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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CLPTM1-CBLC

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CLPTM1-CBLC
FusionPDB ID: 17302
FusionGDB2.0 ID: 17302
HgeneTgene
Gene symbol

CLPTM1

CBLC

Gene ID

1209

23624

Gene nameCLPTM1 regulator of GABA type A receptor forward traffickingCbl proto-oncogene C
Synonyms-CBL-3|CBL-SL|RNF57
Cytomap

19q13.32

19q13.32

Type of geneprotein-codingprotein-coding
Descriptioncleft lip and palate transmembrane protein 1CLPTM1, transmembrane proteincleft lip and palate associated transmembrane protein 1E3 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

Q96KA5

Q9ULV8

Ensembl transtripts involved in fusion geneENST idsENST00000546079, ENST00000337392, 
ENST00000541297, ENST00000589158, 
ENST00000270279, ENST00000341505, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 12 X 8=15364 X 7 X 2=56
# samples 207
** MAII scorelog2(20/1536*10)=-2.94110631094643
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 (manual curation of fusion genes in FusionPDB)

PubMed: CLPTM1 [Title/Abstract] AND CBLC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CLPTM1(45465332)-CBLC(45293261), # samples:2
Anticipated loss of major functional domain due to fusion event.CLPTM1-CBLC seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CLPTM1-CBLC seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CLPTM1-CBLC seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CLPTM1-CBLC seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
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 CLPTM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-VQ-A8P3-01ACLPTM1chr19

45465332

-CBLCchr19

45293261

+
ChimerDB4STADTCGA-VQ-A8P3-01ACLPTM1chr19

45465332

+CBLCchr19

45293261

+
ChimerDB4STADTCGA-VQ-A8P3CLPTM1chr19

45465332

+CBLCchr19

45293260

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000541297CLPTM1chr1945465332+ENST00000341505CBLCchr1945293260+12076084651115216
ENST00000541297CLPTM1chr1945465332+ENST00000270279CBLCchr1945293260+12076084651115216
ENST00000337392CLPTM1chr1945465332+ENST00000341505CBLCchr1945293260+93433587842251
ENST00000337392CLPTM1chr1945465332+ENST00000270279CBLCchr1945293260+93433587842251
ENST00000541297CLPTM1chr1945465332+ENST00000341505CBLCchr1945293261+12076084651115216
ENST00000541297CLPTM1chr1945465332+ENST00000270279CBLCchr1945293261+12076084651115216
ENST00000337392CLPTM1chr1945465332+ENST00000341505CBLCchr1945293261+93433587842251
ENST00000337392CLPTM1chr1945465332+ENST00000270279CBLCchr1945293261+93433587842251

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
ENST00000541297ENST00000341505CLPTM1chr1945465332+CBLCchr1945293260+0.042664940.95733505
ENST00000541297ENST00000270279CLPTM1chr1945465332+CBLCchr1945293260+0.042664940.95733505
ENST00000337392ENST00000341505CLPTM1chr1945465332+CBLCchr1945293260+0.0310868470.9689132
ENST00000337392ENST00000270279CLPTM1chr1945465332+CBLCchr1945293260+0.0310868470.9689132
ENST00000541297ENST00000341505CLPTM1chr1945465332+CBLCchr1945293261+0.042664940.95733505
ENST00000541297ENST00000270279CLPTM1chr1945465332+CBLCchr1945293261+0.042664940.95733505
ENST00000337392ENST00000341505CLPTM1chr1945465332+CBLCchr1945293261+0.0310868470.9689132
ENST00000337392ENST00000270279CLPTM1chr1945465332+CBLCchr1945293261+0.0310868470.9689132

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>17302_17302_1_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000337392_CBLC_chr19_45293260_ENST00000270279_length(amino acids)=251AA_BP=82
MRCEVGDGAGLAAGAGTRSGKMAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGK
THNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTFELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQ

--------------------------------------------------------------

>17302_17302_2_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000337392_CBLC_chr19_45293260_ENST00000341505_length(amino acids)=251AA_BP=82
MRCEVGDGAGLAAGAGTRSGKMAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGK
THNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTFELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQ

--------------------------------------------------------------

>17302_17302_3_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000337392_CBLC_chr19_45293261_ENST00000270279_length(amino acids)=251AA_BP=82
MRCEVGDGAGLAAGAGTRSGKMAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGK
THNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTFELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQ

--------------------------------------------------------------

>17302_17302_4_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000337392_CBLC_chr19_45293261_ENST00000341505_length(amino acids)=251AA_BP=82
MRCEVGDGAGLAAGAGTRSGKMAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGK
THNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTFELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQ

--------------------------------------------------------------

>17302_17302_5_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000541297_CBLC_chr19_45293260_ENST00000270279_length(amino acids)=216AA_BP=47
MSRKAHITEKVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGKTHNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTF
ELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQFHGQATAEDSGNSSDQEGRELELGQVPLSAPPLPP

--------------------------------------------------------------

>17302_17302_6_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000541297_CBLC_chr19_45293260_ENST00000341505_length(amino acids)=216AA_BP=47
MSRKAHITEKVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGKTHNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTF
ELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQFHGQATAEDSGNSSDQEGRELELGQVPLSAPPLPP

--------------------------------------------------------------

>17302_17302_7_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000541297_CBLC_chr19_45293261_ENST00000270279_length(amino acids)=216AA_BP=47
MSRKAHITEKVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGKTHNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTF
ELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQFHGQATAEDSGNSSDQEGRELELGQVPLSAPPLPP

--------------------------------------------------------------

>17302_17302_8_CLPTM1-CBLC_CLPTM1_chr19_45465332_ENST00000541297_CBLC_chr19_45293261_ENST00000341505_length(amino acids)=216AA_BP=47
MSRKAHITEKVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFSYLYPDGKTHNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTF
ELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQFHGQATAEDSGNSSDQEGRELELGQVPLSAPPLPP

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr19:45465332/chr19:45293261)
- 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
CLPTM1

Q96KA5

CBLC

Q9ULV8

FUNCTION: Enhances cisplatin-mediated apoptosis, when overexpressed. {ECO:0000269|PubMed:11162647}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCBLCchr19:45465332chr19:45293260ENST00000270279411322_350305.6666666666667364.3333333333333RegionNote=Linker
TgeneCBLCchr19:45465332chr19:45293260ENST00000341505310322_350259.6666666666667318.3333333333333RegionNote=Linker
TgeneCBLCchr19:45465332chr19:45293261ENST00000270279411322_350305.6666666666667364.3333333333333RegionNote=Linker
TgeneCBLCchr19:45465332chr19:45293261ENST00000341505310322_350259.6666666666667318.3333333333333RegionNote=Linker
TgeneCBLCchr19:45465332chr19:45293260ENST00000270279411351_390305.6666666666667364.3333333333333Zinc fingerRING-type
TgeneCBLCchr19:45465332chr19:45293260ENST00000341505310351_390259.6666666666667318.3333333333333Zinc fingerRING-type
TgeneCBLCchr19:45465332chr19:45293261ENST00000270279411351_390305.6666666666667364.3333333333333Zinc fingerRING-type
TgeneCBLCchr19:45465332chr19:45293261ENST00000341505310351_390259.6666666666667318.3333333333333Zinc fingerRING-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+2142_35461.666666666666664670.0Topological domainExtracellular
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214376_39061.666666666666664670.0Topological domainCytoplasmic
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214412_41661.666666666666664670.0Topological domainExtracellular
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214438_47761.666666666666664670.0Topological domainCytoplasmic
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214499_50261.666666666666664670.0Topological domainExtracellular
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214524_66961.666666666666664670.0Topological domainCytoplasmic
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+2142_35461.666666666666664670.0Topological domainExtracellular
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214376_39061.666666666666664670.0Topological domainCytoplasmic
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214412_41661.666666666666664670.0Topological domainExtracellular
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214438_47761.666666666666664670.0Topological domainCytoplasmic
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214499_50261.666666666666664670.0Topological domainExtracellular
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214524_66961.666666666666664670.0Topological domainCytoplasmic
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214355_37561.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214391_41161.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214417_43761.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214478_49861.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293260ENST00000337392+214503_52361.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214355_37561.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214391_41161.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214417_43761.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214478_49861.666666666666664670.0TransmembraneHelical
HgeneCLPTM1chr19:45465332chr19:45293261ENST00000337392+214503_52361.666666666666664670.0TransmembraneHelical
TgeneCBLCchr19:45465332chr19:45293260ENST00000270279411199_210305.6666666666667364.3333333333333Calcium binding.
TgeneCBLCchr19:45465332chr19:45293260ENST00000341505310199_210259.6666666666667318.3333333333333Calcium binding.
TgeneCBLCchr19:45465332chr19:45293261ENST00000270279411199_210305.6666666666667364.3333333333333Calcium binding.
TgeneCBLCchr19:45465332chr19:45293261ENST00000341505310199_210259.6666666666667318.3333333333333Calcium binding.
TgeneCBLCchr19:45465332chr19:45293260ENST000002702794117_321305.6666666666667364.3333333333333DomainCbl-PTB
TgeneCBLCchr19:45465332chr19:45293260ENST000003415053107_321259.6666666666667318.3333333333333DomainCbl-PTB
TgeneCBLCchr19:45465332chr19:45293261ENST000002702794117_321305.6666666666667364.3333333333333DomainCbl-PTB
TgeneCBLCchr19:45465332chr19:45293261ENST000003415053107_321259.6666666666667318.3333333333333DomainCbl-PTB
TgeneCBLCchr19:45465332chr19:45293260ENST00000270279411146_218305.6666666666667364.3333333333333RegionNote=EF-hand-like
TgeneCBLCchr19:45465332chr19:45293260ENST00000270279411219_321305.6666666666667364.3333333333333RegionNote=SH2-like
TgeneCBLCchr19:45465332chr19:45293260ENST000002702794117_145305.6666666666667364.3333333333333RegionNote=4H
TgeneCBLCchr19:45465332chr19:45293260ENST00000341505310146_218259.6666666666667318.3333333333333RegionNote=EF-hand-like
TgeneCBLCchr19:45465332chr19:45293260ENST00000341505310219_321259.6666666666667318.3333333333333RegionNote=SH2-like
TgeneCBLCchr19:45465332chr19:45293260ENST000003415053107_145259.6666666666667318.3333333333333RegionNote=4H
TgeneCBLCchr19:45465332chr19:45293261ENST00000270279411146_218305.6666666666667364.3333333333333RegionNote=EF-hand-like
TgeneCBLCchr19:45465332chr19:45293261ENST00000270279411219_321305.6666666666667364.3333333333333RegionNote=SH2-like
TgeneCBLCchr19:45465332chr19:45293261ENST000002702794117_145305.6666666666667364.3333333333333RegionNote=4H
TgeneCBLCchr19:45465332chr19:45293261ENST00000341505310146_218259.6666666666667318.3333333333333RegionNote=EF-hand-like
TgeneCBLCchr19:45465332chr19:45293261ENST00000341505310219_321259.6666666666667318.3333333333333RegionNote=SH2-like
TgeneCBLCchr19:45465332chr19:45293261ENST000003415053107_145259.6666666666667318.3333333333333RegionNote=4H


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CLPTM1
CBLC


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CLPTM1-CBLC


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CLPTM1-CBLC


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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