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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: 3838

FusionGeneSummary for BARD1_CASC4

check button Fusion gene summary
Fusion gene informationFusion gene name: BARD1_CASC4
Fusion gene ID: 3838
HgeneTgene
Gene symbol

BARD1

CASC4

Gene ID

580

113201

Gene nameBRCA1 associated RING domain 1cancer susceptibility 4
Synonyms-H63
Cytomap

2q35

15q15.3

Type of geneprotein-codingprotein-coding
DescriptionBRCA1-associated RING domain protein 1BRCA1-associated RING domain gene 1RING-type E3 ubiquitin transferase BARD1protein CASC4cancer susceptibility candidate 4cancer susceptibility candidate gene 4 proteingene associated with HER-2/neu overexpression
Modification date2018052220180519
UniProtAcc

Q99728

Q6P4E1

Ensembl transtripts involved in fusion geneENST00000260947, ENST00000449967, 
ENST00000432456, ENST00000471787, 
ENST00000299957, ENST00000360824, 
ENST00000345795, ENST00000429162, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 7 X 5=175
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/175*10)=-0.959358015502654
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BARD1 [Title/Abstract] AND CASC4 [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
HgeneBARD1

GO:0046826

negative regulation of protein export from nucleus

15265711

HgeneBARD1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172


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
ChiTaRS3.1BG168151BARD1chr2

215609547

-CASC4chr15

44706166

+
* 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-3UTRENST00000260947ENST00000299957BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000260947ENST00000360824BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000260947ENST00000345795BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-intronENST00000260947ENST00000429162BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000449967ENST00000299957BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000449967ENST00000360824BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000449967ENST00000345795BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-intronENST00000449967ENST00000429162BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000432456ENST00000299957BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000432456ENST00000360824BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000432456ENST00000345795BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-intronENST00000432456ENST00000429162BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000471787ENST00000299957BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000471787ENST00000360824BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-3UTRENST00000471787ENST00000345795BARD1chr2

215609547

-CASC4chr15

44706166

+
intron-intronENST00000471787ENST00000429162BARD1chr2

215609547

-CASC4chr15

44706166

+

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FusionProtFeatures for BARD1_CASC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BARD1

Q99728

CASC4

Q6P4E1

E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimerspecifically mediates the formation of 'Lys-6'-linkedpolyubiquitin chains and coordinates a diverse range of cellularpathways such as DNA damage repair, ubiquitination andtranscriptional regulation to maintain genomic stability. Plays acentral role in the control of the cell cycle in response to DNAdamage. Acts by mediating ubiquitin E3 ligase activity that isrequired for its tumor suppressor function. Also forms aheterodimer with CSTF1/CSTF-50 to modulate mRNA processing andRNAP II stability by inhibiting pre-mRNA 3' cleavage.{ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165,ECO:0000269|PubMed:20351172}.

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 BARD1_CASC4


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 BARD1_CASC4


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 BARD1_CASC4


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 BARD1_CASC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBARD1C0027819Neuroblastoma2CTD_human
TgeneCASC4C0001973Alcoholic Intoxication, Chronic1PSYGENET