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Fusion gene ID: 4381 |
FusionGeneSummary for BRCA2_ATP8A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BRCA2_ATP8A2 | Fusion gene ID: 4381 | Hgene | Tgene | Gene symbol | BRCA2 | ATP8A2 | Gene ID | 675 | 51761 |
| Gene name | BRCA2, DNA repair associated | ATPase phospholipid transporting 8A2 | |
| Synonyms | BRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11 | ATP|ATPIB|CAMRQ4|IB|ML-1 | |
| Cytomap | 13q13.1 | 13q12.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | phospholipid-transporting ATPase IBATPase, aminophospholipid transporter, class I, type 8A, member 2ATPase, aminophospholipid transporter-like, class I, type 8A, member 2P4-ATPase flippase complex alpha subunit ATP8A2probable phospholipid-transporting | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P51587 | Q9NTI2 | |
| Ensembl transtripts involved in fusion gene | ENST00000380152, ENST00000544455, | ENST00000381655, ENST00000255283, ENST00000491840, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 4 X 5=120 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BRCA2 [Title/Abstract] AND ATP8A2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | BRCA2 | GO:0000281 | mitotic cytokinesis | 17286961 |
| Hgene | BRCA2 | GO:0000724 | double-strand break repair via homologous recombination | 20729832 |
| Hgene | BRCA2 | GO:0033600 | negative regulation of mammary gland epithelial cell proliferation | 15930293 |
| Hgene | BRCA2 | GO:0043966 | histone H3 acetylation | 9619837 |
| Hgene | BRCA2 | GO:0043967 | histone H4 acetylation | 9619837 |
| Hgene | BRCA2 | GO:0045893 | positive regulation of transcription, DNA-templated | 9126734 |
| Hgene | BRCA2 | GO:0070200 | establishment of protein localization to telomere | 21076401 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-AO-A1KQ-01A | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000380152 | ENST00000381655 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
| 5CDS-intron | ENST00000380152 | ENST00000255283 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
| 5CDS-3UTR | ENST00000380152 | ENST00000491840 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
| 5CDS-intron | ENST00000544455 | ENST00000381655 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
| 5CDS-intron | ENST00000544455 | ENST00000255283 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
| 5CDS-3UTR | ENST00000544455 | ENST00000491840 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
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FusionProtFeatures for BRCA2_ATP8A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BRCA2 | ATP8A2 |
| 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}. | Catalytic component of a P4-ATPase flippase complexwhich catalyzes the hydrolysis of ATP coupled to the transport ofaminophospholipids from the outer to the inner leaflet of variousmembranes and ensures the maintenance of asymmetric distributionof phospholipids. Phospholipid translocation seems also to beimplicated in vesicle formation and in uptake of lipid signalingmolecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippasecomplex predomiminantly transports phosphatidylserine (PS) and toa lesser extent phosphatidylethanolamine (PE). Proposed tofunction in the generation and maintenance of phospholipidasymmetry in photoreceptor disk membranes and neuronal axonmembranes. May be involved in vesicle trafficking in neuronalcells. Involved in regulation of neurite outgrowth; acting insynergy with TMEM30A. Required for normal visual and auditoryfunction; involved in photoreceptor and inner ear spiral ganglioncell survival. |
| Retention 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 . * 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 BRCA2_ATP8A2 |
| 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 BRCA2_ATP8A2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| 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 | ATP8A2 | UIMC1, ZBTB8OS |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BRCA2_ATP8A2 |
| Drugs targeting genes involved in this fusion gene. (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 BRCA2_ATP8A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BRCA2 | C0006142 | Malignant neoplasm of breast | 16 | ORPHANET;UNIPROT |
| Hgene | BRCA2 | C1838457 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | BRCA2 | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Hgene | BRCA2 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | BRCA2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | BRCA2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | BRCA2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | BRCA2 | C0206720 | Squamous Cell Neoplasms | 1 | CTD_human |
| Hgene | BRCA2 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 1 | CTD_human;ORPHANET |
| Hgene | BRCA2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | ATP8A2 | C3808977 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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