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Fusion gene ID: 4373 |
FusionGeneSummary for BRAP_KLRB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BRAP_KLRB1 | Fusion gene ID: 4373 | Hgene | Tgene | Gene symbol | BRAP | KLRB1 | Gene ID | 221477 | 3820 |
| Gene name | chromosome 6 open reading frame 89 | killer cell lectin like receptor B1 | |
| Synonyms | BRAP|PS1TP5TP1 | CD161|CLEC5B|NKR|NKR-P1|NKR-P1A|NKRP1A|hNKR-P1A | |
| Cytomap | 6p21.2 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bombesin receptor-activated protein C6orf89amfion | killer cell lectin-like receptor subfamily B member 1C-type lectin domain family 5 member Bkiller cell lectin-like receptor subfamily B, member 1natural killer cell surface protein P1A | |
| Modification date | 20180519 | 20180329 | |
| UniProtAcc | Q7Z569 | Q12918 | |
| Ensembl transtripts involved in fusion gene | ENST00000419234, ENST00000539060, ENST00000327551, | ENST00000229402, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: BRAP [Title/Abstract] AND KLRB1 [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 | BRAP | GO:0042060 | wound healing | 21857995 |
| Hgene | BRAP | GO:0045787 | positive regulation of cell cycle | 21857995 |
| Hgene | BRAP | GO:0050673 | epithelial cell proliferation | 21857995 |
| Hgene | BRAP | GO:1901727 | positive regulation of histone deacetylase activity | 23460338 |
| 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 |
| TCGA | RV | LGG | TCGA-RY-A83Z-01A | BRAP | chr12 | 112123515 | - | KLRB1 | chr12 | 9754195 | - |
| * 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 |
| Frame-shift | ENST00000419234 | ENST00000229402 | BRAP | chr12 | 112123515 | - | KLRB1 | chr12 | 9754195 | - |
| intron-3CDS | ENST00000539060 | ENST00000229402 | BRAP | chr12 | 112123515 | - | KLRB1 | chr12 | 9754195 | - |
| intron-3CDS | ENST00000327551 | ENST00000229402 | BRAP | chr12 | 112123515 | - | KLRB1 | chr12 | 9754195 | - |
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FusionProtFeatures for BRAP_KLRB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BRAP | KLRB1 |
| Negatively regulates MAP kinase activation by limitingthe formation of Raf/MEK complexes probably by inactivation of theKSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitinligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition ofRaf/MEK complex formation. May also act as a cytoplasmic retentionprotein with a role in regulating nuclear transport.{ECO:0000269|PubMed:14724641, ECO:0000303|PubMed:10777491}. | Plays an inhibitory role on natural killer (NK) cellscytotoxicity. Activation results in specific acidsphingomyelinase/SMPD1 stimulation with subsequent markedelevation of intracellular ceramide. Activation also leads toAKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedlyenhanced T-cell proliferation induced by anti-CD3. Acts as alectin that binds to the terminal carbohydrate Gal-alpha(1,3)Galepitope as well as to the N-acetyllactosamine epitope. Binds alsoto CLEC2D/LLT1 as a ligand and inhibits NK cell-mediatedcytotoxicity as well as interferon-gamma secretion in targetcells. {ECO:0000269|PubMed:16455998, ECO:0000269|PubMed:16925668,ECO:0000269|PubMed:8077657}. |
| 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 BRAP_KLRB1 |
| 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 BRAP_KLRB1 |
| 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 |
| BRAP | BRCA1, CDC14A, UBE2H, TWIST1, CDKN1A, HRAS, CUL2, IKBKB, NFKBIB, MAP2K1, BRAF, KSR1, RAF1, USP4, USP15, NEDD8, BRAP, CUL1, TRIM55, TRIM41, TRIM8, UBC, HMG20A, NUMA1, SYNE2, KLHDC3, SPRTN, ZNF526, EFHC1, UBB, APOA1, BRK1, CCDC105, SHCBP1L, TEX35, DNMT1, PHLPP1, FAM184A, FBXO2, LINC00852, ZNF382, ZNF479, AKAP3, TANC2, RBM12, ATMIN, CCDC30, SMARCE1, ZNF521, SERPINB13, PRODH | KLRB1 |
| - 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 BRAP_KLRB1 |
| 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 BRAP_KLRB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BRAP | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | BRAP | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | KLRB1 | C0025202 | melanoma | 1 | CTD_human |
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