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Fusion gene ID: 5693 |
FusionGeneSummary for CBL_SC5D |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CBL_SC5D | Fusion gene ID: 5693 | Hgene | Tgene | Gene symbol | CBL | SC5D | Gene ID | 867 | 6309 |
| Gene name | Cbl proto-oncogene | sterol-C5-desaturase | |
| Synonyms | C-CBL|CBL2|FRA11B|NSLL|RNF55 | ERG3|S5DES|SC5DL | |
| Cytomap | 11q23.3 | 11q23.3-q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase CBLCas-Br-M (murine) ecotropic retroviral transforming sequenceCbl proto-oncogene, E3 ubiquitin protein ligaseRING finger protein 55RING-type E3 ubiquitin transferase CBLcasitas B-lineage lymphoma proto-oncogenefragile si | lathosterol oxidase3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasedelta(7)-sterol C5(6)-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenasesterol-C5-desaturase (ER | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P22681 | O75845 | |
| Ensembl transtripts involved in fusion gene | ENST00000264033, | ENST00000264027, ENST00000534230, ENST00000392789, ENST00000528991, | |
| Fusion gene scores | * DoF score | 10 X 7 X 7=490 | 3 X 3 X 3=27 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/490*10)=-2.15527822547791 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CBL [Title/Abstract] AND SC5D [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 |
| 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 | LD | STAD | TCGA-RD-A8MV-01A | CBL | chr11 | 119103405 | + | SC5D | chr11 | 121177095 | + |
| * 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 | ENST00000264033 | ENST00000264027 | CBL | chr11 | 119103405 | + | SC5D | chr11 | 121177095 | + |
| Frame-shift | ENST00000264033 | ENST00000534230 | CBL | chr11 | 119103405 | + | SC5D | chr11 | 121177095 | + |
| Frame-shift | ENST00000264033 | ENST00000392789 | CBL | chr11 | 119103405 | + | SC5D | chr11 | 121177095 | + |
| 5CDS-intron | ENST00000264033 | ENST00000528991 | CBL | chr11 | 119103405 | + | SC5D | chr11 | 121177095 | + |
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FusionProtFeatures for CBL_SC5D |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CBL | SC5D |
| Adapter protein that functions as a negative regulatorof many signaling pathways that are triggered by activation ofcell surface receptors. Acts as an E3 ubiquitin-protein ligase,which accepts ubiquitin from specific E2 ubiquitin-conjugatingenzymes, and then transfers it to substrates promoting theirdegradation by the proteasome. Recognizes activated receptortyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA,PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling.Recognizes membrane-bound HCK, SRC and other kinases of the SRCfamily and mediates their ubiquitination and degradation.Participates in signal transduction in hematopoietic cells. Playsan important role in the regulation of osteoblast differentiationand apoptosis. Essential for osteoclastic bone resorption. The'Tyr-731' phosphorylated form induces the activation andrecruitment of phosphatidylinositol 3-kinase to the cell membranein a signaling pathway that is critical for osteoclast function.May be functionally coupled with the E2 ubiquitin-protein ligaseUB2D3. {ECO:0000269|PubMed:10514377, ECO:0000269|PubMed:11896602,ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:14739300,ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:17509076,ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19689429,ECO:0000269|PubMed:21596750}. | Catalyzes a dehydrogenation to introduce C5-6 doublebond into lathosterol. |
| 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 CBL_SC5D |
| 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 CBL_SC5D |
| 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 |
| CBL | KRT18, MYO1C, ZAP70, PDGFRA, CRKL, GRB2, ARHGEF7, HCK, PTK2B, SORBS2, SORBS1, CD2AP, SH2B2, SH3KBP1, PIK3R2, YWHAQ, SLA, SH3BP2, EGFR, PTPN6, LCK, SPRY2, CSF1R, SH3GL3, MET, SYK, FRS2, UBE2L3, BTK, LYN, FYN, TYK2, YWHAB, YWHAZ, VAV1, LCP2, UBE2D2, FGR, ABL1, SLA2, INPPL1, SHC1, NCK1, PLCG1, SH3GL2, FLOT1, PIK3R1, CRK, CSK, ITK, CD5, LTK, IGF1R, PTPN11, UBE2D1, SPRY4, UBC, CBL, CSF1, GAPVD1, KDR, ITSN1, MST1R, UBE2M, AXL, ITGA5, KIT, LRIG1, UBASH3A, UBASH3B, GAPDH, EEF1A1, CDC42, SRC, NOTCH1, CD247, STAP2, TNFRSF10A, TNFRSF10B, FCGR2A, MYH9, ACTA1, ACTB, ACTG2, VIM, HSPA4, HSPA5, EPHA8, UBE4B, EPHB1, IL7R, CD33, NTRK1, CFTR, PSMC5, ITCH, TEK, BAG1, PTK2, PXN, VAV2, IRF8, RET, IRS1, ITSN2, HRAS, DBNL, ASAP1, TNFRSF1A, MAPK14, MAPK8, BLNK, INPP5D, TUBB, TUBA1A, SOS1, NOTCH3, SMAD3, CALM1, YES1, SFN, YWHAH, YWHAE, EPHA2, RAPGEF1, ABI1, GIF, TCN1, TCN2, MYH2, HTR2A, FYB, FGFR2, GBA, SORBS3, ITGAV, BCAR1, CD38, BCR, OSTF1, GRAP2, PIK3CA, CD40, BLK, SYNM, CUBN, SPRY1, LAT, SNX18, KRT10, KRT1, KRT2, HSPA8, PIK3CB, SPTBN1, KRT6C, KRT6B, KRT9, KRT14, KRT5, ACACA, KRT16, TUBB4B, KRT6A, TUBA1C, HSPA9, HSPA1L, MYH10, IQGAP1, KRT17, HSPA1B, SPTA1, SPTAN1, HSPA6, CCT8, KRT79, RPS19, CBLB, KRT84, CORO1C, TRIM21, KRT3, TUBA4B, CAD, ACTN1, POP1, PRKCA, PRKCQ, MAP3K11, EPOR, UBE2D3, TRPV1, USP21, PTPN22, ITGA4, STAT5A, PTEN, TNS4, CTNNB1, WAS, TRAF4, TRIM8, IRF1, FLT3, LOX, NCK2, ERBB2, CAPZA1, PRPSAP2, ERBB4, SIRT2, FRS3, FLT1, TGFBR2, SSFA2, SMAD7, PIK3R3, APPL1, EPS8, STAT3, MZF1, SERPINA5, CEP170, CEP128, FBF1, NPHP1, XPO1, PSMC1, XRCC5, ERBB2IP, SP7, ARHGEF6, TGM2, TSG101, IRF3, CDH1, RAB39B, TRIM25, TRAF2 | SC5D | TSPAN5, TSPAN17, BSCL2, LPAR1, IPPK, VIPR1, TPRA1, SLC22A9, YIPF3, C3AR1, RXFP4, VIPR2 |
| - 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 CBL_SC5D |
| 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 CBL_SC5D |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CBL | C0349639 | Juvenile Myelomonocytic Leukemia | 3 | CTD_human;HPO;ORPHANET |
| Hgene | CBL | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Hgene | CBL | C0010417 | Cryptorchidism | 1 | CTD_human;HPO |
| Hgene | CBL | C0018273 | Growth Disorders | 1 | CTD_human |
| Hgene | CBL | C0042384 | Vasculitis | 1 | CTD_human |
| Hgene | CBL | C3150803 | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SC5D | C1846421 | Lathosterolosis | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SC5D | C0023895 | Liver diseases | 1 | CTD_human |
| Tgene | SC5D | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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