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Fusion gene ID: 3255 |
FusionGeneSummary for ATP11A_CARKD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP11A_CARKD | Fusion gene ID: 3255 | Hgene | Tgene | Gene symbol | ATP11A | CARKD | Gene ID | 23250 | 55739 |
| Gene name | ATPase phospholipid transporting 11A | NAD(P)HX dehydratase | |
| Synonyms | ATPIH|ATPIS | CARKD|LP3298 | |
| Cytomap | 13q34 | 13q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable phospholipid-transporting ATPase IHATPase, class VI, type 11AP4-ATPase flippase complex alpha subunit ATP11Aphospholipid-translocating ATPasepotential phospholipid-transporting ATPase IH | ATP-dependent (S)-NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)HX dehydratasecarbohydrate kinase domain containingcarbohydrate kinase domain-containing protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P98196 | ||
| Ensembl transtripts involved in fusion gene | ENST00000283558, ENST00000375630, ENST00000487903, ENST00000375645, ENST00000419448, | ENST00000458711, ENST00000424185, ENST00000397191, ENST00000470164, ENST00000309957, | |
| Fusion gene scores | * DoF score | 12 X 9 X 11=1188 | 3 X 2 X 3=18 |
| # samples | 20 | 3 | |
| ** MAII score | log2(20/1188*10)=-2.57046293102604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ATP11A [Title/Abstract] AND CARKD [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 |
| 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 | HNSC | TCGA-QK-A8ZA-01A | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| * 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 | ENST00000283558 | ENST00000458711 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000283558 | ENST00000424185 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000283558 | ENST00000397191 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000283558 | ENST00000470164 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000283558 | ENST00000309957 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000375630 | ENST00000458711 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000375630 | ENST00000424185 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000375630 | ENST00000397191 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000375630 | ENST00000470164 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000375630 | ENST00000309957 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000487903 | ENST00000458711 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000487903 | ENST00000424185 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000487903 | ENST00000397191 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000487903 | ENST00000470164 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000487903 | ENST00000309957 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000375645 | ENST00000458711 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000375645 | ENST00000424185 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-intron | ENST00000375645 | ENST00000397191 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000375645 | ENST00000470164 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| 5CDS-3UTR | ENST00000375645 | ENST00000309957 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| intron-intron | ENST00000419448 | ENST00000458711 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| intron-intron | ENST00000419448 | ENST00000424185 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| intron-intron | ENST00000419448 | ENST00000397191 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| intron-3UTR | ENST00000419448 | ENST00000470164 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
| intron-3UTR | ENST00000419448 | ENST00000309957 | ATP11A | chr13 | 113344769 | + | CARKD | chr13 | 111274563 | + |
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FusionProtFeatures for ATP11A_CARKD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP11A | CARKD |
| 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 (Probable). May be involved in the uptake offarnesyltransferase inhibitor drugs, such as lonafarnib.{ECO:0000269|PubMed:15860663, ECO:0000305}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 ATP11A_CARKD |
| 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 ATP11A_CARKD |
| 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 |
| ATP11A | TMEM30A, NPDC1, PICK1, TRIM25 | CARKD | KRTAP5-9, KRT31, SGTA, UBQLN1, KRTAP10-7, KRTAP10-9, KRTAP10-8, KRTAP10-3, NOTCH2NL, ENO1, MOV10, NXF1, FGL1, AGL, C9orf64, MTAP, TAGLN2, UBE2C, GRHPR, NANS, PRDX2, CDK2, KDR, PPT2, PHEX, SLC25A30, MKLN1, CYB5D2, HLA-A, LINGO2, BCL6, NEBL, KDELR3 |
| - 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 ATP11A_CARKD |
| 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 ATP11A_CARKD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATP11A | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
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