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Fusion gene ID: 5691 |
FusionGeneSummary for CBL_PDZD3 |
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Fusion gene information | Fusion gene name: CBL_PDZD3 | Fusion gene ID: 5691 | Hgene | Tgene | Gene symbol | CBL | PDZD3 | Gene ID | 867 | 79849 |
Gene name | Cbl proto-oncogene | PDZ domain containing 3 | |
Synonyms | C-CBL|CBL2|FRA11B|NSLL|RNF55 | IKEPP|NHERF4|PDZK2 | |
Cytomap | 11q23.3 | 11q23.3 | |
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 | Na(+)/H(+) exchange regulatory cofactor NHE-RF4NHERF-4PDZ domain containing 2PDZ domain-containing protein 2PDZ domain-containing protein 3intestinal and kidney enriched PDZ proteinna/Pi cotransporter C-terminal-associated protein 2naPi-Cap2natriu | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P22681 | Q86UT5 | |
Ensembl transtripts involved in fusion gene | ENST00000264033, | ENST00000525131, ENST00000531114, ENST00000355547, ENST00000322712, ENST00000392817, | |
Fusion gene scores | * DoF score | 10 X 7 X 7=490 | 1 X 1 X 1=1 |
# samples | 11 | 1 | |
** MAII score | log2(11/490*10)=-2.15527822547791 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: CBL [Title/Abstract] AND PDZD3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | LIHC | TCGA-BC-A3KG-01A | CBL | chr11 | 119077322 | + | PDZD3 | chr11 | 119059349 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
In-frame | ENST00000264033 | ENST00000525131 | CBL | chr11 | 119077322 | + | PDZD3 | chr11 | 119059349 | + |
In-frame | ENST00000264033 | ENST00000531114 | CBL | chr11 | 119077322 | + | PDZD3 | chr11 | 119059349 | + |
In-frame | ENST00000264033 | ENST00000355547 | CBL | chr11 | 119077322 | + | PDZD3 | chr11 | 119059349 | + |
In-frame | ENST00000264033 | ENST00000322712 | CBL | chr11 | 119077322 | + | PDZD3 | chr11 | 119059349 | + |
In-frame | ENST00000264033 | ENST00000392817 | CBL | chr11 | 119077322 | + | PDZD3 | chr11 | 119059349 | + |
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FusionProtFeatures for CBL_PDZD3 |
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Hgene | Tgene |
CBL | PDZD3 |
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}. | Acts as a regulatory protein that associates with GUCY2Cand negatively modulates its heat-stable enterotoxin-mediatedactivation (PubMed:11950846). Stimulates SLC9A3 activity in thepresence of elevated calcium ions (PubMed:19088451).{ECO:0000269|PubMed:11950846, ECO:0000269|PubMed:19088451}. |
![]() * 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 |
Tgene | >PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000322712 | + | 7 | 11 | 467_548 | 339 | 492 | Domain | PDZ 4 |
Tgene | >PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000355547 | + | 7 | 11 | 467_548 | 353 | 506 | Domain | PDZ 4 |
Tgene | >PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000392817 | + | 4 | 8 | 467_548 | 419 | 572 | Domain | PDZ 4 |
Tgene | >PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000531114 | + | 5 | 9 | 467_548 | 419 | 572 | Domain | PDZ 4 |
- 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 |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 227_240 | 65 | 907 | Calcium binding | . |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 357_476 | 65 | 907 | Compositional bias | Note=Asp/Glu-rich (acidic) |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 477_688 | 65 | 907 | Compositional bias | Note=Pro-rich |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 689_834 | 65 | 907 | Compositional bias | Note=Asp/Glu-rich (acidic) |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 47_351 | 65 | 907 | Domain | Cbl-PTB |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 856_895 | 65 | 907 | Domain | UBA |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 176_248 | 65 | 907 | Region | Note=EF-hand-like |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 249_351 | 65 | 907 | Region | Note=SH2-like |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 352_380 | 65 | 907 | Region | Note=Linker |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 47_175 | 65 | 907 | Region | Note=4H |
Hgene | >CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 381_420 | 65 | 907 | Zinc finger | RING-type |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000322712 | + | 7 | 11 | 115_196 | 339 | 492 | Domain | PDZ 1 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000322712 | + | 7 | 11 | 223_301 | 339 | 492 | Domain | PDZ 2 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000322712 | + | 7 | 11 | 329_412 | 339 | 492 | Domain | PDZ 3 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000355547 | + | 7 | 11 | 115_196 | 353 | 506 | Domain | PDZ 1 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000355547 | + | 7 | 11 | 223_301 | 353 | 506 | Domain | PDZ 2 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000355547 | + | 7 | 11 | 329_412 | 353 | 506 | Domain | PDZ 3 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000392817 | + | 4 | 8 | 115_196 | 419 | 572 | Domain | PDZ 1 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000392817 | + | 4 | 8 | 223_301 | 419 | 572 | Domain | PDZ 2 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000392817 | + | 4 | 8 | 329_412 | 419 | 572 | Domain | PDZ 3 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000531114 | + | 5 | 9 | 115_196 | 419 | 572 | Domain | PDZ 1 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000531114 | + | 5 | 9 | 223_301 | 419 | 572 | Domain | PDZ 2 |
Tgene | PDZD3 | chr11:119077322 | chr11:119059349 | ENST00000531114 | + | 5 | 9 | 329_412 | 419 | 572 | Domain | PDZ 3 |
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FusionGeneSequence for CBL_PDZD3 |
![]() (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_PDZD3 |
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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 | PDZD3 | ABCC2, CFTR, GUCY2C, PTGIR, CACNA1S, SLC41A3, ASAP3, SPRYD7 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | CBL | chr11:119077322 | chr11:119059349 | ENST00000264033 | + | 1 | 16 | 648_906 | 65 | 907 | CD2AP |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CBL_PDZD3 |
![]() (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_PDZD3 |
![]() (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 |