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Fusion gene ID: 4005 |
FusionGeneSummary for BCL10_DPYD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCL10_DPYD | Fusion gene ID: 4005 | Hgene | Tgene | Gene symbol | BCL10 | DPYD | Gene ID | 8915 | 1806 |
| Gene name | B cell CLL/lymphoma 10 | dihydropyrimidine dehydrogenase | |
| Synonyms | CARMEN|CIPER|CLAP|IMD37|c-E10|mE10 | DHP|DHPDHASE|DPD | |
| Cytomap | 1p22.3 | 1p21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | B-cell lymphoma/leukemia 10CARD containing molecule enhancing NF-kBCARD-containing apoptotic signaling proteinCARD-containing molecule enhancing NF-kappa-BCARD-containing proapoptotic proteinCED-3/ICH-1 prodomain homologous E10-like regulatorcCARMEN | dihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenase | |
| Modification date | 20180525 | 20180523 | |
| UniProtAcc | O95999 | Q12882 | |
| Ensembl transtripts involved in fusion gene | ENST00000370580, | ENST00000370192, ENST00000474241, ENST00000423006, ENST00000306031, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 8 X 8 X 5=320 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(8/320*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BCL10 [Title/Abstract] AND DPYD [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | BCL10 | GO:0002906 | negative regulation of mature B cell apoptotic process | 15878976 |
| Hgene | BCL10 | GO:0008219 | cell death | 10400625 |
| Hgene | BCL10 | GO:0031398 | positive regulation of protein ubiquitination | 14695475 |
| Hgene | BCL10 | GO:0032094 | response to food | 17095757 |
| Hgene | BCL10 | GO:0042327 | positive regulation of phosphorylation | 15125833 |
| Hgene | BCL10 | GO:0043065 | positive regulation of apoptotic process | 11821383 |
| Hgene | BCL10 | GO:0045893 | positive regulation of transcription, DNA-templated | 15207693 |
| Hgene | BCL10 | GO:0050852 | T cell receptor signaling pathway | 15125833 |
| Hgene | BCL10 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 10400625|14695475 |
| Hgene | BCL10 | GO:2001238 | positive regulation of extrinsic apoptotic signaling pathway | 11466612 |
| Tgene | DPYD | GO:0006210 | thymine catabolic process | 10410956 |
| Tgene | DPYD | GO:0006212 | uracil catabolic process | 1512248|18075467 |
| Tgene | DPYD | GO:0006214 | thymidine catabolic process | 1512248 |
| 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 | SARC | TCGA-DX-AATS-01A | BCL10 | chr1 | 85741979 | - | DPYD | chr1 | 98015300 | - |
| * 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 | ENST00000370580 | ENST00000370192 | BCL10 | chr1 | 85741979 | - | DPYD | chr1 | 98015300 | - |
| 5CDS-intron | ENST00000370580 | ENST00000474241 | BCL10 | chr1 | 85741979 | - | DPYD | chr1 | 98015300 | - |
| 5CDS-intron | ENST00000370580 | ENST00000423006 | BCL10 | chr1 | 85741979 | - | DPYD | chr1 | 98015300 | - |
| 5CDS-intron | ENST00000370580 | ENST00000306031 | BCL10 | chr1 | 85741979 | - | DPYD | chr1 | 98015300 | - |
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FusionProtFeatures for BCL10_DPYD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCL10 | DPYD |
| Involved in adaptive immune response (PubMed:25365219).Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein betweenupstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAPcomplex. Is a substrate for MALT1 (PubMed:18264101).{ECO:0000269|PubMed:18264101, ECO:0000269|PubMed:25365219}. |
| 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 BCL10_DPYD |
| 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 BCL10_DPYD |
| 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 |
| BCL10 | MALT1, C9orf89, HIST1H2BC, KRT33B, TNFRSF10A, TNFRSF1A, TRADD, NLRC4, CARD10, CARD9, CARD11, CARD14, TRAF2, BIRC2, BIRC3, IKBKG, IRAK1, BCL10, XIAP, NFKBIA, CSNK1A1, MIB2, FYB, PRKCQ, CAMK2G, ELAVL1, TRAF6, IKBKB, BTRC, CHUK, DPP4, MAPK9, MAP3K7, MAP2K7, AKT1, BCL3, USP9X, IL15RA, CDK9, SRSF1, SLC20A1, SLC9A3R1, PRRG4, USHBP1, ATM, RNF8, RNF168, UBE2V2, UBE2N, FGFR1OP, XPO1, RNF181, PPP2R1A, PPP2CA, SQSTM1, MAP1LC3A, ATG5, OTULIN, RNF31 | DPYD | CHAC2, GOPC, LXN, APOA1BP, C9orf64, GAPDH, TRNT1, RPE, CLK1 |
| - 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 BCL10_DPYD |
| 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 BCL10_DPYD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DPYD | C0009404 | Colorectal Neoplasms | 5 | CTD_human |
| Tgene | DPYD | C1959620 | Dihydropyrimidine Dehydrogenase Deficiency | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | DPYD | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| Tgene | DPYD | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Tgene | DPYD | C0034139 | Purine-Pyrimidine Metabolism, Inborn Errors | 2 | CTD_human |
| Tgene | DPYD | C0036341 | Schizophrenia | 2 | CTD_human |
| Tgene | DPYD | C1510586 | Autism Spectrum Disorders | 2 | CTD_human;HPO |
| Tgene | DPYD | C0004352 | Autistic Disorder | 1 | CTD_human;HPO |
| Tgene | DPYD | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | DPYD | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| Tgene | DPYD | C0023014 | Language Development Disorders | 1 | CTD_human |
| Tgene | DPYD | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | DPYD | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | DPYD | C0027765 | nervous system disorder | 1 | CTD_human |
| Tgene | DPYD | C0027947 | Neutropenia | 1 | CTD_human |
| Tgene | DPYD | C0028754 | Obesity | 1 | CTD_human;HPO |
| Tgene | DPYD | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Tgene | DPYD | C0270612 | Leukoencephalopathies | 1 | CTD_human |
| Tgene | DPYD | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | DPYD | C2239176 | Liver carcinoma | 1 | CTD_human |
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