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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:PPFIA1-CBLB (FusionGDB2 ID:66970)

Fusion Gene Summary for PPFIA1-CBLB

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIA1-CBLB
Fusion gene ID: 66970
HgeneTgene
Gene symbol

PPFIA1

CBLB

Gene ID

8500

868

Gene namePTPRF interacting protein alpha 1Cbl proto-oncogene B
SynonymsLIP.1|LIP1|LIPRINCbl-b|Nbla00127|RNF56
Cytomap

11q13.3

3q13.11

Type of geneprotein-codingprotein-coding
Descriptionliprin-alpha-1LAR-interacting protein 1LIP-1Liprin-alpha1protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1E3 ubiquitin-protein ligase CBL-BCas-Br-M (murine) ecotropic retroviral transforming sequence bCbl proto-oncogene B, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase BRING finger protein 56RING-type E3 ubiquitin transferase
Modification date2020032720200327
UniProtAcc.

Q13191

Ensembl transtripts involved in fusion geneENST00000253925, ENST00000389547, 
ENST00000530548, 		ENST00000264122, 
ENST00000407712, ENST00000394027, 
ENST00000403724, ENST00000405772, 
ENST00000545639, 
Fusion gene scores* DoF score44 X 20 X 15=1320013 X 14 X 7=1274
# samples 6016
** MAII scorelog2(60/13200*10)=-4.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1274*10)=-2.99322146736894
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPFIA1 [Title/Abstract] AND CBLB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPFIA1(70208594)-CBLB(105459475), # samples:4
Anticipated loss of major functional domain due to fusion event.PPFIA1-CBLB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PPFIA1-CBLB seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
PPFIA1-CBLB 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

check buttonFusion gene breakpoints across PPFIA1 (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 CBLB (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
ChimerDB4BRCATCGA-AQ-A04H-01BPPFIA1chr11

70208594

+CBLBchr3

105459475

-
ChimerDB4BRCATCGA-AQ-A04HPPFIA1chr11

70208594

+CBLBchr3

105459475

-
ChimerDB4BRCATCGA-AQ-A04H-01BPPFIA1chr11

70208594

+CBLBchr3

105459475

-
ChimerDB4BRCATCGA-AQ-A04H-01BPPFIA1chr11

70208594

-CBLBchr3

105459475

-


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Fusion Gene ORF analysis for PPFIA1-CBLB

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-shiftENST00000253925ENST00000264122PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000253925ENST00000407712PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000253925ENST00000394027PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000253925ENST00000403724PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000253925ENST00000405772PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-3UTRENST00000253925ENST00000545639PPFIA1chr11

70208594

+CBLBchr3

105459475

-
Frame-shiftENST00000389547ENST00000264122PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000389547ENST00000407712PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000389547ENST00000394027PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000389547ENST00000403724PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-intronENST00000389547ENST00000405772PPFIA1chr11

70208594

+CBLBchr3

105459475

-
5CDS-3UTRENST00000389547ENST00000545639PPFIA1chr11

70208594

+CBLBchr3

105459475

-
intron-3CDSENST00000530548ENST00000264122PPFIA1chr11

70208594

+CBLBchr3

105459475

-
intron-intronENST00000530548ENST00000407712PPFIA1chr11

70208594

+CBLBchr3

105459475

-
intron-intronENST00000530548ENST00000394027PPFIA1chr11

70208594

+CBLBchr3

105459475

-
intron-intronENST00000530548ENST00000403724PPFIA1chr11

70208594

+CBLBchr3

105459475

-
intron-intronENST00000530548ENST00000405772PPFIA1chr11

70208594

+CBLBchr3

105459475

-
intron-3UTRENST00000530548ENST00000545639PPFIA1chr11

70208594

+CBLBchr3

105459475

-

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 PPFIA1-CBLB


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)

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.

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Fusion Protein Features for PPFIA1-CBLB


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q13191

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.FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. Slightly promotes SRC ubiquitination. May be involved in EGFR ubiquitination and internalization. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBL, 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:Q3TTA7, ECO:0000269|PubMed:10022120, ECO:0000269|PubMed:10086340, ECO:0000269|PubMed:11087752, ECO:0000269|PubMed:11526404, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:20525694}.

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 PPFIA1-CBLB


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 PPFIA1-CBLB


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 PPFIA1-CBLB


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 PPFIA1-CBLB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCBLBC0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneCBLBC0026769Multiple Sclerosis1CTD_human
TgeneCBLBC0751324Multiple Sclerosis, Acute Fulminating1CTD_human