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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:CBL-ATP5L (FusionGDB2 ID:HG867TG10632)

Fusion Gene Summary for CBL-ATP5L

check button Fusion gene summary
Fusion gene informationFusion gene name: CBL-ATP5L
Fusion gene ID: hg867tg10632
HgeneTgene
Gene symbol

CBL

ATP5L

Gene ID

867

10632

Gene nameCbl proto-oncogeneATP synthase membrane subunit g
SynonymsC-CBL|CBL2|FRA11B|NSLL|RNF55ATP5JG|ATP5L
Cytomap('CBL')('ATP5L')

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 siATP synthase subunit g, mitochondrialATP synthase g chain, mitochondrialATP synthase, H+ transporting, mitochondrial F0 complex, subunit GATP synthase, H+ transporting, mitochondrial F1F0, subunit gATP synthase, H+ transporting, mitochondrial Fo compl
Modification date2020032720200313
UniProtAcc

P22681

.
Ensembl transtripts involved in fusion geneENST00000264033, 
Fusion gene scores* DoF score13 X 8 X 8=8324 X 5 X 5=100
# samples 186
** MAII scorelog2(18/832*10)=-2.20858662181142
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBL [Title/Abstract] AND ATP5L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCBL(119077322)-ATP5L(118277651), # samples:1
CBL(119077322)-ATP5L(118272223), # samples:1
Anticipated loss of major functional domain due to fusion event.CBL-ATP5L seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CBL-ATP5L seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CBL-ATP5L seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneATP5L

GO:0042776

mitochondrial ATP synthesis coupled proton transport

12110673



check button Fusion gene information
* 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
ChimerDB4OVTCGA-59-A5PD-01ACBLchr11

119077322

+ATP5Lchr11

118272223

+
ChimerDB4OVTCGA-59-A5PDCBLchr11

119077322

+ATP5Lchr11

118277651

+


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Fusion Gene ORF analysis for CBL-ATP5L

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
5CDS-3UTRENST00000264033ENST00000524422CBLchr11

119077322

+ATP5Lchr11

118277651

+
5CDS-3UTRENST00000264033ENST00000529770CBLchr11

119077322

+ATP5Lchr11

118277651

+
5CDS-5UTRENST00000264033ENST00000300688CBLchr11

119077322

+ATP5Lchr11

118272223

+
5CDS-intronENST00000264033ENST00000524422CBLchr11

119077322

+ATP5Lchr11

118272223

+
5CDS-intronENST00000264033ENST00000529770CBLchr11

119077322

+ATP5Lchr11

118272223

+
Frame-shiftENST00000264033ENST00000300688CBLchr11

119077322

+ATP5Lchr11

118277651

+

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 CBL-ATP5L


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)
CBLchr11119077322+ATP5Lchr11118277651+4.66E-101
CBLchr11119077322+ATP5Lchr11118277651+4.66E-101


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 CBL-ATP5L


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/:119077322/:118277651)
- 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
CBL

P22681

.
FUNCTION: Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. 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 (PubMed:17094949). Ubiquitinates SPRY2 (PubMed:17094949, PubMed:17974561). Ubiquitinates EGFR (PubMed:17974561). Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The 'Tyr-731' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity). {ECO:0000250|UniProtKB:P22682, ECO:0000269|PubMed:10514377, ECO:0000269|PubMed:11896602, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:14739300, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:17094949, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17974561, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19689429, ECO:0000269|PubMed:21596750}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 CBL-ATP5L


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 CBL-ATP5L


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 CBL-ATP5L


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 CBL-ATP5L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCBLC3150803NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCBLC0349639Juvenile Myelomonocytic Leukemia5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCBLC0008073Developmental Disabilities1CTD_human
HgeneCBLC0010417Cryptorchidism1CTD_human
HgeneCBLC0018273Growth Disorders1CTD_human
HgeneCBLC0021364Male infertility1CTD_human
HgeneCBLC0028326Noonan Syndrome1GENOMICS_ENGLAND
HgeneCBLC0042384Vasculitis1CTD_human
HgeneCBLC0085996Child Development Deviations1CTD_human
HgeneCBLC0085997Child Development Disorders, Specific1CTD_human
HgeneCBLC0431663Bilateral Cryptorchidism1CTD_human
HgeneCBLC0431664Unilateral Cryptorchidism1CTD_human
HgeneCBLC0848676Subfertility, Male1CTD_human
HgeneCBLC0917731Male sterility1CTD_human
HgeneCBLC1563730Abdominal Cryptorchidism1CTD_human
HgeneCBLC1563731Inguinal Cryptorchidism1CTD_human
HgeneCBLC4230920Fetal hydrops (in some patients)1GENOMICS_ENGLAND