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Fusion gene ID: 16388 |
FusionGeneSummary for HLA-E_NR2C2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HLA-E_NR2C2 | Fusion gene ID: 16388 | Hgene | Tgene | Gene symbol | HLA-E | NR2C2 | Gene ID | 3133 | 7182 |
| Gene name | major histocompatibility complex, class I, E | nuclear receptor subfamily 2 group C member 2 | |
| Synonyms | HLA-6.2|QA1 | TAK1|TR4 | |
| Cytomap | 6p22.1 | 3p25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | HLA class I histocompatibility antigen, alpha chain EMHC class I antigen EMHC class Ib antigen | nuclear receptor subfamily 2 group C member 2Nuclear hormone receptor TR4orphan nuclear receptor TAK1orphan nuclear receptor TR4orphan receptor TR4testicular nuclear receptor 4 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P13747 | P49116 | |
| Ensembl transtripts involved in fusion gene | ENST00000376630, ENST00000415649, ENST00000415289, ENST00000444683, ENST00000383597, ENST00000425603, ENST00000427936, | ENST00000425241, ENST00000323373, ENST00000393102, ENST00000406272, ENST00000478572, | |
| Fusion gene scores | * DoF score | 7 X 6 X 1=42 | 6 X 6 X 2=72 |
| # samples | 8 | 6 | |
| ** MAII score | log2(8/42*10)=0.929610672108602 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HLA-E [Title/Abstract] AND NR2C2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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-E | GO:0001916 | positive regulation of T cell mediated cytotoxicity | 25631937 |
| Hgene | HLA-E | GO:0002250 | adaptive immune response | 25631937 |
| Hgene | HLA-E | GO:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib | 9754572 |
| Hgene | HLA-E | GO:0002715 | regulation of natural killer cell mediated immunity | 18448674 |
| Hgene | HLA-E | GO:0002717 | positive regulation of natural killer cell mediated immunity | 9754572 |
| Hgene | HLA-E | GO:0019731 | antibacterial humoral response | 25631937 |
| Hgene | HLA-E | GO:0032736 | positive regulation of interleukin-13 production | 25631937 |
| Hgene | HLA-E | GO:0032753 | positive regulation of interleukin-4 production | 25631937 |
| Hgene | HLA-E | GO:0032759 | positive regulation of TRAIL production | 25631937 |
| Hgene | HLA-E | GO:0032760 | positive regulation of tumor necrosis factor production | 25631937 |
| Hgene | HLA-E | GO:0036037 | CD8-positive, alpha-beta T cell activation | 25631937 |
| Hgene | HLA-E | GO:0042270 | protection from natural killer cell mediated cytotoxicity | 9754572|25631937 |
| Hgene | HLA-E | GO:0050830 | defense response to Gram-positive bacterium | 25631937 |
| Hgene | HLA-E | GO:0051024 | positive regulation of immunoglobulin secretion | 25631937 |
| Hgene | HLA-E | GO:2000566 | positive regulation of CD8-positive, alpha-beta T cell proliferation | 25631937 |
| Tgene | NR2C2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9556573|10644740 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BG399500 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000376630 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000376630 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000376630 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000376630 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-intron | ENST00000376630 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415649 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415649 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415649 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415649 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-intron | ENST00000415649 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415289 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415289 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415289 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000415289 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-intron | ENST00000415289 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000444683 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000444683 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000444683 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000444683 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-intron | ENST00000444683 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000383597 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000383597 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000383597 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000383597 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-intron | ENST00000383597 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000425603 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000425603 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000425603 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-3CDS | ENST00000425603 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| intron-intron | ENST00000425603 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| 3UTR-3CDS | ENST00000427936 | ENST00000425241 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| 3UTR-3CDS | ENST00000427936 | ENST00000323373 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| 3UTR-3CDS | ENST00000427936 | ENST00000393102 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| 3UTR-3CDS | ENST00000427936 | ENST00000406272 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
| 3UTR-intron | ENST00000427936 | ENST00000478572 | HLA-E | chr6 | 1793307 | + | NR2C2 | chr3 | 15045436 | - |
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FusionProtFeatures for HLA-E_NR2C2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HLA-E | NR2C2 |
| Preferably binds to a peptide derived from the signalsequence of most HLA-A, -B, -C and -G molecules. | Orphan nuclear receptor that can act as a repressor oractivator of transcription. An important repressor of nuclearreceptor signaling pathways such as retinoic acid receptor,retinoid X, vitamin D3 receptor, thyroid hormone receptor andestrogen receptor pathways. May regulate gene expression duringthe late phase of spermatogenesis. Together with NR2C1, forms thecore of the DRED (direct repeat erythroid-definitive) complex thatrepresses embryonic and fetal globin transcription including thatof GATA1. Binds to hormone response elements (HREs) consisting oftwo 5'-AGGTCA-3' half site direct repeat consensus sequences.Plays a fundamental role in early embryonic development andembryonic stem cells. Required for normal spermatogenesis andcerebellum development. Appears to be important forneurodevelopmentally regulated behavior (By similarity). Activatestranscriptional activity of LHCG. Antagonist of PPARA-mediatedtransactivation. {ECO:0000250, ECO:0000269|PubMed:10347174,ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:17974920,ECO:0000269|PubMed:7779113, ECO:0000269|PubMed:9556573}. |
| 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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FusionGeneSequence for HLA-E_NR2C2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for HLA-E_NR2C2 |
| 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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RelatedDrugs for HLA-E_NR2C2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HLA-E_NR2C2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HLA-E | C0036341 | Schizophrenia | 5 | PSYGENET |
| Hgene | HLA-E | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | HLA-E | C0030491 | Parapsoriasis | 1 | CTD_human |
| Hgene | HLA-E | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | HLA-E | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | NR2C2 | C0014175 | Endometriosis | 1 | CTD_human |
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