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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:WDR6-BCAR1 (FusionGDB2 ID:99060)

Fusion Gene Summary for WDR6-BCAR1

check button Fusion gene summary
Fusion gene informationFusion gene name: WDR6-BCAR1
Fusion gene ID: 99060
HgeneTgene
Gene symbol

WDR6

BCAR1

Gene ID

11180

9564

Gene nameWD repeat domain 6BCAR1 scaffold protein, Cas family member
Synonyms-CAS|CAS1|CASS1|CRKAS|P130Cas
Cytomap

3p21.31

16q23.1

Type of geneprotein-codingprotein-coding
DescriptionWD repeat-containing protein 6breast cancer anti-estrogen resistance protein 1BCAR1, Cas family scaffold proteinBCAR1, Cas family scaffolding proteinCas scaffolding protein family member 1Crk-associated substrate p130Cas
Modification date2020032020200327
UniProtAcc.

P56945

Ensembl transtripts involved in fusion geneENST00000489684, ENST00000395474, 
ENST00000415265, ENST00000608424, 
ENST00000448293, 		ENST00000162330, 
ENST00000546196, ENST00000393420, 
ENST00000393422, ENST00000418647, 
ENST00000420641, ENST00000535626, 
ENST00000538440, ENST00000542031, 
ENST00000566982, 
Fusion gene scores* DoF score8 X 4 X 5=1606 X 4 X 4=96
# samples 86
** MAII scorelog2(8/160*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WDR6 [Title/Abstract] AND BCAR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointWDR6(49044964)-BCAR1(75269884), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneWDR6

GO:0007050

cell cycle arrest

17216128

HgeneWDR6

GO:0008285

negative regulation of cell proliferation

17216128

TgeneBCAR1

GO:0007015

actin filament organization

16105984

TgeneBCAR1

GO:0007229

integrin-mediated signaling pathway

8649368

TgeneBCAR1

GO:0010595

positive regulation of endothelial cell migration

21245381

TgeneBCAR1

GO:0016477

cell migration

9425168

TgeneBCAR1

GO:0030335

positive regulation of cell migration

9472046

TgeneBCAR1

GO:0050851

antigen receptor-mediated signaling pathway

10587647

TgeneBCAR1

GO:0050853

B cell receptor signaling pathway

9020138

TgeneBCAR1

GO:0086100

endothelin receptor signaling pathway

19086031


check buttonFusion gene breakpoints across WDR6 (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 BCAR1 (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
ChimerDB4Non-CancerTCGA-HU-A4GC-11AWDR6chr3

49044964

+BCAR1chr16

75269884

-


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Fusion Gene ORF analysis for WDR6-BCAR1

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
3UTR-3CDSENST00000489684ENST00000162330WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-3CDSENST00000489684ENST00000546196WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000393420WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000393422WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000418647WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000420641WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000535626WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000538440WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000542031WDR6chr3

49044964

+BCAR1chr16

75269884

-
3UTR-5UTRENST00000489684ENST00000566982WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000393420WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000393422WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000418647WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000420641WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000535626WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000538440WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000542031WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000395474ENST00000566982WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000393420WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000393422WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000418647WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000420641WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000535626WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000538440WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000542031WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000415265ENST00000566982WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000393420WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000393422WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000418647WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000420641WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000535626WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000538440WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000542031WDR6chr3

49044964

+BCAR1chr16

75269884

-
5CDS-5UTRENST00000608424ENST00000566982WDR6chr3

49044964

+BCAR1chr16

75269884

-
Frame-shiftENST00000395474ENST00000162330WDR6chr3

49044964

+BCAR1chr16

75269884

-
Frame-shiftENST00000395474ENST00000546196WDR6chr3

49044964

+BCAR1chr16

75269884

-
Frame-shiftENST00000415265ENST00000162330WDR6chr3

49044964

+BCAR1chr16

75269884

-
Frame-shiftENST00000415265ENST00000546196WDR6chr3

49044964

+BCAR1chr16

75269884

-
Frame-shiftENST00000608424ENST00000162330WDR6chr3

49044964

+BCAR1chr16

75269884

-
Frame-shiftENST00000608424ENST00000546196WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-3CDSENST00000448293ENST00000162330WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-3CDSENST00000448293ENST00000546196WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000393420WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000393422WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000418647WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000420641WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000535626WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000538440WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000542031WDR6chr3

49044964

+BCAR1chr16

75269884

-
intron-5UTRENST00000448293ENST00000566982WDR6chr3

49044964

+BCAR1chr16

75269884

-

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 WDR6-BCAR1


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 WDR6-BCAR1


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/:49044964/:75269884)
- 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

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}.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}.

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 WDR6-BCAR1


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 WDR6-BCAR1


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 WDR6-BCAR1


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 WDR6-BCAR1


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