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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PPP1R37-CBLC (FusionGDB2 ID:67903)

Fusion Gene Summary for PPP1R37-CBLC

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R37-CBLC
Fusion gene ID: 67903
HgeneTgene
Gene symbol

PPP1R37

CBLC

Gene ID

284352

23624

Gene nameprotein phosphatase 1 regulatory subunit 37Cbl proto-oncogene C
SynonymsLRRC68CBL-3|CBL-SL|RNF57
Cytomap

19q13.32

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1 regulatory subunit 37leucine rich repeat containing 68leucine-rich repeat-containing protein 68E3 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 ligas
Modification date2020031320200313
UniProtAcc

O75864

Q9ULV8

Ensembl transtripts involved in fusion geneENST00000221462, ENST00000421905, 
ENST00000496125, 		ENST00000270279, 
ENST00000341505, 
Fusion gene scores* DoF score20 X 7 X 13=18204 X 7 X 2=56
# samples 277
** MAII scorelog2(27/1820*10)=-2.75290713803523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/56*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPP1R37 [Title/Abstract] AND CBLC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPP1R37(45646891)-CBLC(45303637), # samples:1
PPP1R37(45645716)-CBLC(45303637), # samples:1
PPP1R37(45646891)-CBLC(45303638), # samples:1
PPP1R37(45645716)-CBLC(45303638), # samples:1
Anticipated loss of major functional domain due to fusion event.PPP1R37-CBLC seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
* 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
HgenePPP1R37

GO:0010923

negative regulation of phosphatase activity

19389623

TgeneCBLC

GO:0006511

ubiquitin-dependent protein catabolic process

14661060

TgeneCBLC

GO:0007175

negative regulation of epidermal growth factor-activated receptor activity

10362357

TgeneCBLC

GO:0016567

protein ubiquitination

14661060

TgeneCBLC

GO:0042059

negative regulation of epidermal growth factor receptor signaling pathway

10362357

TgeneCBLC

GO:0043407

negative regulation of MAP kinase activity

10362357


check buttonFusion gene breakpoints across PPP1R37 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CBLC (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-AX-A2H2-01APPP1R37chr19

45645716

+CBLCchr19

45303638

+
ChimerDB4UCECTCGA-AX-A2H2-01APPP1R37chr19

45646891

+CBLCchr19

45303638

+
ChimerDB4UCECTCGA-AX-A2H2PPP1R37chr19

45645716

+CBLCchr19

45303637

+
ChimerDB4UCECTCGA-AX-A2H2PPP1R37chr19

45646891

+CBLCchr19

45303637

+


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Fusion Gene ORF analysis for PPP1R37-CBLC

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-shiftENST00000221462ENST00000270279PPP1R37chr19

45645716

+CBLCchr19

45303638

+
Frame-shiftENST00000221462ENST00000270279PPP1R37chr19

45646891

+CBLCchr19

45303638

+
Frame-shiftENST00000221462ENST00000270279PPP1R37chr19

45645716

+CBLCchr19

45303637

+
Frame-shiftENST00000221462ENST00000270279PPP1R37chr19

45646891

+CBLCchr19

45303637

+
Frame-shiftENST00000221462ENST00000341505PPP1R37chr19

45645716

+CBLCchr19

45303638

+
Frame-shiftENST00000221462ENST00000341505PPP1R37chr19

45646891

+CBLCchr19

45303638

+
Frame-shiftENST00000221462ENST00000341505PPP1R37chr19

45645716

+CBLCchr19

45303637

+
Frame-shiftENST00000221462ENST00000341505PPP1R37chr19

45646891

+CBLCchr19

45303637

+
Frame-shiftENST00000421905ENST00000270279PPP1R37chr19

45645716

+CBLCchr19

45303638

+
Frame-shiftENST00000421905ENST00000270279PPP1R37chr19

45646891

+CBLCchr19

45303638

+
Frame-shiftENST00000421905ENST00000270279PPP1R37chr19

45645716

+CBLCchr19

45303637

+
Frame-shiftENST00000421905ENST00000270279PPP1R37chr19

45646891

+CBLCchr19

45303637

+
Frame-shiftENST00000421905ENST00000341505PPP1R37chr19

45645716

+CBLCchr19

45303638

+
Frame-shiftENST00000421905ENST00000341505PPP1R37chr19

45646891

+CBLCchr19

45303638

+
Frame-shiftENST00000421905ENST00000341505PPP1R37chr19

45645716

+CBLCchr19

45303637

+
Frame-shiftENST00000421905ENST00000341505PPP1R37chr19

45646891

+CBLCchr19

45303637

+
intron-3CDSENST00000496125ENST00000270279PPP1R37chr19

45645716

+CBLCchr19

45303638

+
intron-3CDSENST00000496125ENST00000270279PPP1R37chr19

45646891

+CBLCchr19

45303638

+
intron-3CDSENST00000496125ENST00000270279PPP1R37chr19

45645716

+CBLCchr19

45303637

+
intron-3CDSENST00000496125ENST00000270279PPP1R37chr19

45646891

+CBLCchr19

45303637

+
intron-3CDSENST00000496125ENST00000341505PPP1R37chr19

45645716

+CBLCchr19

45303638

+
intron-3CDSENST00000496125ENST00000341505PPP1R37chr19

45646891

+CBLCchr19

45303638

+
intron-3CDSENST00000496125ENST00000341505PPP1R37chr19

45645716

+CBLCchr19

45303637

+
intron-3CDSENST00000496125ENST00000341505PPP1R37chr19

45646891

+CBLCchr19

45303637

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PPP1R37-CBLC


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PPP1R37chr1945646891+CBLCchr1945303637+0.004431530.99556845
PPP1R37chr1945646891+CBLCchr1945303637+0.004431530.99556845
PPP1R37chr1945645716+CBLCchr1945303637+0.0008312720.99916875
PPP1R37chr1945645716+CBLCchr1945303637+0.0008312720.99916875
PPP1R37chr1945646891+CBLCchr1945303637+0.004431530.99556845
PPP1R37chr1945646891+CBLCchr1945303637+0.004431530.99556845
PPP1R37chr1945645716+CBLCchr1945303637+0.0008312720.99916875
PPP1R37chr1945645716+CBLCchr1945303637+0.0008312720.99916875

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PPP1R37-CBLC


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45646891/:45303637)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP1R37

O75864

CBLC

Q9ULV8

FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. {ECO:0000269|PubMed:19389623}.FUNCTION: Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival. {ECO:0000269|PubMed:10362357, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:18753381, ECO:0000269|PubMed:20525694, ECO:0000269|PubMed:23145173}.

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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Fusion Gene Sequence for PPP1R37-CBLC


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PPP1R37-CBLC


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


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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Related Drugs for PPP1R37-CBLC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PPP1R37-CBLC


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