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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: 3837

FusionGeneSummary for BARD1_C6orf222

check button Fusion gene summary
Fusion gene informationFusion gene name: BARD1_C6orf222
Fusion gene ID: 3837
HgeneTgene
Gene symbol

BARD1

C6orf222

Gene ID

580

389384

Gene nameBRCA1 associated RING domain 1chromosome 6 open reading frame 222
Synonyms--
Cytomap

2q35

6p21.31

Type of geneprotein-codingprotein-coding
DescriptionBRCA1-associated RING domain protein 1BRCA1-associated RING domain gene 1RING-type E3 ubiquitin transferase BARD1uncharacterized protein C6orf222
Modification date2018052220180329
UniProtAcc

Q99728

P0C671

Ensembl transtripts involved in fusion geneENST00000260947, ENST00000449967, 
ENST00000432456, ENST00000471787, 
ENST00000437635, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: BARD1 [Title/Abstract] AND C6orf222 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
DDR (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
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
TCGARVESCATCGA-L5-A8NT-01ABARD1chr2

215645284

-C6orf222chr6

36291967

-
* 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-shitENST00000260947ENST00000437635BARD1chr2

215645284

-C6orf222chr6

36291967

-
In-frameENST00000449967ENST00000437635BARD1chr2

215645284

-C6orf222chr6

36291967

-
intron-3CDSENST00000432456ENST00000437635BARD1chr2

215645284

-C6orf222chr6

36291967

-
intron-3CDSENST00000471787ENST00000437635BARD1chr2

215645284

-C6orf222chr6

36291967

-

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FusionProtFeatures for BARD1_C6orf222


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

Q99728

C6orf222

P0C671

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_C6orf222


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.
>In-frame_BARD1_ENST00000449967_chr2_215645284_-_C6orf222_ENST00000437635_chr6_36291967_-_557aa
MWFSPRSKKVRTVVSKASVQTQPAIKKDASAQQDSTEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKEDGEFDSKEE
SKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTPEKVCKNTLTSKKSLPLENNGKRGH
HNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRRVMSSPSAM
KLLPNMAVKRNHRGETLLHIASIKKNSFRRSFPCSKMQKNSKERSNLKSSRKRWV_KTRPHTAEGNLKKKGRASGERFTIRNTPPRNPEE
RGQQGLPAQRPDDPRGPAFCPCVLVAIGPPPPAALIQKISSAGSPCPQKGSQL_SQKHPPRLEATRQKGHLS_VEHVNLRRSSSRSLWHF
SKKWMANWGSRSGATPALRGFFTSSRTPPSASW_PPCAARWLTPLSWTGTAPGDSTSLTLA_LTNLLAATAMPCASSWA_ETTTIAPSSH


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_BARD1_ENST00000449967_chr2_215645284_-_C6orf222_ENST00000437635_chr6_36291967_-_1673nt
ATGTGGTTTAGCCCTCGAAGTAAGAAAGTCAGATATGTTGTGAGTAAAGCTTCAGTGCAAACCCAGCCTGCAATAAAAAAAGATGCAAGT
GCTCAGCAAGACTCATATGAATTTGTTTCCCCAAGTCCTCCTGCAGATGTTTCTGAGAGGGCTAAAAAGGCTTCTGCAAGATCTGGAAAA
AAGCAAAAAAAGAAAACTTTAGCTGAAATCAACCAAAAATGGAATTTAGAGGCAGAAAAAGAAGATGGTGAATTTGACTCCAAAGAGGAA
TCTAAGCAAAAGCTGGTATCCTTCTGTAGCCAACCATCTGTTATCTCCAGTCCTCAGATAAATGGTGAAATAGACTTACTAGCAAGTGGC
TCCTTGACAGAATCTGAATGTTTTGGAAGTTTAACTGAAGTCTCTTTACCATTGGCTGAGCAAATAGAGTCTCCAGACACTAAGAGCAGG
AATGAAGTAGTGACTCCTGAGAAGGTCTGCAAAAATTATCTTACATCTAAGAAATCTTTGCCATTAGAAAATAATGGAAAACGTGGCCAT
CACAATAGACTTTCCAGTCCCATTTCTAAGAGATGTAGAACCAGCATTCTGAGCACCAGTGGAGATTTTGTTAAGCAAACGGTGCCCTCA
GAAAATATACCATTGCCTGAATGTTCTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCAGGGAGGAAAAACAGTAACATGTCC
GATGAATTCATTAGTCTTTCACCAGGTACACCACCTTCTACATTAAGTAGTTCAAGTTACAGGCGAGTGATGTCTAGTCCCTCAGCAATG
AAGCTGTTGCCCAATATGGCTGTGAAAAGAAATCATAGAGGAGAGACTTTGCTCCATATTGCTTCTATTAAGAAGAATTCATTCAGAAGA
TCATTTCCATGCTCCAAGATGCAGAAGAACAGCAAGGAGAGGAGCAACCTCAAGTCCAGCAGGAAGAGGTGGGTGTAGAAAACCCGGCCC
CACACTGCAGAAGGAAATCTCAAGAAAAAAGGTCGAGCTTCAGGAGAGCGTTTTACCATAAGAAACACACCTCCAAGGAACCCAGAAGAG
CGGGGGCAGCAGGGGCTGCCAGCCCAGAGGCCCGACGACCCAAGAGGCCCAGCTTTCTGCCCCTGTGTGTTGGTGGCCATCGGCCCTCCA
CCTCCAGCAGCCTTGATCCAGAAGATCTCGAGTGCCGGGAGCCCCTGCCCGCAGAAGGGGAGCCAGTTGTGATCTCAGAAGCACCCTCCC
AGGCTAGAGGCCACACGCCAGAAGGGGCACCTCAGCTGAGTGGAGCATGTGAATCTAAGGAGATCATCATCCAGAAGCTTGTGGCACTTC
TCCAAGAAGTGGATGGCCAACTGGGGCAGCAGATCAGGCGCCACCCCAGCTTTAAGAGGTTTTTTTACGAGTTCTCGGACTCCTCCCTCA
GCAAGCTGGTAGCCACCCTGCGCAGCCAGGTGGCTCACTCCTCTAAGCTGGACAGGAACCGCGCCAGGAGACTCTACCAGTTTGACGTTA
GCTTAGCTAACAAATTTGCTGGCAGCAACAGCCATGCCATGTGCATCCTCATGGGCCTAAGAGACCACTACAATTGCACCCAGTTCCCAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_BARD1_ENST00000449967_chr2_215645284_-_C6orf222_ENST00000437635_chr6_36291967_-_3659nt
AGAGCTTGGCCGGTTTCGAGTCGCTGGCCTGCAGCTTCCCTGTGGTTTCCCGAGGCTTCCTTGCTTCCCGCTCTGCGAGGAGCCTTTCAT
CCGAAGGCGGGACGATGCCGGATAATCGGCAGCCGAGGAACCGGCAGCCGAGGATCCGCTCCGGGAACGAGCCTCGTTCCGCGCCCGCCA
TGGAACCGGATGGTCGCGGTGCCTGGGCCCACAGTCGCGCCGCGCTCGACCGCCTGGAGAAGCTGCTGCGCTGCTCGCGTTGTACTAACA
TTCTGAGAGAGCCTGTGTGTTTAGGAGGATGTGAGCACATCTTCTGTAGATTTGAAAGAAGATAAACCTAGGAAAAGTTTGTTTAATGAT
GCAGGAAACAAGAAGAATTCAATTAAAATGTGGTTTAGCCCTCGAAGTAAGAAAGTCAGATATGTTGTGAGTAAAGCTTCAGTGCAAACC
CAGCCTGCAATAAAAAAAGATGCAAGTGCTCAGCAAGACTCATATGAATTTGTTTCCCCAAGTCCTCCTGCAGATGTTTCTGAGAGGGCT
AAAAAGGCTTCTGCAAGATCTGGAAAAAAGCAAAAAAAGAAAACTTTAGCTGAAATCAACCAAAAATGGAATTTAGAGGCAGAAAAAGAA
GATGGTGAATTTGACTCCAAAGAGGAATCTAAGCAAAAGCTGGTATCCTTCTGTAGCCAACCATCTGTTATCTCCAGTCCTCAGATAAAT
GGTGAAATAGACTTACTAGCAAGTGGCTCCTTGACAGAATCTGAATGTTTTGGAAGTTTAACTGAAGTCTCTTTACCATTGGCTGAGCAA
ATAGAGTCTCCAGACACTAAGAGCAGGAATGAAGTAGTGACTCCTGAGAAGGTCTGCAAAAATTATCTTACATCTAAGAAATCTTTGCCA
TTAGAAAATAATGGAAAACGTGGCCATCACAATAGACTTTCCAGTCCCATTTCTAAGAGATGTAGAACCAGCATTCTGAGCACCAGTGGA
GATTTTGTTAAGCAAACGGTGCCCTCAGAAAATATACCATTGCCTGAATGTTCTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACA
TCAGGGAGGAAAAACAGTAACATGTCCGATGAATTCATTAGTCTTTCACCAGGTACACCACCTTCTACATTAAGTAGTTCAAGTTACAGG
CGAGTGATGTCTAGTCCCTCAGCAATGAAGCTGTTGCCCAATATGGCTGTGAAAAGAAATCATAGAGGAGAGACTTTGCTCCATATTGCT
TCTATTAAGAAGAATTCATTCAGAAGATCATTTCCATGCTCCAAGATGCAGAAGAACAGCAAGGAGAGGAGCAACCTCAAGTCCAGCAGG
AAGAGGTGGGTGTAGAAAACCCGGCCCCACACTGCAGAAGGAAATCTCAAGAAAAAAGGTCGAGCTTCAGGAGAGCGTTTTACCATAAGA
AACACACCTCCAAGGAACCCAGAAGAGCGGGGGCAGCAGGGGCTGCCAGCCCAGAGGCCCGACGACCCAAGAGGCCCAGCTTTCTGCCCC
TGTGTGTTGGTGGCCATCGGCCCTCCACCTCCAGCAGCCTTGATCCAGAAGATCTCGAGTGCCGGGAGCCCCTGCCCGCAGAAGGGGAGC
CAGTTGTGATCTCAGAAGCACCCTCCCAGGCTAGAGGCCACACGCCAGAAGGGGCACCTCAGCTGAGTGGAGCATGTGAATCTAAGGAGA
TCATCATCCAGAAGCTTGTGGCACTTCTCCAAGAAGTGGATGGCCAACTGGGGCAGCAGATCAGGCGCCACCCCAGCTTTAAGAGGTTTT
TTTACGAGTTCTCGGACTCCTCCCTCAGCAAGCTGGTAGCCACCCTGCGCAGCCAGGTGGCTCACTCCTCTAAGCTGGACAGGAACCGCG
CCAGGAGACTCTACCAGTTTGACGTTAGCTTAGCTAACAAATTTGCTGGCAGCAACAGCCATGCCATGTGCATCCTCATGGGCCTAAGAG
ACCACTACAATTGCACCCAGTTCCCATACAGGGAGGACCAGCCGAACATCACAAGTCCTAAGGTTGAAAGTCCAGATTGAAAGCTGTGTC
TTGCACTCAAATTCCCTTGAACTAGCCAAATGGTTCGCAGCTTTAGCCAGGAGACCCTGAAGATGCTCTGTGATGTCCCAATCCCTGCTT
CACAAACGTGATGGAAGACAAGAGCAGACAATCATTCTGTGTCCATACCCTAGTATCTGAGAAGCACAGAGCATTCTTCCACAAGGCAAG
ACACAGAGGCCATGTCTGGGGAAATCAGCACTGGACTGGGAATGAGGAAGACTGGGGCTCTACCTGCTGAACCTACCCCAGACTTGCTGC
ATGACCCTCTACACATTCCCCCTCCTCTCCAGACTTTGGAGTCTAGGATCCCACCCAGAAGGCCTACTGATATTTTCTCAGATGTTCATG
TTAACTGAGTCTAGTTTTTAAACTAAATTTTTATTTAATCTCTAAACAGAACATCCACATGCATCCAAACAGATATGCATCGAAGTGTAT
CCCATCATTTCTTCAGTTGACCAGTAGTTCTTCATGCTCATATGGATTTGTAGATGCCTCCCAGGAACTCTGCAGGCCCAAGATGGAAAA
ACCTAGAGACTGGGGACACTTGGTCTCTCAGAATCCTTCTAACCCTGTGTCCTGTCATTCTATGACTAGAGAAATGGAGCTGATACCTTG
CACCTCTCCCATCTCATGGGATTGGCTAGGAGTCAGTGAGAAAATGGATGTGAAGAGTTCTGAAAATTACCTAGTGCCATGTCCATGTAG
GCACTATAGCTTCTTTTGGGTAGTTTTCAGGAAGTGGAGGAGGGCTTCAATGGGCTGGACTGCCATGGATTGTTGCACAGGGGTGCACTG
CTCAAGAGCACCATACTCCAGGAGGTACTATTCATGTCCTAGACATTGTGGATTTGTAGATTTATCATGACAGTTTTGCAGCTGGTAGCA
GTAACATGTCTTGAGAAAAGGGCTATTTTTTGTATTTGCACAAAGGTGAAGTGTGGGGGTGCCAGAGGCTCTGCCTTCTGTATAGCTCAA
CAGTTTCAATAGCTTGACTCAGGTGTGAAATTTGCCACATGTTCATATCTATGTGCAGGAAGGACAAGACTGTAGACAGACAGTCGGCTC
CCTTGGACACTGCCCAGAACATGTGGTCATGGGGGAAAGGGTGTTAAACCTGGATGGCAAGTGAGATCTTGTGACCCTTGGGGACATGGT
ATTGCCGTGTTGAACCTGCTGTCGCACCATGGGGTAGGACTGGGGAGGAGGAGCAGTCTAGAGCGGAGAGGCCCTGGGTGCTTATATGGG
ACTGGCCTCCAACCTGAGGCACTGGCTTCATAAGCTCAACTCAGCCTATCCGGAAAGCCATTTAGTTTTTATTGCTGCTTCTGAGAAGTG
GGGGAGAGGTGAGCTATTTGTGGATTTGTTTTAGGCAGTGTTCACAATCATAGCACCTAAATATGAAGGATCAGAATAAGTTATGAAATG
AAGGTCAGGAACCTTTTGTACATAGTTTCTTATTTGGAATGATGTTCTTTAAGCCCTATGAGTATTTGGTATGTGCTCCTGATGCTGGCA


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FusionGenePPI for BARD1_C6orf222


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
BARD1BCL3, 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, POLNC6orf222


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_C6orf222


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_C6orf222


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