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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: 4381

FusionGeneSummary for BRCA2_ATP8A2

check button Fusion gene summary
Fusion gene informationFusion gene name: BRCA2_ATP8A2
Fusion gene ID: 4381
HgeneTgene
Gene symbol

BRCA2

ATP8A2

Gene ID

675

51761

Gene nameBRCA2, DNA repair associatedATPase phospholipid transporting 8A2
SynonymsBRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11ATP|ATPIB|CAMRQ4|IB|ML-1
Cytomap

13q13.1

13q12.13

Type of geneprotein-codingprotein-coding
Descriptionbreast 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 supprphospholipid-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 date2018052720180523
UniProtAcc

P51587

Q9NTI2

Ensembl transtripts involved in fusion geneENST00000380152, ENST00000544455, 
ENST00000381655, ENST00000255283, 
ENST00000491840, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 4 X 5=120
# samples 36
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBRCA2

GO:0000281

mitotic cytokinesis

17286961

HgeneBRCA2

GO:0000724

double-strand break repair via homologous recombination

20729832

HgeneBRCA2

GO:0033600

negative regulation of mammary gland epithelial cell proliferation

15930293

HgeneBRCA2

GO:0043966

histone H3 acetylation

9619837

HgeneBRCA2

GO:0043967

histone H4 acetylation

9619837

HgeneBRCA2

GO:0045893

positive regulation of transcription, DNA-templated

9126734

HgeneBRCA2

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
TCGALDBRCATCGA-AO-A1KQ-01ABRCA2chr13

32953652

+ATP8A2chr13

26501249

+
* 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
5CDS-intronENST00000380152ENST00000381655BRCA2chr13

32953652

+ATP8A2chr13

26501249

+
5CDS-intronENST00000380152ENST00000255283BRCA2chr13

32953652

+ATP8A2chr13

26501249

+
5CDS-3UTRENST00000380152ENST00000491840BRCA2chr13

32953652

+ATP8A2chr13

26501249

+
5CDS-intronENST00000544455ENST00000381655BRCA2chr13

32953652

+ATP8A2chr13

26501249

+
5CDS-intronENST00000544455ENST00000255283BRCA2chr13

32953652

+ATP8A2chr13

26501249

+
5CDS-3UTRENST00000544455ENST00000491840BRCA2chr13

32953652

+ATP8A2chr13

26501249

+

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FusionProtFeatures for BRCA2_ATP8A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BRCA2

P51587

ATP8A2

Q9NTI2

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.

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 BRCA2_ATP8A2


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 BRCA2_ATP8A2


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
BRCA2RAD51, 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, FBXL13ATP8A2UIMC1, ZBTB8OS


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 BRCA2_ATP8A2


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 BRCA2_ATP8A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBRCA2C0006142Malignant neoplasm of breast16ORPHANET;UNIPROT
HgeneBRCA2C1838457FANCONI ANEMIA, COMPLEMENTATION GROUP D14CTD_human;ORPHANET;UNIPROT
HgeneBRCA2C0030297Pancreatic Neoplasm2CTD_human
HgeneBRCA2C1458155Mammary Neoplasms2CTD_human
HgeneBRCA2C0005586Bipolar Disorder1PSYGENET
HgeneBRCA2C0024121Lung Neoplasms1CTD_human
HgeneBRCA2C0036341Schizophrenia1PSYGENET
HgeneBRCA2C0206720Squamous Cell Neoplasms1CTD_human
HgeneBRCA2C0677776Hereditary Breast and Ovarian Cancer Syndrome1CTD_human;ORPHANET
HgeneBRCA2C0919267ovarian neoplasm1CTD_human
TgeneATP8A2C3808977CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 41UNIPROT