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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:HIF1A-CD63 (FusionGDB2 ID:36335) |
Fusion Gene Summary for HIF1A-CD63 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HIF1A-CD63 | Fusion gene ID: 36335 | Hgene | Tgene | Gene symbol | HIF1A | CD63 | Gene ID | 3091 | 967 |
Gene name | hypoxia inducible factor 1 subunit alpha | CD63 molecule | |
Synonyms | HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 | LAMP-3|ME491|MLA1|OMA81H|TSPAN30 | |
Cytomap | 14q23.2 | 12q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | 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 | CD63 antigenCD63 antigen (melanoma 1 antigen)granulophysinlysosomal-associated membrane protein 3lysosome-associated membrane glycoprotein 3melanoma-associated antigen ME491melanoma-associated antigen MLA1ocular melanoma-associated antigentetraspa | |
Modification date | 20200329 | 20200327 | |
UniProtAcc | Q16665 | P08962 | |
Ensembl transtripts involved in fusion gene | ENST00000557206, ENST00000323441, ENST00000337138, ENST00000394997, ENST00000539097, ENST00000557538, | ENST00000257857, ENST00000420846, ENST00000546939, ENST00000548160, ENST00000548898, ENST00000549117, ENST00000550776, ENST00000552067, ENST00000552692, ENST00000552754, | |
Fusion gene scores | * DoF score | 14 X 11 X 10=1540 | 9 X 8 X 6=432 |
# samples | 24 | 9 | |
** MAII score | log2(24/1540*10)=-2.68182403997375 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/432*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HIF1A [Title/Abstract] AND CD63 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | HIF1A(62187177)-CD63(56122794), # 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) |
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 |
Hgene | HIF1A | GO:0001666 | response to hypoxia | 8756616|9887100|11782478|15261140|18419598 |
Hgene | HIF1A | GO:0006355 | regulation of transcription, DNA-templated | 11782478|15261140 |
Hgene | HIF1A | GO:0010468 | regulation of gene expression | 18419598 |
Hgene | HIF1A | GO:0010573 | vascular endothelial growth factor production | 12958148 |
Hgene | HIF1A | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
Hgene | HIF1A | GO:0010628 | positive regulation of gene expression | 15459207|24244340 |
Hgene | HIF1A | GO:0032364 | oxygen homeostasis | 16956324 |
Hgene | HIF1A | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148|8387214 |
Hgene | HIF1A | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148|9887100|25043030 |
Hgene | HIF1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
Hgene | HIF1A | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
Hgene | HIF1A | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 22735262 |
Hgene | HIF1A | GO:0071456 | cellular response to hypoxia | 11573933|19528298|20889502 |
Hgene | HIF1A | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19782034 |
Hgene | HIF1A | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 24899725 |
Tgene | CD63 | GO:0034613 | cellular protein localization | 15647390 |
Tgene | CD63 | GO:1901379 | regulation of potassium ion transmembrane transport | 15647390 |
Fusion gene breakpoints across HIF1A (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 CD63 (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 |
ChiTaRS5.0 | N/A | BP330336 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
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Fusion Gene ORF analysis for HIF1A-CD63 |
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 |
3UTR-5UTR | ENST00000557206 | ENST00000257857 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-5UTR | ENST00000557206 | ENST00000420846 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000546939 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000548160 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000548898 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000549117 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000550776 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000552067 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000552692 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
3UTR-intron | ENST00000557206 | ENST00000552754 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000323441 | ENST00000257857 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000323441 | ENST00000420846 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000337138 | ENST00000257857 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000337138 | ENST00000420846 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000394997 | ENST00000257857 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000394997 | ENST00000420846 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000539097 | ENST00000257857 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-5UTR | ENST00000539097 | ENST00000420846 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000546939 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000548160 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000548898 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000549117 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000550776 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000552067 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000552692 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000323441 | ENST00000552754 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000546939 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000548160 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000548898 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000549117 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000550776 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000552067 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000552692 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000337138 | ENST00000552754 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000546939 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000548160 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000548898 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000549117 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000550776 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000552067 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000552692 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000394997 | ENST00000552754 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000546939 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000548160 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000548898 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000549117 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000550776 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000552067 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000552692 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5CDS-intron | ENST00000539097 | ENST00000552754 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-5UTR | ENST00000557538 | ENST00000257857 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-5UTR | ENST00000557538 | ENST00000420846 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000546939 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000548160 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000548898 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000549117 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000550776 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000552067 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000552692 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
5UTR-intron | ENST00000557538 | ENST00000552754 | HIF1A | chr14 | 62187177 | + | CD63 | chr12 | 56122794 | - |
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 HIF1A-CD63 |
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 HIF1A-CD63 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:62187177/:56122794) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HIF1A | CD63 |
FUNCTION: Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory protein APEX1 seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia. {ECO:0000250|UniProtKB:Q61221, ECO:0000269|PubMed:11292861, ECO:0000269|PubMed:11566883, ECO:0000269|PubMed:15465032, ECO:0000269|PubMed:16543236, ECO:0000269|PubMed:16973622, ECO:0000269|PubMed:17610843, ECO:0000269|PubMed:19528298, ECO:0000269|PubMed:20624928, ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:9887100}.; FUNCTION: (Microbial infection) Upon infection by human coronavirus SARS-CoV-2, is required for induction of glycolysis in monocytes and the consequent proinflammatory state (PubMed:32697943). In monocytes, induces expression of ACE2 and cytokines such as IL1B, TNF, IL6, and interferons (PubMed:32697943). Promotes human coronavirus SARS-CoV-2 replication and monocyte inflammatory response (PubMed:32697943). {ECO:0000269|PubMed:32697943}. | FUNCTION: Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli. {ECO:0000269|PubMed:16917503, ECO:0000269|PubMed:21803846, ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:23632027, ECO:0000269|PubMed:24635319}. |
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 HIF1A-CD63 |
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-CD63 |
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 HIF1A-CD63 |
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 HIF1A-CD63 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |