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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5691

FusionGeneSummary for CBL_PDZD3

check button Fusion gene summary
Fusion gene informationFusion gene name: CBL_PDZD3
Fusion gene ID: 5691
HgeneTgene
Gene symbol

CBL

PDZD3

Gene ID

867

79849

Gene nameCbl proto-oncogenePDZ domain containing 3
SynonymsC-CBL|CBL2|FRA11B|NSLL|RNF55IKEPP|NHERF4|PDZK2
Cytomap

11q23.3

11q23.3

Type of geneprotein-codingprotein-coding
DescriptionE3 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 siNa(+)/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 date2018052320180519
UniProtAcc

P22681

Q86UT5

Ensembl transtripts involved in fusion geneENST00000264033, ENST00000525131, 
ENST00000531114, ENST00000355547, 
ENST00000322712, ENST00000392817, 
Fusion gene scores* DoF score10 X 7 X 7=4901 X 1 X 1=1
# samples 111
** MAII scorelog2(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 annotationOncogene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-BC-A3KG-01ACBLchr11

119077322

+PDZD3chr11

119059349

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000264033ENST00000525131CBLchr11

119077322

+PDZD3chr11

119059349

+
In-frameENST00000264033ENST00000531114CBLchr11

119077322

+PDZD3chr11

119059349

+
In-frameENST00000264033ENST00000355547CBLchr11

119077322

+PDZD3chr11

119059349

+
In-frameENST00000264033ENST00000322712CBLchr11

119077322

+PDZD3chr11

119059349

+
In-frameENST00000264033ENST00000392817CBLchr11

119077322

+PDZD3chr11

119059349

+

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FusionProtFeatures for CBL_PDZD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CBL

P22681

PDZD3

Q86UT5

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}.

check buttonRetention 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

download page

.

* 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.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePDZD3chr11:119077322chr11:119059349ENST00000322712+711467_548339492DomainPDZ 4
TgenePDZD3chr11:119077322chr11:119059349ENST00000355547+711467_548353506DomainPDZ 4
TgenePDZD3chr11:119077322chr11:119059349ENST00000392817+48467_548419572DomainPDZ 4
TgenePDZD3chr11:119077322chr11:119059349ENST00000531114+59467_548419572DomainPDZ 4

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116227_24065907Calcium binding.
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116357_47665907Compositional biasNote=Asp/Glu-rich (acidic)
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116477_68865907Compositional biasNote=Pro-rich
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116689_83465907Compositional biasNote=Asp/Glu-rich (acidic)
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+11647_35165907DomainCbl-PTB
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116856_89565907DomainUBA
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116176_24865907RegionNote=EF-hand-like
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116249_35165907RegionNote=SH2-like
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116352_38065907RegionNote=Linker
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+11647_17565907RegionNote=4H
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116381_42065907Zinc fingerRING-type
TgenePDZD3chr11:119077322chr11:119059349ENST00000322712+711115_196339492DomainPDZ 1
TgenePDZD3chr11:119077322chr11:119059349ENST00000322712+711223_301339492DomainPDZ 2
TgenePDZD3chr11:119077322chr11:119059349ENST00000322712+711329_412339492DomainPDZ 3
TgenePDZD3chr11:119077322chr11:119059349ENST00000355547+711115_196353506DomainPDZ 1
TgenePDZD3chr11:119077322chr11:119059349ENST00000355547+711223_301353506DomainPDZ 2
TgenePDZD3chr11:119077322chr11:119059349ENST00000355547+711329_412353506DomainPDZ 3
TgenePDZD3chr11:119077322chr11:119059349ENST00000392817+48115_196419572DomainPDZ 1
TgenePDZD3chr11:119077322chr11:119059349ENST00000392817+48223_301419572DomainPDZ 2
TgenePDZD3chr11:119077322chr11:119059349ENST00000392817+48329_412419572DomainPDZ 3
TgenePDZD3chr11:119077322chr11:119059349ENST00000531114+59115_196419572DomainPDZ 1
TgenePDZD3chr11:119077322chr11:119059349ENST00000531114+59223_301419572DomainPDZ 2
TgenePDZD3chr11:119077322chr11:119059349ENST00000531114+59329_412419572DomainPDZ 3


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FusionGeneSequence for CBL_PDZD3


check button 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_PDZD3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CBLKRT18, 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, TRAF2PDZD3ABCC2, CFTR, GUCY2C, PTGIR, CACNA1S, SLC41A3, ASAP3, SPRYD7


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneCBLchr11:119077322chr11:119059349ENST00000264033+116648_90665907CD2AP


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CBL_PDZD3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CBL_PDZD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCBLC0349639Juvenile Myelomonocytic Leukemia3CTD_human;HPO;ORPHANET
HgeneCBLC0008073Developmental Disabilities1CTD_human
HgeneCBLC0010417Cryptorchidism1CTD_human;HPO
HgeneCBLC0018273Growth Disorders1CTD_human
HgeneCBLC0042384Vasculitis1CTD_human
HgeneCBLC3150803NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA1CTD_human;ORPHANET;UNIPROT