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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: 5685

FusionGeneSummary for CBLC_PPP1R13L

check button Fusion gene summary
Fusion gene informationFusion gene name: CBLC_PPP1R13L
Fusion gene ID: 5685
HgeneTgene
Gene symbol

CBLC

PPP1R13L

Gene ID

23624

10848

Gene nameCbl proto-oncogene Cprotein phosphatase 1 regulatory subunit 13 like
SynonymsCBL-3|CBL-SL|RNF57IASPP|NKIP1|RAI|RAI4
Cytomap

19q13.32

19q13.32

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase CBL-CCas-Br-M (murine) ecotropic retroviral transforming sequence cCas-Br-M (murine) ectropic retroviral transforming sequence cCbl proto-oncogene C, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligasrelA-associated inhibitorNFkB interacting protein 1PPP1R13B-like proteininhibitor of ASPP proteininhibitor of apoptosis stimulating protein of p53protein iASPPprotein phosphatase 1, regulatory (inhibitor) subunit 13 likeretinoic acid induced 4
Modification date2018052320180522
UniProtAcc

Q9ULV8

Q8WUF5

Ensembl transtripts involved in fusion geneENST00000341505, ENST00000270279, 
ENST00000360957, ENST00000418234, 
Fusion gene scores* DoF score3 X 2 X 2=125 X 5 X 3=75
# samples 36
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBLC [Title/Abstract] AND PPP1R13L [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneCBLC

GO:0006511

ubiquitin-dependent protein catabolic process

14661060

HgeneCBLC

GO:0007175

negative regulation of epidermal growth factor-activated receptor activity

10362357

HgeneCBLC

GO:0016567

protein ubiquitination

14661060

HgeneCBLC

GO:0042059

negative regulation of epidermal growth factor receptor signaling pathway

10362357

HgeneCBLC

GO:0043407

negative regulation of MAP kinase activity

10362357


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
TCGALDOVTCGA-25-1320-01ACBLCchr19

45287658

+PPP1R13Lchr19

45901597

-
* 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
intron-5UTRENST00000341505ENST00000360957CBLCchr19

45287658

+PPP1R13Lchr19

45901597

-
intron-5UTRENST00000341505ENST00000418234CBLCchr19

45287658

+PPP1R13Lchr19

45901597

-
5CDS-5UTRENST00000270279ENST00000360957CBLCchr19

45287658

+PPP1R13Lchr19

45901597

-
5CDS-5UTRENST00000270279ENST00000418234CBLCchr19

45287658

+PPP1R13Lchr19

45901597

-

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FusionProtFeatures for CBLC_PPP1R13L


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

Q9ULV8

PPP1R13L

Q8WUF5

Acts as an E3 ubiquitin-protein ligase, which acceptsubiquitin from specific E2 ubiquitin-conjugating enzymes, and thentransfers it to substrates promoting their degradation by theproteasome. Functionally coupled with the E2 ubiquitin-proteinligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signaltransduction; upon EGF activation, ubiquitinates EGFR. Isoform 1,but not isoform 2, inhibits EGF stimulated MAPK1 activation.Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. Incollaboration with CD2AP may act as regulatory checkpoint for Retsignaling by modulating the rate of RET degradation after ligandactivation; CD2AP converts it from an inhibitor to a promoter ofRET degradation; the function limits the potency of GDNF onneuronal survival. {ECO:0000269|PubMed:10362357,ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:18753381,ECO:0000269|PubMed:20525694, ECO:0000269|PubMed:23145173}. Regulator that plays a central role in regulation ofapoptosis and transcription via its interaction with NF-kappa-Band p53/TP53 proteins. Blocks transcription of HIV-1 virus byinhibiting the action of both NF-kappa-B and SP1. Also inhibitsp53/TP53 function, possibly by preventing the association betweenp53/TP53 and ASPP1 or ASPP2, and therefore suppressing thesubsequent activation of apoptosis. {ECO:0000269|PubMed:10336463,ECO:0000269|PubMed:12134007, ECO:0000269|PubMed:12524540,ECO:0000269|PubMed:15489900}.

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 CBLC_PPP1R13L


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 CBLC_PPP1R13L


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
CBLCEGFR, FYN, LYN, CRK, UBE2H, UBE2I, UBE2L3, UBE2L6, UBE2K, UBE2R2, ITCH, NACAD, SHC1, SH3GL3, RET, CD2AP, CKM, SRC, ZAP70, MET, UBE2D2, USP2, USP21, OTUD6A, TGFB1I1, TRIP6, BIRC2, TRAF4, CHFR, TRIM46, OXA1L, PDLIM7, UBE2D3, UBE2D1, UBC, ABI2, WASF1, BRK1, NCKAP1, WASF2, LPP, ZNHIT2, CYFIP2, GAK, CYFIP1, MGME1PPP1R13LRELA, TP53, SP1, PPP1CA, AURKB, CEP57, EP300, MAPRE1, WDR83, MAGEA4, PPP1CC, CREBBP, PPP1R3A, SRPK2, XPO1, PPP1CB, SMS, SEC16A, ATP6AP2, CDH1, FAM19A3, PPP1R7, KEAP1, NFE2L2, TRIM25


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 CBLC_PPP1R13L


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 CBLC_PPP1R13L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePPP1R13LC0023418leukemia1CTD_human