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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:BCAR1-CFDP1 (FusionGDB2 ID:9159)

Fusion Gene Summary for BCAR1-CFDP1

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAR1-CFDP1
Fusion gene ID: 9159
HgeneTgene
Gene symbol

BCAR1

CFDP1

Gene ID

9564

10428

Gene nameBCAR1 scaffold protein, Cas family membercraniofacial development protein 1
SynonymsCAS|CAS1|CASS1|CRKAS|P130CasBCNT|BUCENTAUR|CENP-29|CP27|SWC5|Yeti|p97
Cytomap

16q23.1

16q23.1

Type of geneprotein-codingprotein-coding
Descriptionbreast cancer anti-estrogen resistance protein 1BCAR1, Cas family scaffold proteinBCAR1, Cas family scaffolding proteinCas scaffolding protein family member 1Crk-associated substrate p130Cascraniofacial development protein 1centromere protein 29phosphoprotein (Bucentaur)
Modification date2020032720200313
UniProtAcc

P56945

Q9UEE9

Ensembl transtripts involved in fusion geneENST00000162330, ENST00000393420, 
ENST00000393422, ENST00000418647, 
ENST00000420641, ENST00000538440, 
ENST00000542031, ENST00000546196, 
ENST00000535626, ENST00000566982, 
ENST00000564286, ENST00000283882, 
Fusion gene scores* DoF score4 X 4 X 5=8017 X 11 X 11=2057
# samples 629
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(29/2057*10)=-2.82641698851
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCAR1 [Title/Abstract] AND CFDP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCAR1(75276368)-CFDP1(75327940), # samples:3
Anticipated loss of major functional domain due to fusion event.BCAR1-CFDP1 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
HgeneBCAR1

GO:0007015

actin filament organization

16105984

HgeneBCAR1

GO:0007229

integrin-mediated signaling pathway

8649368

HgeneBCAR1

GO:0010595

positive regulation of endothelial cell migration

21245381

HgeneBCAR1

GO:0016477

cell migration

9425168

HgeneBCAR1

GO:0030335

positive regulation of cell migration

9472046

HgeneBCAR1

GO:0050851

antigen receptor-mediated signaling pathway

10587647

HgeneBCAR1

GO:0050853

B cell receptor signaling pathway

9020138

HgeneBCAR1

GO:0086100

endothelin receptor signaling pathway

19086031


check buttonFusion gene breakpoints across BCAR1 (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 CFDP1 (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
ChimerDB4LIHCTCGA-CC-5263-01ABCAR1chr16

75276368

-CFDP1chr16

75327940

-
ChimerDB4LIHCTCGA-G3-A3CG-01ABCAR1chr16

75299723

-CFDP1chr16

75339080

-
ChimerDB4LIHCTCGA-RC-A6M3-01ABCAR1chr16

75276368

-CFDP1chr16

75327940

-
ChimerDB4UCECTCGA-A5-A0G2-01ABCAR1chr16

75276368

-CFDP1chr16

75339080

-


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Fusion Gene ORF analysis for BCAR1-CFDP1

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-intronENST00000162330ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000162330ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000393420ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000393420ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000393422ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000393422ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000418647ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000418647ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000420641ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000420641ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000538440ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
5CDS-intronENST00000538440ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000538440ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000542031ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000542031ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5CDS-intronENST00000546196ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
5CDS-intronENST00000546196ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
5UTR-3CDSENST00000418647ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
5UTR-3CDSENST00000535626ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
5UTR-intronENST00000418647ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
5UTR-intronENST00000535626ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
Frame-shiftENST00000162330ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000162330ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000393420ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000393420ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000393422ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000393422ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000418647ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000418647ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000420641ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000420641ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000538440ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
Frame-shiftENST00000538440ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000538440ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000542031ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000542031ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
Frame-shiftENST00000546196ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
Frame-shiftENST00000546196ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
intron-3CDSENST00000162330ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000393420ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000393422ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000420641ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000535626ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
intron-3CDSENST00000535626ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
intron-3CDSENST00000542031ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000546196ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000566982ENST00000283882BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-3CDSENST00000566982ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75327940

-
intron-3CDSENST00000566982ENST00000283882BCAR1chr16

75276368

-CFDP1chr16

75339080

-
intron-intronENST00000162330ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000393420ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000393422ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000420641ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000535626ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
intron-intronENST00000535626ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-
intron-intronENST00000542031ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000546196ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000566982ENST00000564286BCAR1chr16

75299723

-CFDP1chr16

75339080

-
intron-intronENST00000566982ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75327940

-
intron-intronENST00000566982ENST00000564286BCAR1chr16

75276368

-CFDP1chr16

75339080

-

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 BCAR1-CFDP1


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 BCAR1-CFDP1


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/:75276368/:75327940)
- 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
BCAR1

P56945

CFDP1

Q9UEE9

FUNCTION: Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion (PubMed:12832404, PubMed:12432078). Implicated in induction of cell migration and cell branching (PubMed:12432078, PubMed:12832404, PubMed:17038317). Involved in the BCAR3-mediated inhibition of TGFB signaling (By similarity). {ECO:0000250|UniProtKB:Q61140, ECO:0000269|PubMed:12432078, ECO:0000269|PubMed:12832404, ECO:0000269|PubMed:17038317}.FUNCTION: May play a role during embryogenesis. {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 BCAR1-CFDP1


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 BCAR1-CFDP1


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 BCAR1-CFDP1


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 BCAR1-CFDP1


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