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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4060

FusionGeneSummary for BCL9_BEST3

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL9_BEST3
Fusion gene ID: 4060
HgeneTgene
Gene symbol

BCL9

BEST3

Gene ID

607

144453

Gene nameB cell CLL/lymphoma 9bestrophin 3
SynonymsLGSVMD2L3
Cytomap

1q21.2

12q15

Type of geneprotein-codingprotein-coding
DescriptionB-cell CLL/lymphoma 9 proteinB-cell lymphoma 9 proteinbcl-9protein legless homologbestrophin-3vitelliform macular dystrophy 2-like 3vitelliform macular dystrophy 2-like protein 3
Modification date2018051920180523
UniProtAcc

O00512

Q8N1M1

Ensembl transtripts involved in fusion geneENST00000234739, ENST00000473292, 
ENST00000331471, ENST00000488961, 
ENST00000330891, ENST00000553096, 
ENST00000476098, ENST00000266661, 
ENST00000551160, ENST00000393365, 
ENST00000533674, 
Fusion gene scores* DoF score6 X 3 X 3=5410 X 6 X 5=300
# samples 510
** MAII scorelog2(5/54*10)=-0.111031312388744
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/300*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCL9 [Title/Abstract] AND BEST3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-FX-A2QS-01ABCL9chr1

147013444

+BEST3chr12

70049593

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-intronENST00000234739ENST00000331471BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000488961BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000330891BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000553096BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000476098BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000266661BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000551160BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000393365BCL9chr1

147013444

+BEST3chr12

70049593

-
5UTR-intronENST00000234739ENST00000533674BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000331471BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000488961BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000330891BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000553096BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000476098BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000266661BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000551160BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000393365BCL9chr1

147013444

+BEST3chr12

70049593

-
intron-intronENST00000473292ENST00000533674BCL9chr1

147013444

+BEST3chr12

70049593

-

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FusionProtFeatures for BCL9_BEST3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCL9

O00512

BEST3

Q8N1M1

Involved in signal transduction through the Wnt pathway.Promotes beta-catenin's transcriptional activity (By similarity).{ECO:0000250, ECO:0000269|PubMed:11955446}. Forms calcium-sensitive chloride channels. Permeable tobicarbonate. {ECO:0000269|PubMed:12907679}.

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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FusionGeneSequence for BCL9_BEST3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BCL9_BEST3


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
BCL9PYGO1, ELAVL1, PYGO2, WWOX, CTNNB1, EWSR1, TRIM25BEST3


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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RelatedDrugs for BCL9_BEST3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BCL9_BEST3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCL9C0036341Schizophrenia2PSYGENET
HgeneBCL9C0005586Bipolar Disorder1PSYGENET
HgeneBCL9C0033975Psychotic Disorders1PSYGENET
HgeneBCL9C0041696Unipolar Depression1PSYGENET
HgeneBCL9C0919267ovarian neoplasm1CTD_human
HgeneBCL9C1269683Major Depressive Disorder1PSYGENET