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Fusion gene ID: 23501 |
FusionGeneSummary for NBEA_BRCA2 |
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Fusion gene information | Fusion gene name: NBEA_BRCA2 | Fusion gene ID: 23501 | Hgene | Tgene | Gene symbol | NBEA | BRCA2 | Gene ID | 26960 | 675 |
Gene name | neurobeachin | BRCA2, DNA repair associated | |
Synonyms | BCL8B|LYST2 | BRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11 | |
Cytomap | 13q13.3 | 13q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | neurobeachinlysosomal-trafficking regulator 2 | breast 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 date | 20180519 | 20180527 | |
UniProtAcc | Q8NFP9 | P51587 | |
Ensembl transtripts involved in fusion gene | ENST00000540320, ENST00000400445, ENST00000310336, ENST00000379939, ENST00000537702, ENST00000379922, ENST00000461581, | ENST00000380152, ENST00000544455, | |
Fusion gene scores | * DoF score | 7 X 7 X 6=294 | 1 X 1 X 1=1 |
# samples | 7 | 1 | |
** MAII score | log2(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 annotation | 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | BRCA2 | GO:0000281 | mitotic cytokinesis | 17286961 |
Tgene | BRCA2 | GO:0000724 | double-strand break repair via homologous recombination | 20729832 |
Tgene | BRCA2 | GO:0033600 | negative regulation of mammary gland epithelial cell proliferation | 15930293 |
Tgene | BRCA2 | GO:0043966 | histone H3 acetylation | 9619837 |
Tgene | BRCA2 | GO:0043967 | histone H4 acetylation | 9619837 |
Tgene | BRCA2 | GO:0045893 | positive regulation of transcription, DNA-templated | 9126734 |
Tgene | BRCA2 | GO:0070200 | establishment of protein localization to telomere | 21076401 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-DX-A48J-01A | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000540320 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000540320 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000400445 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000400445 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000310336 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000310336 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000379939 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
Frame-shift | ENST00000379939 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
intron-3CDS | ENST00000537702 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
intron-3CDS | ENST00000537702 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
intron-3CDS | ENST00000379922 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
intron-3CDS | ENST00000379922 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
intron-3CDS | ENST00000461581 | ENST00000380152 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
intron-3CDS | ENST00000461581 | ENST00000544455 | NBEA | chr13 | 35770439 | + | BRCA2 | chr13 | 32899213 | + |
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FusionProtFeatures for NBEA_BRCA2 |
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Hgene | Tgene |
NBEA | BRCA2 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NBEA_BRCA2 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NBEA | STRN4, DTNBP1, NOTCH1, VCP, FOSL2, RD3, TMEM17, PTPRH, ALOXE3, SHC4, RBM48, MRPL21, NAB2, STRADB | BRCA2 | RAD51, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NBEA_BRCA2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NBEA_BRCA2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NBEA | C0004352 | Autistic Disorder | 2 | CTD_human |
Hgene | NBEA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | BRCA2 | C0006142 | Malignant neoplasm of breast | 16 | ORPHANET;UNIPROT |
Tgene | BRCA2 | C1838457 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | 4 | CTD_human;ORPHANET;UNIPROT |
Tgene | BRCA2 | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
Tgene | BRCA2 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Tgene | BRCA2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | BRCA2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | BRCA2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | BRCA2 | C0206720 | Squamous Cell Neoplasms | 1 | CTD_human |
Tgene | BRCA2 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 1 | CTD_human;ORPHANET |
Tgene | BRCA2 | C0919267 | ovarian neoplasm | 1 | CTD_human |