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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: 3883

FusionGeneSummary for BBC3_BBC3

check button Fusion gene summary
Fusion gene informationFusion gene name: BBC3_BBC3
Fusion gene ID: 3883
HgeneTgene
Gene symbol

BBC3

BBC3

Gene ID

27113

27113

Gene nameBCL2 binding component 3BCL2 binding component 3
SynonymsJFY-1|JFY1|PUMAJFY-1|JFY1|PUMA
Cytomap

19q13.32

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-binding component 3p53 up-regulated modulator of apoptosisp53-upregulated modulator of apoptosisbcl-2-binding component 3p53 up-regulated modulator of apoptosisp53-upregulated modulator of apoptosis
Modification date2018052720180527
UniProtAcc

Q9BXH1

Q9BXH1

Ensembl transtripts involved in fusion geneENST00000300880, ENST00000449228, 
ENST00000341983, ENST00000439096, 
ENST00000300880, ENST00000449228, 
ENST00000341983, ENST00000439096, 
Fusion gene scores* DoF score1 X 2 X 1=22 X 3 X 1=6
# samples 23
** MAII scorelog2(2/2*10)=3.32192809488736log2(3/6*10)=2.32192809488736
Context

PubMed: BBC3 [Title/Abstract] AND BBC3 [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
ChiTaRS3.1BI062677BBC3chr19

47735414

+BBC3chr19

47732819

-
ChiTaRS3.1BE003123BBC3chr19

47725330

-BBC3chr19

47733364

-
* 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
intron-intronENST00000300880ENST00000300880BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000300880ENST00000449228BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000300880ENST00000341983BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000300880ENST00000439096BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000449228ENST00000300880BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000449228ENST00000449228BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000449228ENST00000341983BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000449228ENST00000439096BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000341983ENST00000300880BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000341983ENST00000449228BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000341983ENST00000341983BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000341983ENST00000439096BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000439096ENST00000300880BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000439096ENST00000449228BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000439096ENST00000341983BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000439096ENST00000439096BBC3chr19

47735414

+BBC3chr19

47732819

-
intron-intronENST00000300880ENST00000300880BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000300880ENST00000449228BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000300880ENST00000341983BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000300880ENST00000439096BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000449228ENST00000300880BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000449228ENST00000449228BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000449228ENST00000341983BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000449228ENST00000439096BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000341983ENST00000300880BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000341983ENST00000449228BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000341983ENST00000341983BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000341983ENST00000439096BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000439096ENST00000300880BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000439096ENST00000449228BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000439096ENST00000341983BBC3chr19

47725330

-BBC3chr19

47733364

-
intron-intronENST00000439096ENST00000439096BBC3chr19

47725330

-BBC3chr19

47733364

-

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FusionProtFeatures for BBC3_BBC3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BBC3

Q9BXH1

BBC3

Q9BXH1

Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Functions by promoting partial unfolding ofBCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ERstress-induced neuronal apoptosis. {ECO:0000269|PubMed:11463391,ECO:0000269|PubMed:23340338}. Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis. Functions by promoting partial unfolding ofBCL2L1 and dissociation of BCL2L1 from p53/TP53. Regulates ERstress-induced neuronal apoptosis. {ECO:0000269|PubMed:11463391,ECO:0000269|PubMed:23340338}.

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 BBC3_BBC3


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 BBC3_BBC3


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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RelatedDrugs for BBC3_BBC3


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 BBC3_BBC3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBBC3C0006413Burkitt Lymphoma1CTD_human
HgeneBBC3C0007786Brain Ischemia1CTD_human
HgeneBBC3C0014859Esophageal Neoplasms1CTD_human
TgeneBBC3C0006413Burkitt Lymphoma1CTD_human
TgeneBBC3C0007786Brain Ischemia1CTD_human
TgeneBBC3C0014859Esophageal Neoplasms1CTD_human