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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:TRIP12-BARD1 (FusionGDB2 ID:HG9320TG580)

Fusion Gene Summary for TRIP12-BARD1

check button Fusion gene summary
Fusion gene informationFusion gene name: TRIP12-BARD1
Fusion gene ID: hg9320tg580
HgeneTgene
Gene symbol

TRIP12

BARD1

Gene ID

9320

580

Gene namethyroid hormone receptor interactor 12BRCA1 associated RING domain 1
SynonymsMRD49|TRIP-12|TRIPC|ULF-
Cytomap('TRIP12')('BARD1')

2q36.3

2q35

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase TRIP12E3 ubiquitin-protein ligase for ArfHECT-type E3 ubiquitin transferase TRIP12TR-interacting protein 12probable E3 ubiquitin-protein ligase TRIP12thyroid receptor interacting protein 12BRCA1-associated RING domain protein 1BRCA1-associated RING domain gene 1RING-type E3 ubiquitin transferase BARD1
Modification date2020031320200322
UniProtAcc.

Q99728

Ensembl transtripts involved in fusion geneENST00000283943, ENST00000389044, 
ENST00000389045, ENST00000409677, 
ENST00000543084, 
Fusion gene scores* DoF score20 X 18 X 15=54004 X 4 X 3=48
# samples 294
** MAII scorelog2(29/5400*10)=-4.21883460192326
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TRIP12 [Title/Abstract] AND BARD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTRIP12(230744698)-BARD1(215595232), # samples:2
Anticipated loss of major functional domain due to fusion event.TRIP12-BARD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TRIP12-BARD1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
TRIP12-BARD1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
TRIP12-BARD1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneTRIP12

GO:0000209

protein polyubiquitination

30982744

HgeneTRIP12

GO:0006511

ubiquitin-dependent protein catabolic process

18627766|20208519|30982744

TgeneBARD1

GO:0046826

negative regulation of protein export from nucleus

15265711

TgeneBARD1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172



check button Fusion gene information
* 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
ChimerDB4LUADTCGA-86-7953-01ATRIP12chr2

230744698

-BARD1chr2

215595232

-


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Fusion Gene ORF analysis for TRIP12-BARD1

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-intronENST00000283943ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000389044ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000389045ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000409677ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000543084ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000283943ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000283943ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000283943ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000389044ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000389044ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000389044ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000389045ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000389045ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000389045ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000409677ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000409677ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000409677ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000543084ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000543084ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shiftENST00000543084ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-

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 TRIP12-BARD1


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)


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Fusion Protein Features for TRIP12-BARD1


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/:230744698/:215595232)
- 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
.BARD1

Q99728

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: E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP 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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Fusion Gene Sequence for TRIP12-BARD1


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 TRIP12-BARD1


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 TRIP12-BARD1


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 TRIP12-BARD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTRIP12C4540324MENTAL RETARDATION, AUTOSOMAL DOMINANT 492GENOMICS_ENGLAND;UNIPROT
HgeneTRIP12C0018817Atrial Septal Defects1GENOMICS_ENGLAND
HgeneTRIP12C1510586Autism Spectrum Disorders1GENOMICS_ENGLAND
HgeneTRIP12C1535926Neurodevelopmental Disorders1CTD_human
HgeneTRIP12C1862389ATRIAL SEPTAL DEFECT 11GENOMICS_ENGLAND
TgeneC0346153Breast Cancer, Familial11CLINGEN
TgeneC0009405Hereditary Nonpolyposis Colorectal Neoplasms4CLINGEN
TgeneC1112155Hereditary non-polyposis colorectal cancer syndrome4CLINGEN
TgeneC1333990Hereditary Nonpolyposis Colorectal Cancer4CLINGEN
TgeneC1333991Hereditary Non-Polyposis Colon Cancer Type 24CLINGEN
TgeneC2936783Colorectal cancer, hereditary nonpolyposis, type 14CLINGEN
TgeneC0027819Neuroblastoma2CTD_human
TgeneC0677776Hereditary Breast and Ovarian Cancer Syndrome1ORPHANET