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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BRCA2-ATP8A2 (FusionGDB2 ID:HG675TG51761) |
Fusion Gene Summary for BRCA2-ATP8A2 |
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Fusion gene information | Fusion gene name: BRCA2-ATP8A2 | Fusion gene ID: hg675tg51761 | 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 | ('BRCA2')('ATP8A2') 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 | 20200329 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000380152, ENST00000544455, | ||
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 13 X 13 X 7=1183 |
# samples | 3 | 15 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(15/1183*10)=-2.97941566784391 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] | ||
Most frequent breakpoint | BRCA2(32953652)-ATP8A2(26501249), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-AO-A1KQ-01A | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
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Fusion Gene ORF analysis for BRCA2-ATP8A2 |
![]() * 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-3UTR | ENST00000380152 | ENST00000491840 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
5CDS-3UTR | ENST00000544455 | ENST00000491840 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
5CDS-intron | ENST00000380152 | ENST00000255283 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
5CDS-intron | ENST00000380152 | ENST00000381655 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
5CDS-intron | ENST00000544455 | ENST00000255283 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
5CDS-intron | ENST00000544455 | ENST00000381655 | BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501249 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BRCA2-ATP8A2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501248 | + | 0.000534345 | 0.99946564 |
BRCA2 | chr13 | 32953652 | + | ATP8A2 | chr13 | 26501248 | + | 0.000534345 | 0.99946564 |
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Fusion Protein Features for BRCA2-ATP8A2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:32953652/:26501249) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for BRCA2-ATP8A2 |
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Fusion Gene PPI Analysis for BRCA2-ATP8A2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for BRCA2-ATP8A2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BRCA2-ATP8A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BRCA2 | C0006142 | Malignant neoplasm of breast | 30 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRCA2 | C1838457 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | BRCA2 | C2675520 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | 13 | CLINGEN;CTD_human;GENOMICS_ENGLAND |
Hgene | BRCA2 | C2675521 | BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | 10 | CLINGEN |
Hgene | BRCA2 | C2675522 | OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | 10 | CLINGEN |
Hgene | BRCA2 | C0376358 | Malignant neoplasm of prostate | 5 | CTD_human;GENOMICS_ENGLAND |
Hgene | BRCA2 | C0027708 | Nephroblastoma | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | BRCA2 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | BRCA2 | C0015625 | Fanconi Anemia | 3 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C0025149 | Medulloblastoma | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | BRCA2 | C0346153 | Breast Cancer, Familial | 3 | ORPHANET |
Hgene | BRCA2 | C0678222 | Breast Carcinoma | 3 | CGI;CTD_human |
Hgene | BRCA2 | C1257931 | Mammary Neoplasms, Human | 3 | CTD_human |
Hgene | BRCA2 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
Hgene | BRCA2 | C4704874 | Mammary Carcinoma, Human | 3 | CTD_human |
Hgene | BRCA2 | C0030297 | Pancreatic Neoplasm | 2 | CGI;CTD_human |
Hgene | BRCA2 | C0346647 | Malignant neoplasm of pancreas | 2 | CGI;CTD_human;UNIPROT |
Hgene | BRCA2 | C2751641 | GLIOMA SUSCEPTIBILITY 3 | 2 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C3150546 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | 2 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | BRCA2 | C0024121 | Lung Neoplasms | 1 | CGI;CTD_human |
Hgene | BRCA2 | C0030312 | Pancytopenia | 1 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BRCA2 | C0206720 | Squamous Cell Neoplasms | 1 | CTD_human |
Hgene | BRCA2 | C0242379 | Malignant neoplasm of lung | 1 | CGI;CTD_human;UNIPROT |
Hgene | BRCA2 | C0265219 | Miller Dieker syndrome | 1 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C0751688 | Malignant Squamous Cell Neoplasm | 1 | CTD_human |
Hgene | BRCA2 | C0919267 | ovarian neoplasm | 1 | CGI;CTD_human |
Hgene | BRCA2 | C1140680 | Malignant neoplasm of ovary | 1 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRCA2 | C1855710 | Bone marrow hypocellularity | 1 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C2931038 | Pancreatic carcinoma, familial | 1 | ORPHANET |
Hgene | BRCA2 | C2931456 | Prostate cancer, familial | 1 | ORPHANET |
Hgene | BRCA2 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C4228778 | Abnormality of radial ray | 1 | GENOMICS_ENGLAND |
Hgene | BRCA2 | C4749652 | Hereditary site-specific ovarian cancer syndrome | 1 | ORPHANET |
Tgene | C3808977 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0394006 | Dysequilibrium syndrome | 1 | ORPHANET | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |