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Fusion gene ID: 6139 |
FusionGeneSummary for CD244_AHCYL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD244_AHCYL2 | Fusion gene ID: 6139 | Hgene | Tgene | Gene symbol | CD244 | AHCYL2 | Gene ID | 51744 | 23382 |
| Gene name | CD244 molecule | adenosylhomocysteinase like 2 | |
| Synonyms | 2B4|NAIL|NKR2B4|Nmrk|SLAMF4 | ADOHCYASE3|IRBIT2 | |
| Cytomap | 1q23.3 | 7q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | natural killer cell receptor 2B4CD244 molecule, natural killer cell receptor 2B4NK cell activation inducing ligand NAILNK cell activation-inducing ligandNK cell type I receptor protein 2B4SLAM family member 4h2B4signaling lymphocytic activation mol | adenosylhomocysteinase 3IP(3)Rs binding protein released with IP(3) 2S-adenosyl-L-homocysteine hydrolase 3S-adenosylhomocysteine hydrolase-like 2long-IRBITputative adenosylhomocysteinase 3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9BZW8 | Q96HN2 | |
| Ensembl transtripts involved in fusion gene | ENST00000368034, ENST00000368033, ENST00000322302, ENST00000368032, ENST00000481677, | ENST00000325006, ENST00000446544, ENST00000531335, ENST00000474594, ENST00000446212, ENST00000490911, ENST00000472554, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 5 X 5=175 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CD244 [Title/Abstract] AND AHCYL2 [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 | CD244 | GO:0002323 | natural killer cell activation involved in immune response | 11714776 |
| Hgene | CD244 | GO:0060732 | positive regulation of inositol phosphate biosynthetic process | 8376943 |
| Hgene | CD244 | GO:0071663 | positive regulation of granzyme B production | 11714776 |
| Hgene | CD244 | GO:1902715 | positive regulation of interferon-gamma secretion | 11714776 |
| Hgene | CD244 | GO:2000484 | positive regulation of interleukin-8 secretion | 8376943 |
| 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 | AW947006 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| * 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-3UTR | ENST00000368034 | ENST00000325006 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368034 | ENST00000446544 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368034 | ENST00000531335 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368034 | ENST00000474594 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368034 | ENST00000446212 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368034 | ENST00000490911 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368034 | ENST00000472554 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368033 | ENST00000325006 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368033 | ENST00000446544 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368033 | ENST00000531335 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368033 | ENST00000474594 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368033 | ENST00000446212 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368033 | ENST00000490911 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368033 | ENST00000472554 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000322302 | ENST00000325006 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000322302 | ENST00000446544 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000322302 | ENST00000531335 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000322302 | ENST00000474594 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000322302 | ENST00000446212 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000322302 | ENST00000490911 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000322302 | ENST00000472554 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368032 | ENST00000325006 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368032 | ENST00000446544 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368032 | ENST00000531335 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368032 | ENST00000474594 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000368032 | ENST00000446212 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368032 | ENST00000490911 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000368032 | ENST00000472554 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000481677 | ENST00000325006 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000481677 | ENST00000446544 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000481677 | ENST00000531335 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000481677 | ENST00000474594 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-3UTR | ENST00000481677 | ENST00000446212 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000481677 | ENST00000490911 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
| intron-intron | ENST00000481677 | ENST00000472554 | CD244 | chr1 | 160810825 | + | AHCYL2 | chr7 | 129069615 | - |
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FusionProtFeatures for CD244_AHCYL2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CD244 | AHCYL2 |
| Heterophilic receptor of the signaling lymphocyticactivation molecule (SLAM) family; its ligand is CD48. SLAMreceptors triggered by homo- or heterotypic cell-cell interactionsare modulating the activation and differentiation of a widevariety of immune cells and thus are involved in the regulationand interconnection of both innate and adaptive immune response.Activities are controlled by presence or absence of smallcytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Actsas activating natural killer (NK) cell receptor (PubMed:10359122,PubMed:8376943, PubMed:11714776). Activating function implicatesassociation with SH2D1A and FYN (PubMed:15713798). Downstreamingsignaling involves predominantly VAV1, and, to a lesser degree,INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1Ais proposed to be dependent on INPP5D and to a lesser extentPTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798).Stimulates NK cell cytotoxicity, production of IFN-gamma andgranule exocytosis (PubMed:8376943, PubMed:11714776). Optimalexpansion and activation of NK cells seems to be dependent on theengagement of CD244 with CD48 expressed on neighboring NK cells(By similarity). Acts as costimulator in NK activation byenhancing signals by other NK receptors such as NCR3 and NCR1(PubMed:10741393). At early stages of NK cell differentiation mayfunction as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved inthe regulation of CD8(+) T-cell proliferation; expression onactivated T-cells and binding to CD488 provides costimulatory-likefunction for neighboring T-cells (By similarity). Inhibitsinflammatory responses in dendritic cells (DCs) (By similarity).{ECO:0000250|UniProtKB:Q07763, ECO:0000269|PubMed:10359122,ECO:0000269|PubMed:10741393, ECO:0000269|PubMed:10934222,ECO:0000269|PubMed:11714776, ECO:0000269|PubMed:11917118,ECO:0000269|PubMed:8376943, ECO:0000305|PubMed:15713798}. | May regulate the electrogenic sodium/bicarbonatecotransporter SLC4A4 activity and Mg(2+)-sensitivity. On thecontrary of its homolog AHCYL1, does not regulate ITPR1sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).{ECO:0000250|UniProtKB:A6QLP2, ECO:0000269|PubMed:19220705}. |
| 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 CD244_AHCYL2 |
| 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 CD244_AHCYL2 |
| 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 CD244_AHCYL2 |
| 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 CD244_AHCYL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CD244 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | AHCYL2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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