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Fusion gene ID: 26561 |
FusionGeneSummary for PDS5B_ATP8A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDS5B_ATP8A2 | Fusion gene ID: 26561 | Hgene | Tgene | Gene symbol | PDS5B | ATP8A2 | Gene ID | 23047 | 51761 |
| Gene name | PDS5 cohesin associated factor B | ATPase phospholipid transporting 8A2 | |
| Synonyms | APRIN|AS3|CG008 | ATP|ATPIB|CAMRQ4|IB|ML-1 | |
| Cytomap | 13q13.1 | 13q12.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sister chromatid cohesion protein PDS5 homolog Bandrogen induced inhibitor of proliferationandrogen-induced proliferation inhibitorandrogen-induced prostate proliferative shutoff-associated protein AS3androgen-induced shutoff 3 | 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 | 20180523 | 20180523 | |
| UniProtAcc | Q9NTI5 | Q9NTI2 | |
| Ensembl transtripts involved in fusion gene | ENST00000315596, | ENST00000381655, ENST00000255283, ENST00000491840, | |
| Fusion gene scores | * DoF score | 9 X 3 X 6=162 | 6 X 4 X 5=120 |
| # samples | 11 | 6 | |
| ** MAII score | log2(11/162*10)=-0.558490289359965 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: PDS5B [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 | PDS5B | GO:0008285 | negative regulation of cell proliferation | 10963680 |
| Hgene | PDS5B | GO:0042127 | regulation of cell proliferation | 10963680 |
| 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 | RV | SKCM | TCGA-ER-A42L-06A | PDS5B | chr13 | 33160730 | + | ATP8A2 | chr13 | 26402256 | + |
| * 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 |
| 5UTR-3CDS | ENST00000315596 | ENST00000381655 | PDS5B | chr13 | 33160730 | + | ATP8A2 | chr13 | 26402256 | + |
| 5UTR-intron | ENST00000315596 | ENST00000255283 | PDS5B | chr13 | 33160730 | + | ATP8A2 | chr13 | 26402256 | + |
| 5UTR-3UTR | ENST00000315596 | ENST00000491840 | PDS5B | chr13 | 33160730 | + | ATP8A2 | chr13 | 26402256 | + |
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FusionProtFeatures for PDS5B_ATP8A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDS5B | ATP8A2 |
| Regulator of sister chromatid cohesion in mitosis whichmay stabilize cohesin complex association with chromatin. Maycouple sister chromatid cohesion during mitosis to DNAreplication. Cohesion ensures that chromosome partitioning isaccurate in both meiotic and mitotic cells and plays an importantrole in DNA repair. Plays a role in androgen-induced proliferativearrest in prostate cells. {ECO:0000269|PubMed:10963680,ECO:0000269|PubMed:15855230, ECO:0000269|PubMed:19696148}. | 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 PDS5B_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 PDS5B_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 |
| PDS5B | CDCA5, STAG1, STAG2, SMC3, SMC1A, WFDC5, PDS5A, RAD21, WAPAL, SIRT7, NSMCE2, APP, LAMP2, OBSL1, EED, RNF2, BSG, CD274, SEPT12, LYPD3, SLC30A4, TGOLN2, SCN2B, BRCA2, RAD51, PALB2, CDC45, PCNA, NTRK1, CEP164, GYPB, VIPR2, CHRM4, APLNR, ANK1, SLC15A1, CD70, KIAA1467, SCN3B, HTR2C, MAS1, P2RX5, LPAR4, TRIM25, G3BP1 | 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 PDS5B_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 PDS5B_ATP8A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ATP8A2 | C3808977 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 | 1 | UNIPROT |
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