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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:HLA-A-EPAS1 (FusionGDB2 ID:36608)

Fusion Gene Summary for HLA-A-EPAS1

Fusion gene summary

Fusion gene information	Fusion gene name: HLA-A-EPAS1
	Fusion gene ID: 36608
		Hgene	Tgene
	Gene symbol	HLA-A	EPAS1
	Gene ID	3105	2034
	Gene name	major histocompatibility complex, class I, A	endothelial PAS domain protein 1
	Synonyms	HLAA	ECYT4\|HIF2A\|HLF\|MOP2\|PASD2\|bHLHe73
	Cytomap	6p22.1	2p21
	Type of gene	protein-coding	protein-coding
	Description	HLA class I histocompatibility antigen, A alpha chainHLA class I histocompatibility antigen, A-1 alpha chainMHC class I antigen HLA-A heavy chainleukocyte antigen class I-A	endothelial PAS domain-containing protein 1EPAS-1HIF-1-alpha-like factorHIF-1alpha-like factorHIF-2-alphaHIF2-alphaPAS domain-containing protein 2basic-helix-loop-helix-PAS protein MOP2class E basic helix-loop-helix protein 73hypoxia-inducible fa
	Modification date	20200328	20200313
	UniProtAcc	P04439	Q99814
	Ensembl transtripts involved in fusion gene	ENST00000376802, ENST00000376806, ENST00000376809, ENST00000396634, ENST00000376822, ENST00000383605, ENST00000383619, ENST00000414592, ENST00000416096, ENST00000417978, ENST00000431930, ENST00000438861, ENST00000442939, ENST00000443552, ENST00000444289, ENST00000450342, ENST00000453975, ENST00000454091, ENST00000456012, ENST00000457879, ENST00000488889, ENST00000547112, ENST00000547271, ENST00000547522, ENST00000549224, ENST00000549869, ENST00000550728, ENST00000551120, ENST00000551578, ENST00000552193, ENST00000552493, ENST00000552498,	ENST00000263734, ENST00000467888,
Fusion gene scores	* DoF score	11 X 11 X 3=363	11 X 10 X 5=550
	# samples	11	11
	** MAII score	log2(11/363*10)=-1.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/550*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HLA-A [Title/Abstract] AND EPAS1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HLA-A(29913464)-EPAS1(46602976), # 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	HLA-A	GO:0001913	T cell mediated cytotoxicity	7504010
Hgene	HLA-A	GO:0002419	T cell mediated cytotoxicity directed against tumor cell target	1402688\|17189421\|20364150
Hgene	HLA-A	GO:0002726	positive regulation of T cell cytokine production	24643698
Hgene	HLA-A	GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	1402688\|20364150\|24643698
Hgene	HLA-A	GO:0036037	CD8-positive, alpha-beta T cell activation	1402688\|2784196\|7504010\|8630735\|12138174\|17189421\|20364150
Hgene	HLA-A	GO:0042590	antigen processing and presentation of exogenous peptide antigen via MHC class I	7504010\|12138174
Hgene	HLA-A	GO:0050852	T cell receptor signaling pathway	10435578
Hgene	HLA-A	GO:2001187	positive regulation of CD8-positive, alpha-beta T cell activation	24643698
Tgene	EPAS1	GO:0001666	response to hypoxia	11782478
Tgene	EPAS1	GO:0045944	positive regulation of transcription by RNA polymerase II	11573933
Tgene	EPAS1	GO:0071456	cellular response to hypoxia	11573933

Fusion gene breakpoints across HLA-A (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 EPAS1 (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	AI283561	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-

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Fusion Gene ORF analysis for HLA-A-EPAS1

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-intron	ENST00000376802	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000376802	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000376806	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000376806	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000376809	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000376809	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000396634	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
3UTR-intron	ENST00000396634	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000376822	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000376822	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000383605	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000383605	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000383619	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000383619	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000414592	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000414592	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000416096	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000416096	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000417978	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000417978	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000431930	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000431930	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000438861	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000438861	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000442939	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000442939	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000443552	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000443552	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000444289	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000444289	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000450342	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000450342	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000453975	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000453975	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000454091	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000454091	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000456012	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000456012	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000457879	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000457879	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000488889	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000488889	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000547112	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000547112	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000547271	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000547271	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000547522	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000547522	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000549224	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000549224	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000549869	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000549869	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000550728	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000550728	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000551120	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000551120	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000551578	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000551578	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000552193	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000552193	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000552493	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000552493	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000552498	ENST00000263734	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-
intron-intron	ENST00000552498	ENST00000467888	HLA-A	chr6	29913464	-	EPAS1	chr2	46602976	-

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 HLA-A-EPAS1

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 HLA-A-EPAS1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:29913464/:46602976)
- 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
HLA-A P04439	EPAS1 Q99814
FUNCTION: Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:2456340, PubMed:2784196, PubMed:1402688, PubMed:7504010, PubMed:9862734, PubMed:10449296, PubMed:12138174, PubMed:12393434, PubMed:15893615, PubMed:17189421, PubMed:19543285, PubMed:21498667, PubMed:24192765, PubMed:7694806, PubMed:24395804, PubMed:28250417). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity (PubMed:25880248, PubMed:7506728, PubMed:7679507). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:12796775, PubMed:18275829, PubMed:19542454, PubMed:28250417). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome or via endopeptidase IDE/insulin-degrading enzyme (PubMed:17189421, PubMed:20364150, PubMed:17079320, PubMed:26929325, PubMed:27049119). Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:7504010, PubMed:9862734). {ECO:0000269\|PubMed:10449296, ECO:0000269\|PubMed:12138174, ECO:0000269\|PubMed:12393434, ECO:0000269\|PubMed:12796775, ECO:0000269\|PubMed:1402688, ECO:0000269\|PubMed:15893615, ECO:0000269\|PubMed:17079320, ECO:0000269\|PubMed:17189421, ECO:0000269\|PubMed:18275829, ECO:0000269\|PubMed:19542454, ECO:0000269\|PubMed:19543285, ECO:0000269\|PubMed:20364150, ECO:0000269\|PubMed:21498667, ECO:0000269\|PubMed:24192765, ECO:0000269\|PubMed:24395804, ECO:0000269\|PubMed:2456340, ECO:0000269\|PubMed:25880248, ECO:0000269\|PubMed:26929325, ECO:0000269\|PubMed:27049119, ECO:0000269\|PubMed:2784196, ECO:0000269\|PubMed:28250417, ECO:0000269\|PubMed:7504010, ECO:0000269\|PubMed:7506728, ECO:0000269\|PubMed:7679507, ECO:0000269\|PubMed:7694806, ECO:0000269\|PubMed:9862734}.; FUNCTION: Allele A01:01: Presents a restricted peptide repertoire including viral epitopes derived from IAV NP/nucleoprotein (CTELKLSDY), IAV PB1/polymerase basic protein 1 (VSDGGPNLY), HAdV-11 capsid L3/hexon protein (LTDLGQNLLY), SARS-CoV-2 3a/ORF3a (FTSDYYQLY) as well as tumor peptide antigens including MAGE1 (EADPTGHSY), MAGEA3 (EVDPIGHLY) and WT1 (TSEKRPFMCAY), all having in common a canonical motif with a negatively charged Asp or Glu residue at position 3 and a Tyr anchor residue at the C-terminus (PubMed:1402688, PubMed:7504010, PubMed:17189421, PubMed:20364150, PubMed:25880248, PubMed:30530481, PubMed:19177349, PubMed:24395804, PubMed:26758806, PubMed:32887977). A number of HLA-A01:01-restricted peptides carry a post-translational modification with oxidation and N-terminal acetylation being the most frequent (PubMed:25880248). Fails to present highly immunogenic peptides from the EBV latent antigens (PubMed:18779413). {ECO:0000269\|PubMed:1402688, ECO:0000269\|PubMed:17189421, ECO:0000269\|PubMed:18779413, ECO:0000269\|PubMed:19177349, ECO:0000269\|PubMed:20364150, ECO:0000269\|PubMed:24395804, ECO:0000269\|PubMed:25880248, ECO:0000269\|PubMed:26758806, ECO:0000269\|PubMed:30530481, ECO:0000269\|PubMed:7504010}.; FUNCTION: Allele A02:01: A major allele in human populations, presents immunodominant viral epitopes derived from IAV M/matrix protein 1 (GILGFVFTL), HIV-1 env (TLTSCNTSV), HIV-1 gag-pol (ILKEPVHGV), HTLV-1 Tax (LLFGYPVYV), HBV C/core antigen (FLPSDFFPS), HCMV UL83/pp65 (NLVPMVATV) as well as tumor peptide antigens including MAGEA4 (GVYDGREHTV), WT1 (RMFPNAPYL) and CTAG1A/NY-ESO-1 (SLLMWITQC), all having in common hydrophobic amino acids at position 2 and at the C-terminal anchors. {ECO:0000269\|PubMed:11502003, ECO:0000269\|PubMed:12138174, ECO:0000269\|PubMed:12796775, ECO:0000269\|PubMed:17079320, ECO:0000269\|PubMed:18275829, ECO:0000269\|PubMed:19542454, ECO:0000269\|PubMed:20619457, ECO:0000269\|PubMed:22245737, ECO:0000269\|PubMed:26929325, ECO:0000269\|PubMed:2784196, ECO:0000269\|PubMed:28250417, ECO:0000269\|PubMed:7694806, ECO:0000269\|PubMed:7935798, ECO:0000269\|PubMed:8630735, ECO:0000269\|PubMed:8805302, ECO:0000269\|PubMed:8906788, ECO:0000269\|PubMed:9177355}.; FUNCTION: Allele A03:01: Presents viral epitopes derived from IAV NP (ILRGSVAHK), HIV-1 nef (QVPLRPMTYK), HIV-1 gag-pol (AIFQSSMTK), SARS-CoV-2 N/nucleoprotein (KTFPPTEPK) as well as tumor peptide antigens including PMEL (LIYRRRLMK), NODAL (HAYIQSLLK), TRP-2 (RMYNMVPFF), all having in common hydrophobic amino acids at position 2 and Lys or Arg anchor residues at the C-terminus (PubMed:7504010, PubMed:7679507, PubMed:9862734, PubMed:19543285, PubMed:21943705, PubMed:2456340, PubMed:32887977). May also display spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119). {ECO:0000269\|PubMed:19543285, ECO:0000269\|PubMed:21943705, ECO:0000269\|PubMed:2456340, ECO:0000269\|PubMed:27049119, ECO:0000269\|PubMed:7504010, ECO:0000269\|PubMed:7679507, ECO:0000269\|PubMed:9862734}.; FUNCTION: Allele A11:01: Presents several immunodominant epitopes derived from HIV-1 gag-pol and HHV-4 EBNA4, containing the peptide motif with Val, Ile, Thr, Leu, Tyr or Phe at position 2 and Lys anchor residue at the C-terminus. Important in the control of HIV-1, EBV and HBV infections (PubMed:10449296). Presents an immunodominant epitope derived from SARS-CoV-2 N/nucleoprotein (KTFPPTEPK) (PubMed:32887977). {ECO:0000269\|PubMed:10449296, ECO:0000269\|PubMed:32887977}.; FUNCTION: Allele A23:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response. {ECO:0000269\|PubMed:17182537}.; FUNCTION: Allele A24:02: Presents viral epitopes derived from HIV-1 nef (RYPLTFGWCF), EBV lytic- and latent-cycle antigens BRLF1 (TYPVLEEMF), BMLF1 (DYNFVKQLF) and LMP2 (IYVLVMLVL), SARS-CoV nucleocapsid/N (QFKDNVILL), as well as tumor peptide antigens including PRAME (LYVDSLFFL), all sharing a common signature motif, namely an aromatic residue Tyr or Phe at position 2 and a nonhydrophobic anchor residue Phe, Leu or Iso at the C-terminus (PubMed:9047241, PubMed:12393434, PubMed:24192765, PubMed:20844028). Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response (PubMed:17182537, PubMed:18502829). {ECO:0000269\|PubMed:12393434, ECO:0000269\|PubMed:17182537, ECO:0000269\|PubMed:18502829, ECO:0000269\|PubMed:20844028, ECO:0000269\|PubMed:24192765, ECO:0000269\|PubMed:9047241}.; FUNCTION: Allele A26:01: Presents several epitopes derived from HIV-1 gag-pol (EVIPMFSAL, ETKLGKAGY) and env (LVSDGGPNLY), carrying as anchor residues preferentially Glu at position 1, Val or Thr at position 2 and Tyr at the C-terminus. {ECO:0000269\|PubMed:15893615}.; FUNCTION: Allele A29:02: Presents peptides having a common motif, namely a Glu residue at position 2 and Tyr or Leu anchor residues at the C-terminus. {ECO:0000269\|PubMed:8622959}.; FUNCTION: Allele A32:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response. {ECO:0000269\|PubMed:17182537}.; FUNCTION: Allele A68:01: Presents viral epitopes derived from IAV NP (KTGGPIYKR) and HIV-1 tat (ITKGLGISYGR), having a common signature motif namely, Val or Thr at position 2 and positively charged residues Arg or Lys at the C-terminal anchor. {ECO:0000269\|PubMed:1448153, ECO:0000269\|PubMed:1448154, ECO:0000269\|PubMed:2784196}.; FUNCTION: Allele A74:01: Presents immunodominant HIV-1 epitopes derived from gag-pol (GQMVHQAISPR, QIYPGIKVR) and rev (RQIHSISER), carrying an aliphatic residue at position 2 and Arg anchor residue at the C-terminus. May contribute to viral load control in chronic HIV-1 infection. {ECO:0000269\|PubMed:21498667}.	FUNCTION: Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity). {ECO:0000250, ECO:0000250\|UniProtKB:P97481}.

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
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.

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 HLA-A-EPAS1

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 HLA-A-EPAS1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

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 HLA-A-EPAS1

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 HLA-A-EPAS1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source