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Fusion gene ID: 7602 |
FusionGeneSummary for CMPK1_SH2D1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CMPK1_SH2D1B | Fusion gene ID: 7602 | Hgene | Tgene | Gene symbol | CMPK1 | SH2D1B | Gene ID | 51727 | 117157 |
| Gene name | cytidine/uridine monophosphate kinase 1 | SH2 domain containing 1B | |
| Synonyms | CK|CMK|CMPK|UMK|UMP-CMPK|UMPK | EAT2 | |
| Cytomap | 1p33 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | UMP-CMP kinaseUMP/CMP kinasecytidine monophosphate (UMP-CMP) kinase 1, cytosoliccytidylate kinasedCMP kinasedeoxycytidylate kinasenucleoside-diphosphate kinaseuridine monophosphate kinaseuridine monophosphate/cytidine monophosphate kinase | SH2 domain-containing protein 1BEAT-2EWS/FLI1-activated transcript 2SH2 domain-containing molecule EAT2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P30085 | O14796 | |
| Ensembl transtripts involved in fusion gene | ENST00000371873, ENST00000450808, ENST00000471289, | ENST00000367929, ENST00000359567, ENST00000493550, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 4 X 4 X 3=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CMPK1 [Title/Abstract] AND SH2D1B [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 | CMPK1 | GO:0006165 | nucleoside diphosphate phosphorylation | 23416111 |
| Hgene | CMPK1 | GO:0009142 | nucleoside triphosphate biosynthetic process | 23416111 |
| 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 | BRCA | TCGA-A8-A06N-01A | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| * 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 | ENST00000371873 | ENST00000367929 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| Frame-shift | ENST00000371873 | ENST00000359567 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| 5CDS-5UTR | ENST00000371873 | ENST00000493550 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| Frame-shift | ENST00000450808 | ENST00000367929 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| Frame-shift | ENST00000450808 | ENST00000359567 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| 5CDS-5UTR | ENST00000450808 | ENST00000493550 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| Frame-shift | ENST00000471289 | ENST00000367929 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| Frame-shift | ENST00000471289 | ENST00000359567 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
| 5CDS-5UTR | ENST00000471289 | ENST00000493550 | CMPK1 | chr1 | 47799788 | + | SH2D1B | chr1 | 162372592 | - |
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FusionProtFeatures for CMPK1_SH2D1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CMPK1 | SH2D1B |
| Catalyzes the phosphorylation of pyrimidine nucleosidemonophosphates at the expense of ATP. Plays an important role inde novo pyrimidine nucleotide biosynthesis. Has preference for UMPand CMP as phosphate acceptors. Also displays broad nucleosidediphosphate kinase activity. {ECO:0000255|HAMAP-Rule:MF_03172,ECO:0000269|PubMed:10462544, ECO:0000269|PubMed:11912132,ECO:0000269|PubMed:23416111}. | Cytoplasmic adapter regulating receptors of thesignaling lymphocytic activation molecule (SLAM) family such asCD84, SLAMF1, LY9 and CD244 (PubMed:11689425). In SLAM signalingseems to cooperate with SH2D1A/SAP. Plays a role in regulation ofeffector functions of natural killer (NK) cells by controllingsignal transduction through CD244/2B4 without effecting itstyrosine phosphorylation; downstream signaling involves PLCG1 andERK activation (PubMed:24687958). Activation of SLAMF7-mediated NKcell function does not effect receptor tyrosine phosphorylationbut distal signaling (By similarity). In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation withtarget cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cellsynapse (PubMed:24687958). Negatively regulates CD40-inducedcytokine production in dendritic cells downstream of SLAM familyreceptors probably by inducing activation of the PI3K pathway toinhibit p38 MAPK and JNK activation (By similarity).{ECO:0000250|UniProtKB:O35324, ECO:0000269|PubMed:11689425,ECO:0000269|PubMed:24687958, ECO:0000305|PubMed:21219180}. |
| 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 CMPK1_SH2D1B |
| 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 CMPK1_SH2D1B |
| 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 |
| CMPK1 | ELAVL1, MOV10, NXF1, TTC19, ACOT13, ETFA, ECE2, NIT2, TATDN1, TRIM25 | SH2D1B | CD84, SLAMF1, APP, ERBB2, PRDX1, TRIM54, HSPA1A, STAT4, MAPK8IP2, OLIG1, PTK2 |
| - 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 CMPK1_SH2D1B |
| 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 |
| Hgene | CMPK1 | P30085 | DB00441 | Gemcitabine | UMP-CMP kinase {ECO:0000255|HAMAP-Rule:MF_03172} | small molecule | approved |
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RelatedDiseases for CMPK1_SH2D1B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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