000337138 | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| intron-3CDS | ENST00000261597 | ENST00000394997 | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| intron-3CDS | ENST00000261597 | ENST00000539097 | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| intron-3CDS | ENST00000261597 | ENST00000557538 | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| intron-intron | ENST00000261597 | ENST00000557206 | NDC80 | chr18 | 2577356 | + | HIF1A | chr14 | 62211423 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NDC80-HIF1A |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution 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 NDC80-HIF1A |
| 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NDC80 | HIF1A |
| FUNCTION: Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:9315664, PubMed:12351790, PubMed:14654001, PubMed:14699129, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:16732327). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:15548592). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020). Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules (PubMed:25743205, PubMed:23891108). {ECO:0000269|PubMed:12351790, ECO:0000269|PubMed:14654001, ECO:0000269|PubMed:14699129, ECO:0000269|PubMed:15062103, ECO:0000269|PubMed:15235793, ECO:0000269|PubMed:15239953, ECO:0000269|PubMed:15548592, ECO:0000269|PubMed:16732327, ECO:0000269|PubMed:23085020, ECO:0000269|PubMed:23891108, ECO:0000269|PubMed:25743205, ECO:0000269|PubMed:9315664}. | FUNCTION: Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation. {ECO:0000269|PubMed:12042299, ECO:0000269|PubMed:12080085, ECO:0000269|PubMed:17003112, ECO:0000269|PubMed:17573339, ECO:0000269|PubMed:18299578, ECO:0000269|PubMed:19245366, ECO:0000269|PubMed:21177872, ECO:0000269|PubMed:21251231}. |
| Retention 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 * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for NDC80-HIF1A |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NDC80-HIF1A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NDC80-HIF1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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