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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:CBL-PHLDB1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CBL-PHLDB1
FusionPDB ID: 13401
FusionGDB2.0 ID: 13401
HgeneTgene
Gene symbol

CBL

PHLDB1

Gene ID

867

23187

Gene nameCbl proto-oncogenepleckstrin homology like domain family B member 1
SynonymsC-CBL|CBL2|FRA11B|NSLL|RNF55LL5A
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 sipleckstrin homology-like domain family B member 1LL5alphapleckstrin homology-like domain family B member 1 variant 3pleckstrin homology-like domain family B member 1 variant 4protein LL5-alpha
Modification date2020032720200320
UniProtAcc

Q8IUK8

.
Ensembl transtripts involved in fusion geneENST idsENST00000264033, ENST00000534672, 
ENST00000356063, ENST00000361417, 
ENST00000524713, ENST00000527898, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 8 X 8=8325 X 7 X 3=105
# samples 187
** MAII scorelog2(18/832*10)=-2.20858662181142
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CBL [Title/Abstract] AND PHLDB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CBL(119077322)-PHLDB1(118484531), # samples:2
CBL(119077322)-PHLDB1(118484530), # samples:2
Anticipated loss of major functional domain due to fusion event.CBL-PHLDB1 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.
CBL-PHLDB1 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.
CBL-PHLDB1 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.
CBL-PHLDB1 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

check buttonFusion gene breakpoints across CBL (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 PHLDB1 (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
ChimerDB4BRCATCGA-GM-A2DD-01ACBLchr11

119156276

-PHLDB1chr11

118514518

+
ChimerDB4ESCATCGA-L5-A4OQ-01ACBLchr11

119077322

-PHLDB1chr11

118484531

+
ChimerDB4ESCATCGA-L5-A4OQ-01ACBLchr11

119077322

+PHLDB1chr11

118484531

+
ChimerDB4ESCATCGA-L5-A4OQCBLchr11

119077322

+PHLDB1chr11

118484530

+


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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)
ENST00000264033CBLchr11119156276-ENST00000361417PHLDB1chr11118514518+4782231735235731073
ENST00000264033CBLchr11119156276-ENST00000356063PHLDB1chr11118514518+4743231735235401062

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
ENST00000264033ENST00000361417CBLchr11119156276-PHLDB1chr11118514518+0.0066226480.9933774
ENST00000264033ENST00000356063CBLchr11119156276-PHLDB1chr11118514518+0.0051550140.99484503

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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

>13401_13401_1_CBL-PHLDB1_CBL_chr11_119156276_ENST00000264033_PHLDB1_chr11_118514518_ENST00000356063_length(amino acids)=1062AA_BP=655
MGSDPAQAMAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNSPP
YILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSHMLAELKGIFPSG
LFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWSSLLRNWNSLA
VTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDLTGL
CEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSL
LRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKP
LPVPPTLRDLPPPPPPDRPYSVGAESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPF
SLPSQMEPRPDVPRLGSTFSLDTSMVYRSKMDGEATSPLPRTRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPRNLAA
TLQDIETKRQLALQQKGQQVIEEQRRRLAELKQKAAAEAQCQWDALHGAAPFPAGPSGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSL
ESSDSMETSISTGGNSACSPDNMSSASGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESARRQQL
VEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCRGYLVKMGGKIKSWKKRWFVFDRLKRTLSYYVDKH

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

>13401_13401_2_CBL-PHLDB1_CBL_chr11_119156276_ENST00000264033_PHLDB1_chr11_118514518_ENST00000361417_length(amino acids)=1073AA_BP=655
MGSDPAQAMAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNSPP
YILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSHMLAELKGIFPSG
LFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWSSLLRNWNSLA
VTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDLTGL
CEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSL
LRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKP
LPVPPTLRDLPPPPPPDRPYSVGAESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPF
SLPSQMEPRPDVPRLGSTFSLDTSMVYRSKMDGEATSPLPRTRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPRNLAA
TLQDIETKRQLALQQKGQQVIEEQRRRLAELKQKAAAEAQCQWDALHGAAPFPAGPSGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSL
ESSDSMETSISTGGNSACSPDNMSSASGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESARRQQL
VEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCRGYLVKMGGKIKSWKKRWFVFDRLKRTLSYYVDKH

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

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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/chr11:119077322/chr11:118484531)
- 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

Q8IUK8

.
FUNCTION: Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for long-term maintenance but not establishment of excitatory synapses (By similarity). {ECO:0000250|UniProtKB:Q8BGU2}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116227_240647.0907.0Calcium binding.
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116357_476647.0907.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-111647_351647.0907.0DomainCbl-PTB
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116176_248647.0907.0RegionNote=EF-hand-like
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116249_351647.0907.0RegionNote=SH2-like
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116352_380647.0907.0RegionNote=Linker
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-111647_175647.0907.0RegionNote=4H
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116381_420647.0907.0Zinc fingerRING-type
TgenePHLDB1chr11:119156276chr11:118514518ENST0000035606311211144_1208912.01320.0Coiled coilOntology_term=ECO:0000255
TgenePHLDB1chr11:119156276chr11:118514518ENST0000036141713241144_1208959.01378.0Coiled coilOntology_term=ECO:0000255
TgenePHLDB1chr11:119156276chr11:118514518ENST0000035606311211256_1370912.01320.0DomainPH
TgenePHLDB1chr11:119156276chr11:118514518ENST0000036141713241256_1370959.01378.0DomainPH

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116477_688647.0907.0Compositional biasNote=Pro-rich
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116689_834647.0907.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116856_895647.0907.0DomainUBA
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116358_906647.0907.0RegionRequired for ubiquitination of SPRED2
TgenePHLDB1chr11:119156276chr11:118514518ENST000003560631121683_809912.01320.0Coiled coilOntology_term=ECO:0000255
TgenePHLDB1chr11:119156276chr11:118514518ENST000003614171324683_809959.01378.0Coiled coilOntology_term=ECO:0000255
TgenePHLDB1chr11:119156276chr11:118514518ENST00000356063112164_125912.01320.0DomainNote=FHA
TgenePHLDB1chr11:119156276chr11:118514518ENST00000361417132464_125959.01378.0DomainNote=FHA


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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
CBLall structure
PHLDB1


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
HgeneCBLchr11:119156276chr11:118514518ENST00000264033-1116648_906647.0907.0CD2AP


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Related Drugs to CBL-PHLDB1


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 CBL-PHLDB1


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
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