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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: 23501

FusionGeneSummary for NBEA_BRCA2

check button Fusion gene summary
Fusion gene informationFusion gene name: NBEA_BRCA2
Fusion gene ID: 23501
HgeneTgene
Gene symbol

NBEA

BRCA2

Gene ID

26960

675

Gene nameneurobeachinBRCA2, DNA repair associated
SynonymsBCL8B|LYST2BRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11
Cytomap

13q13.3

13q13.1

Type of geneprotein-codingprotein-coding
Descriptionneurobeachinlysosomal-trafficking regulator 2breast cancer type 2 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 2Fanconi anemia group D1 proteinbreast and ovarian cancer susceptibility gene, early onsetbreast and ovarian cancer susceptibility protein 2breast cancer 2 tumor suppr
Modification date2018051920180527
UniProtAcc

Q8NFP9

P51587

Ensembl transtripts involved in fusion geneENST00000540320, ENST00000400445, 
ENST00000310336, ENST00000379939, 
ENST00000537702, ENST00000379922, 
ENST00000461581, 
ENST00000380152, 
ENST00000544455, 
Fusion gene scores* DoF score7 X 7 X 6=2941 X 1 X 1=1
# samples 71
** MAII scorelog2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NBEA [Title/Abstract] AND BRCA2 [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
TgeneBRCA2

GO:0000281

mitotic cytokinesis

17286961

TgeneBRCA2

GO:0000724

double-strand break repair via homologous recombination

20729832

TgeneBRCA2

GO:0033600

negative regulation of mammary gland epithelial cell proliferation

15930293

TgeneBRCA2

GO:0043966

histone H3 acetylation

9619837

TgeneBRCA2

GO:0043967

histone H4 acetylation

9619837

TgeneBRCA2

GO:0045893

positive regulation of transcription, DNA-templated

9126734

TgeneBRCA2

GO:0070200

establishment of protein localization to telomere

21076401


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
TCGARVSARCTCGA-DX-A48J-01ANBEAchr13

35770439

+BRCA2chr13

32899213

+
* 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-shiftENST00000540320ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000540320ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000400445ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000400445ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000310336ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000310336ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000379939ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
Frame-shiftENST00000379939ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+
intron-3CDSENST00000537702ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
intron-3CDSENST00000537702ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+
intron-3CDSENST00000379922ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
intron-3CDSENST00000379922ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+
intron-3CDSENST00000461581ENST00000380152NBEAchr13

35770439

+BRCA2chr13

32899213

+
intron-3CDSENST00000461581ENST00000544455NBEAchr13

35770439

+BRCA2chr13

32899213

+

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FusionProtFeatures for NBEA_BRCA2


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

Q8NFP9

BRCA2

P51587

Binds to type II regulatory subunits of protein kinase Aand anchors/targets them to the membrane. May anchor the kinase tocytoskeletal and/or organelle-associated proteins (By similarity).{ECO:0000250}. Involved in double-strand break repair and/or homologousrecombination. Binds RAD51 and potentiates recombinational DNArepair by promoting assembly of RAD51 onto single-stranded DNA(ssDNA). Acts by targeting RAD51 to ssDNA over double-strandedDNA, enabling RAD51 to displace replication protein-A (RPA) fromssDNA and stabilizing RAD51-ssDNA filaments by blocking ATPhydrolysis. Part of a PALB2-scaffolded HR complex containingRAD51C and which is thought to play a role in DNA repair by HR.May participate in S phase checkpoint activation. Bindsselectively to ssDNA, and to ssDNA in tailed duplexes andreplication fork structures. May play a role in the extension stepafter strand invasion at replication-dependent DNA double-strandbreaks; together with PALB2 is involved in both POLH localizationat collapsed replication forks and DNA polymerization activity. Inconcert with NPM1, regulates centrosome duplication. Interactswith the TREX-2 complex (transcription and export complex 2)subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomicinstability. Silencing of BRCA2 promotes R-loop accumulation atactively transcribed genes in replicating and non-replicatingcells, suggesting that BRCA2 mediates the control of R-loopassociated genomic instability, independently of its known role inhomologous recombination (PubMed:24896180).{ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15199141,ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:18317453,ECO:0000269|PubMed:20729832, ECO:0000269|PubMed:20729858,ECO:0000269|PubMed:20729859, ECO:0000269|PubMed:21084279,ECO:0000269|PubMed:21719596, ECO:0000269|PubMed:24485656,ECO:0000269|PubMed:24896180}.

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 NBEA_BRCA2


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 NBEA_BRCA2


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
NBEASTRN4, DTNBP1, NOTCH1, VCP, FOSL2, RD3, TMEM17, PTPRH, ALOXE3, SHC4, RBM48, MRPL21, NAB2, STRADBBRCA2RAD51, HMG20B, C11orf30, BRCA1, FANCG, SHFM1, BARD1, BRE, BRCC3, FANCD2, TP53, PLK1, BCCIP, KAT2B, SMAD2, SMAD3, RPA1, BUB1B, FLNA, ATR, ATM, FANCE, STAT5A, CHEK2, AURKB, PMS2, PMS1, MCPH1, SERPINH1, UQCC1, SP1, USP11, KIF4A, H2AFX, XRCC3, BACH1, PALB2, MORF4L1, MGMT, PSMD3, PSMD6, MAGED1, NEDD4, RAD23A, CFAP52, CDK2, CCNA2, DMC1, HNRNPC, POLH, MLF1, NSL1, NSMCE4A, SDF4, DTNBP1, DSN1, CARD8, VPS28, MIER2, RABL2A, IER2, PDS5B, CDC45, PCNA, RAD21, SMC3, ERCC5, CDK9, KDM5C, HDAC6, SMARCB1, BRAF, HSPB8, C6orf141, C19orf45, NCAPH2, PPM1E, SPANXA1, RFXANK, L3MBTL1, BAG4, SNX32, MORF4L2, CNKSR1, AARSD1, RECQL5, TOP1, TOP2A, TOP3A, PARP1, PARP2, RAD51C, KEAP1, FANCI, POLN, RNF168, PPP2CA, USP21, FBXL13


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 NBEA_BRCA2


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 NBEA_BRCA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNBEAC0004352Autistic Disorder2CTD_human
HgeneNBEAC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneBRCA2C0006142Malignant neoplasm of breast16ORPHANET;UNIPROT
TgeneBRCA2C1838457FANCONI ANEMIA, COMPLEMENTATION GROUP D14CTD_human;ORPHANET;UNIPROT
TgeneBRCA2C0030297Pancreatic Neoplasm2CTD_human
TgeneBRCA2C1458155Mammary Neoplasms2CTD_human
TgeneBRCA2C0005586Bipolar Disorder1PSYGENET
TgeneBRCA2C0024121Lung Neoplasms1CTD_human
TgeneBRCA2C0036341Schizophrenia1PSYGENET
TgeneBRCA2C0206720Squamous Cell Neoplasms1CTD_human
TgeneBRCA2C0677776Hereditary Breast and Ovarian Cancer Syndrome1CTD_human;ORPHANET
TgeneBRCA2C0919267ovarian neoplasm1CTD_human