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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: 5695

FusionGeneSummary for CBL_TRAPPC4

check button Fusion gene summary
Fusion gene informationFusion gene name: CBL_TRAPPC4
Fusion gene ID: 5695
HgeneTgene
Gene symbol

CBL

TRAPPC4

Gene ID

867

51399

Gene nameCbl proto-oncogenetrafficking protein particle complex 4
SynonymsC-CBL|CBL2|FRA11B|NSLL|RNF55CGI-104|HSPC172|PTD009|SBDN|SYNBINDIN|TRS23
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 sitrafficking protein particle complex subunit 4TRS23 homologhematopoietic stem/progenitor cell protein 172
Modification date2018052320180523
UniProtAcc

P22681

Q9Y296

Ensembl transtripts involved in fusion geneENST00000264033, ENST00000533632, 
ENST00000528230, ENST00000525303, 
ENST00000434101, ENST00000359005, 
ENST00000533058, ENST00000526141, 
Fusion gene scores* DoF score10 X 7 X 7=4903 X 3 X 2=18
# samples 113
** MAII scorelog2(11/490*10)=-2.15527822547791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CBL [Title/Abstract] AND TRAPPC4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor 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)

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
TCGARVESCATCGA-L5-A4OS-01ACBLchr11

119158656

+TRAPPC4chr11

118894031

+
* 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
Frame-shiftENST00000264033ENST00000533632CBLchr11

119158656

+TRAPPC4chr11

118894031

+
In-frameENST00000264033ENST00000528230CBLchr11

119158656

+TRAPPC4chr11

118894031

+
Frame-shiftENST00000264033ENST00000525303CBLchr11

119158656

+TRAPPC4chr11

118894031

+
Frame-shiftENST00000264033ENST00000434101CBLchr11

119158656

+TRAPPC4chr11

118894031

+
Frame-shiftENST00000264033ENST00000359005CBLchr11

119158656

+TRAPPC4chr11

118894031

+
5CDS-intronENST00000264033ENST00000533058CBLchr11

119158656

+TRAPPC4chr11

118894031

+
5CDS-intronENST00000264033ENST00000526141CBLchr11

119158656

+TRAPPC4chr11

118894031

+

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FusionProtFeatures for CBL_TRAPPC4


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

P22681

TRAPPC4

Q9Y296

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}. May play a role in vesicular transport from endoplasmicreticulum to Golgi.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CBL_TRAPPC4


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.
>In-frame_CBL_ENST00000264033_chr11_119158656_+_TRAPPC4_ENST00000528230_chr11_118894031_+_705aa
MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNSPPYILDLLPD
TYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSHMLAELKGIFPSGLFQGDTFR
ITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWSSLLRNWNSLAVTHPGYMA
FLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDLTGLCEPTPQDH
IKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSLLRQGAEGA
PSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLR
DLPPPPPPDRPYSVGAESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_CBL_ENST00000264033_chr11_119158656_+_TRAPPC4_ENST00000528230_chr11_118894031_+_2115nt
ATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCTGATTGGGCTCATGAAG
GACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGG
AAGCTCATGGACAAGGTGGTGCGGTTGTGTCAGAACCCAAAGCTGGCGCTAAAGAATAGCCCACCTTATATCTTAGACCTGCTACCAGAT
ACCTACCAGCATCTCCGTACTATCTTGTCAAGATATGAGGGGAAGATGGAGACACTTGGAGAAAATGAGTATTTTAGGGTGTTTATGGAG
AATTTGATGAAGAAAACTAAGCAAACCATAAGCCTCTTCAAGGAGGGAAAAGAAAGAATGTATGAGGAGAATTCTCAGCCTAGGCGAAAC
CTAACCAAACTGTCCCTCATCTTCAGCCACATGCTGGCAGAACTAAAAGGAATCTTTCCAAGTGGACTCTTTCAGGGAGACACATTTCGG
ATTACTAAAGCAGATGCTGCGGAATTTTGGAGAAAAGCTTTTGGGGAAAAGACAATAGTCCCTTGGAAGAGCTTTCGACAGGCTCTACAT
GAAGTGCATCCCATCAGTTCTGGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAA
TTTGACATCTTTACCCGACTCTTTCAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCT
TTTTTGACGTATGACGAAGTGAAAGCTCGGCTCCAGAAATTCATTCACAAACCTGGCAGTTATATCTTCCGGCTGAGCTGTACTCGTCTG
GGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTTCCAAGCACTGATTGAT
GGCTTCAGGGAAGGCTTCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCAT
ATCAAAGTGACCCAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGAT
GTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGA
TGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCT
CCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTGGAACGG
CCGCCTTCTCCATTCTCCATGGCCCCACAAGCTTCCCTTCCCCCGGTGCCACCACGACTTGACCTTCTGCCGCAGCGAGTATGTGTTCCC
TCAAGTGCTTCTGCTCTTGGAACTGCTTCTAAGGCTGCTTCTGGCTCCCTTCATAAAGACAAACCATTGCCAGTACCTCCCACACTTCGA
GATCTTCCACCACCACCGCCTCCAGACCGGCCATATTCTGTTGGAGCAGAATCCCGACCTCAAAGACGCCCCTTGCCTTGTACACCAGGC
GACTGTCCCTCCAGAGACAAACTGCCCCCTGTCCCCTCTAGCCGCCTTGGAGACTCATGGCTGCCCCGGCCAATCCCCAAAGTACCAGTA
TCTGCCCCAAGTTCCAGTGATCCCTGGACAGGAAGAGAATTAACCAACCGGCACTCACTTCCATTTTCATTGCCCTCACAAATGGAGCCC
AGACCAGATGTGCCTAGGCTCGGAAGCACGTTCAGTCTGGATACCTCCATGAGTATGAATAGCAGCCCATTAGTAGGTCCAGAGTGTGAC
CACCCCAAAATCAAACCTTCCTCATCTGCCAATGCCATTTATTCTCTGGCTGCCAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_CBL_ENST00000264033_chr11_119158656_+_TRAPPC4_ENST00000528230_chr11_118894031_+_2513nt
ACAGAAACCTGGCCGCGGCTTTCCGGGAGCTGTGGGCACGCGAGCTGCTCGAAGCCGGTGGCCCGGGGATCGTCGCTGCCCAGTCCGGCC
GCGGCCGGCCGCTTCCCCGAGCTTACCAGTAAGCCGGTCCGCCTCCGGGACGCGCCCCGCCCGCCCCGGGCTCGCGCGCTCTGAAGGGGC
GCGTCCCGCGCACTCCCGGCGCCGCCCACTCCCCTCCCCACGGCCGCTCCTCCCTCCGCCCGGATAGCCGGCGGCGGCGGCGGCGGCGGC
GGCGGCGGCGGCCGGGAGAGGCCCCTCCTTCACGCCCTGCTTCTCTCCCTCGCTCGCAGTCGAGCCGAGCCGGCGGACCCGCCTGGGCTC
CGACCCTGCCCAGGCCATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCT
GATTGGGCTCATGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGAT
GGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGGTGCGGTTGTGTCAGAACCCAAAGCTGGCGCTAAAGAATAGCCCACCTTATATCTT
AGACCTGCTACCAGATACCTACCAGCATCTCCGTACTATCTTGTCAAGATATGAGGGGAAGATGGAGACACTTGGAGAAAATGAGTATTT
TAGGGTGTTTATGGAGAATTTGATGAAGAAAACTAAGCAAACCATAAGCCTCTTCAAGGAGGGAAAAGAAAGAATGTATGAGGAGAATTC
TCAGCCTAGGCGAAACCTAACCAAACTGTCCCTCATCTTCAGCCACATGCTGGCAGAACTAAAAGGAATCTTTCCAAGTGGACTCTTTCA
GGGAGACACATTTCGGATTACTAAAGCAGATGCTGCGGAATTTTGGAGAAAAGCTTTTGGGGAAAAGACAATAGTCCCTTGGAAGAGCTT
TCGACAGGCTCTACATGAAGTGCATCCCATCAGTTCTGGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTA
TATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCA
TCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGGCTCCAGAAATTCATTCACAAACCTGGCAGTTATATCTTCCGGCT
GAGCTGTACTCGTCTGGGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTT
CCAAGCACTGATTGATGGCTTCAGGGAAGGCTTCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACC
AACTCCCCAAGACCATATCAAAGTGACCCAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGC
TGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGAATCAGAAGGTCAGGG
CTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCA
AGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGG
TGCCAAGGTGGAACGGCCGCCTTCTCCATTCTCCATGGCCCCACAAGCTTCCCTTCCCCCGGTGCCACCACGACTTGACCTTCTGCCGCA
GCGAGTATGTGTTCCCTCAAGTGCTTCTGCTCTTGGAACTGCTTCTAAGGCTGCTTCTGGCTCCCTTCATAAAGACAAACCATTGCCAGT
ACCTCCCACACTTCGAGATCTTCCACCACCACCGCCTCCAGACCGGCCATATTCTGTTGGAGCAGAATCCCGACCTCAAAGACGCCCCTT
GCCTTGTACACCAGGCGACTGTCCCTCCAGAGACAAACTGCCCCCTGTCCCCTCTAGCCGCCTTGGAGACTCATGGCTGCCCCGGCCAAT
CCCCAAAGTACCAGTATCTGCCCCAAGTTCCAGTGATCCCTGGACAGGAAGAGAATTAACCAACCGGCACTCACTTCCATTTTCATTGCC
CTCACAAATGGAGCCCAGACCAGATGTGCCTAGGCTCGGAAGCACGTTCAGTCTGGATACCTCCATGAGTATGAATAGCAGCCCATTAGT
AGGTCCAGAGTGTGACCACCCCAAAATCAAACCTTCCTCATCTGCCAATGCCATTTATTCTCTGGCTGCCAGGTGTGAGCTCTTTGACCA


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FusionGenePPI for CBL_TRAPPC4


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, TRAF2TRAPPC4PRSS23, TRAPPC2, TRAPPC3L, TRAPPC4, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC2L, APP, TFIP11, BCL2L14, CABS1, TRAPPC3, AASDHPPT, PHPT1, PNP, SERPINB1, UGDH, TRAPPC6B, TRAPPC1, TRAPPC5, STMN4, KANK4, TBC1D14, GLB1, GRAMD1B, CCDC102B, GATA2, INTU, RAB30, BTBD1, CNN2, AARSD1, RAB3IP, TMEM102, MB21D2, PDLIM7, RAB3IL1


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


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_TRAPPC4


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_TRAPPC4


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