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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: 39606

FusionGeneSummary for TRIP12_BARD1

check button Fusion gene summary
Fusion gene informationFusion gene name: TRIP12_BARD1
Fusion gene ID: 39606
HgeneTgene
Gene symbol

TRIP12

BARD1

Gene ID

9320

580

Gene namethyroid hormone receptor interactor 12BRCA1 associated RING domain 1
SynonymsMRD49|TRIP-12|ULF-
Cytomap

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 date2018052320180522
UniProtAcc

Q14669

Q99728

Ensembl transtripts involved in fusion geneENST00000283943, ENST00000389045, 
ENST00000389044, ENST00000543084, 
ENST00000409677, 
ENST00000260947, 
ENST00000449967, ENST00000432456, 
ENST00000471787, 
Fusion gene scores* DoF score13 X 11 X 13=18591 X 1 X 1=1
# samples 201
** MAII scorelog2(20/1859*10)=-3.21645486514476
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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:0006511

ubiquitin-dependent protein catabolic process

18627766|20208519

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 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
TCGALDLUADTCGA-86-7953-01ATRIP12chr2

230744698

-BARD1chr2

215595232

-
* 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
Frame-shitENST00000283943ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000283943ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000283943ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000283943ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000389045ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000389045ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000389045ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000389045ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000389044ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000389044ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000389044ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000389044ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000543084ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000543084ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000543084ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000543084ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000409677ENST00000260947TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000409677ENST00000449967TRIP12chr2

230744698

-BARD1chr2

215595232

-
Frame-shitENST00000409677ENST00000432456TRIP12chr2

230744698

-BARD1chr2

215595232

-
5CDS-intronENST00000409677ENST00000471787TRIP12chr2

230744698

-BARD1chr2

215595232

-

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FusionProtFeatures for TRIP12_BARD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TRIP12

Q14669

BARD1

Q99728

E3 ubiquitin-protein ligase involved in ubiquitin fusiondegradation (UFD) pathway and regulation of DNA repair. Part ofthe ubiquitin fusion degradation (UFD) pathway, a process thatmediates ubiquitination of protein at their N-terminus,regardeless of the presence of lysine residues in target proteins.In normal cells, mediates ubiquitination and degradation ofisoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressorrequired for p53/TP53 activation under oncogenic stress. In cancercells, however, isoform p19ARF/ARF and TRIP12 are located indifferent cell compartments, preventing isoform p19ARF/ARFubiquitination and degradation. Does not mediate ubiquitination ofisoform p16-INK4a of CDKN2A. Also catalyzes ubiquitination of NAE1and SMARCE1, leading to their degradation. Ubiquitination anddegradation of target proteins is regulated by interaction withproteins such as MYC, TRADD or SMARCC1, which disrupt theinteraction between TRIP12 and target proteins. Acts as a keyregulator of DNA damage response by acting as a suppressor ofRNF168, an E3 ubiquitin-protein ligase that promotes accumulationof 'Lys-63'-linked histone H2A and H2AX at DNA damage sites,thereby acting as a guard against excessive spreading ofubiquitinated chromatin at damaged chromosomes.{ECO:0000269|PubMed:18627766, ECO:0000269|PubMed:19028681,ECO:0000269|PubMed:20208519, ECO:0000269|PubMed:20829358,ECO:0000269|PubMed:22884692}. 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 TRIP12_BARD1


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 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
TRIP12NAE1, USP11, USP7, MEPCE, CDK9, SMARCE1, CDKN2A, MYC, CLSTN1, CARNS1, SIRT7, TRADD, NMI, UBE2D1, UBE2L3, ALYREF, ESR1, VCP, RNF168, SMAD9, CFTR, SOX6, RPA3, RPA2, RPA1, GNL3, UBC, UBE4B, PTF1A, OBSL1, CCDC8, EED, BCAT1, EIF3I, RP2, IFI16, HIST1H2BG, SRPK2, CEP19, EXOSC9, VHL, PHF8, FAM46A, TEAD2, SNW1, CAPN1, KBTBD7, MECP2, OPCML, MTNR1A, MTNR1B, ERGBARD1BCL3, BRCA1, CSTF1, H2AFX, UBE2D1, RELA, MSH2, XIST, BRCA2, BRE, BRCC3, RAD51, EWSR1, CSTF2, TP53, UBE2D2, BARD1, MSH3, MSH6, UBE3A, NFKBIA, MED17, RBBP8, AURKB, TACC1, NR1H3, UIMC1, UBE2U, XRCC6, XRCC5, NPM1, BACH1, ESR1, FAM175A, POLR2H, RAD50, SMC1A, MLH1, TOPBP1, NBN, MRE11A, UBXN1, ELAVL1, BRIP1, NR5A1, GIT1, KAT7, HAP1, TCERG1, CHD3, KAT5, ZHX1, IKBKAP, BRD7, KBTBD7, PIAS4, LRIF1, SETDB1, PTN, GPRASP2, ING5, FEZ1, MDC1, AURKA, HIST2H2AC, TOP1, UBE2D3, UBE2E1, UBE2E2, UBE2E3, UBE2N, UBE2W, FBXO44, SKP2, FBXO5, ACP1, AP1B1, ATP1B1, ATP1B3, COL1A1, DCC, FKBP1A, FKBP2, FKBP3, FUCA1, IDI1, LGALS3, LGALS8, MT2A, ND1, PCBP2, PSMA7, RPS20, SRSF2, TULP2, ZNF121, DDX39B, PIAS1, PDXK, SNX3, SELENBP1, ASH2L, CAP1, NPC2, TRAPPC8, POMZP3, SNRNP200, SMCHD1, HSPA14, UBR5, TMEM248, CASC1, ZFP64, BCCIP, AKIP1, MRPS22, TRAPPC11, WDR61, HNRNPLL, PDZD8, COMMD1, CNTN4, CRIPAK, RBMY2BP, CCNT1, CDK9, CIRBP, DYRK1A, GTF3C1, HNRNPC, KPNB1, KPNA3, MCM6, MFAP1, MOV10, NCBP1, DRG1, YBX1, PCYT1A, PNN, POLR2A, POLR2B, POLR2E, PPM1G, MAPK1, RFC2, SRSF1, SRSF4, SRSF5, SRSF6, SRSF7, TRA2B, SNRNP70, SNRPB, SNRPC, SRPK1, SRPK2, SSB, SUPT5H, TCEB3, U2AF1, YWHAZ, GNPAT, RRP1, SRSF9, RNGTT, CCNK, SCAF11, MTA2, GTF3C4, RBM39, BCLAF1, THRAP3, HNRNPDL, DCAF7, SRRM1, AKAP8, NPM3, LRRC41, UNC13B, RPP30, SRSF10, CPSF6, WDR5, HNRNPUL1, CLASRP, STRAP, DDX20, U2AF2, PUF60, HIC2, TBC1D1, U2SURP, LARP1, EXOSC2, SRRM2, MOB4, GEMIN5, SAMHD1, AKAP8L, TRA2A, GEMIN4, HP1BP3, GTSE1, LARP7, LUC7L2, CPSF3, LUC7L3, CDK12, CPSF2, ERCC6L, DCAF16, WDR33, CDKN2AIP, PRPF40A, LUC7L, RBM22, CCDC88A, TSR1, CCAR1, NKRF, MEPCE, SCAF4, MICAL3, BEND3, RBM25, NOM1, KRI1, DDX50, NOL9, ZNF768, WDR26, TRMT1L, LAS1L, NSRP1, RBM17, DHX57, SLFN11, PGAM5, HNRNPUL2, CDK13, PARN, OLA1, GOLGA2, TRAF1, SPAG5, EXOC5, LDOC1, CCDC136, CEP70, KRT40, FAM9B, CDK1, CDK2, UBE2K, FOXK2, HIST1H2BG, HIST1H3A, PARG, PARP1, CBX3, CBX5, CBX1, HSPA4, BCL2, MAGED1, RNF8, SMARCA2, SMARCB1, POLN


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 TRIP12_BARD1


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 TRIP12_BARD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBARD1C0027819Neuroblastoma2CTD_human