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Fusion gene ID: 19177 |
FusionGeneSummary for KPNA4_ATR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KPNA4_ATR | Fusion gene ID: 19177 | Hgene | Tgene | Gene symbol | KPNA4 | ATR | Gene ID | 3840 | 84168 |
| Gene name | karyopherin subunit alpha 4 | ANTXR cell adhesion molecule 1 | |
| Synonyms | IPOA3|QIP1|SRP3 | ATR|GAPO|TEM8 | |
| Cytomap | 3q25.33 | 2p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | importin subunit alpha-3importin alpha Q1importin subunit alpha-4karyopherin alpha 4 (importin alpha 3) | anthrax toxin receptor 12310008J16Rik2810405N18Riktumor endothelial marker 8 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O00629 | Q13535 | |
| Ensembl transtripts involved in fusion gene | ENST00000334256, ENST00000469804, | ENST00000350721, ENST00000383101, | |
| Fusion gene scores | * DoF score | 8 X 6 X 6=288 | 5 X 4 X 4=80 |
| # samples | 10 | 5 | |
| ** MAII score | log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KPNA4 [Title/Abstract] AND ATR [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 |
| Tgene | ATR | GO:0031532 | actin cytoskeleton reorganization | 16762926 |
| Tgene | ATR | GO:0034446 | substrate adhesion-dependent cell spreading | 16762926 |
| 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 | LUSC | TCGA-66-2727-01A | KPNA4 | chr3 | 160283002 | - | ATR | chr3 | 142286996 | - |
| * 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 |
| Frame-shift | ENST00000334256 | ENST00000350721 | KPNA4 | chr3 | 160283002 | - | ATR | chr3 | 142286996 | - |
| Frame-shift | ENST00000334256 | ENST00000383101 | KPNA4 | chr3 | 160283002 | - | ATR | chr3 | 142286996 | - |
| 5UTR-3CDS | ENST00000469804 | ENST00000350721 | KPNA4 | chr3 | 160283002 | - | ATR | chr3 | 142286996 | - |
| 5UTR-3CDS | ENST00000469804 | ENST00000383101 | KPNA4 | chr3 | 160283002 | - | ATR | chr3 | 142286996 | - |
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FusionProtFeatures for KPNA4_ATR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KPNA4 | ATR |
| Functions in nuclear protein import as an adapterprotein for nuclear receptor KPNB1. Binds specifically anddirectly to substrates containing either a simple or bipartite NLSmotif. Docking of the importin/substrate complex to the nuclearpore complex (NPC) is mediated by KPNB1 through binding tonucleoporin FxFG repeats and the complex is subsequentlytranslocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to importin-beta and the three components separate andimportin-alpha and -beta are re-exported from the nucleus to thecytoplasm where GTP hydrolysis releases Ran from importin. Thedirectionality of nuclear import is thought to be conferred by anasymmetric distribution of the GTP- and GDP-bound forms of Ranbetween the cytoplasm and nucleus. In vitro, mediates the nuclearimport of human cytomegalovirus UL84 by recognizing a non-classical NLS. In vitro, mediates the nuclear import of humancytomegalovirus UL84 by recognizing a non-classical NLS. | Serine/threonine protein kinase which activatescheckpoint signaling upon genotoxic stresses such as ionizingradiation (IR), ultraviolet light (UV), or DNA replicationstalling, thereby acting as a DNA damage sensor. Recognizes thesubstrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1,MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibitDNA replication and mitosis and promote DNA repair, recombinationand apoptosis. Phosphorylates 'Ser-139' of histone variantH2AX/H2AFX at sites of DNA damage, thereby regulating DNA damageresponse mechanism. Required for FANCD2 ubiquitination. Criticalfor maintenance of fragile site stability and efficient regulationof centrosome duplication. {ECO:0000269|PubMed:10597277,ECO:0000269|PubMed:10608806, ECO:0000269|PubMed:10859164,ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11418864,ECO:0000269|PubMed:11673449, ECO:0000269|PubMed:11721054,ECO:0000269|PubMed:11865061, ECO:0000269|PubMed:12526805,ECO:0000269|PubMed:12791985, ECO:0000269|PubMed:12814551,ECO:0000269|PubMed:14657349, ECO:0000269|PubMed:14729973,ECO:0000269|PubMed:14742437, ECO:0000269|PubMed:15210935,ECO:0000269|PubMed:15314022, ECO:0000269|PubMed:15496423,ECO:0000269|PubMed:16260606, ECO:0000269|PubMed:21144835,ECO:0000269|PubMed:27723717, ECO:0000269|PubMed:27723720,ECO:0000269|PubMed:9427750, ECO:0000269|PubMed:9636169,ECO:0000269|PubMed:9925639}. |
| 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 KPNA4_ATR |
| 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 KPNA4_ATR |
| 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 |
| KPNA4 | RECQL, ARRB2, TGM2, CSE1L, KPNB1, RAC1, RCC1, H3F3A, TP53, MYC, CTCF, CUL4B, CDKN1B, EXO1, ELAVL1, PARD3, CUL3, DAXX, APP, AICDA, CBX5, CSNK2A1, NACC1, SOX2, HDAC1, ACLY, KPNA2, LIN28A, HSF1, HNRNPC, PLAA, NUP50, MAT2B, CYHR1, MTA1, PHF20L1, IER2, UNK, ACTR1A, ACTR1B, CANX, CLGN, COPB1, HSP90B1, IPO9, AHSA1, CCT2, CCT3, CCT6A, CCT6B, CCT7, CCT8, DNAJA1, KPNA3, LMNB1, MCM4, PC, PRPF8, UQCRC2, SEC63, KIF22, NCBP1, NUP153, NCBP2, C10orf12, NUP107, MYH7B, CTDSPL2, MECP2, B2M, MRGBP, RAN, SOST, CFAP20, FOXA1, WT1, LMNA, GTF2IRD1 | ATR | BRCA1, TP53, ABL1, AP1B1, ARHGEF1, ATM, ATR, BRCA2, CHEK1, E4F1, LIG4, MRE11A, NBN, PA2G4, PIK3CA, POLD1, RAD17, RPA1, WRN, MCM7, MCM2, MSH2, CLSPN, CHD4, HDAC2, HDAC1, MTA1, MTA2, ATRIP, RHEB, H2AFX, XPC, PMS1, CDC6, TTI1, TELO2, MSH6, FANCA, TOPBP1, C19orf40, RPA2, CHEK2, MCPH1, UPF1, SMC1A, CEP164, RAD1, HUS1, RAD9A, POLN, BLM, EP300, SNIP1, FANCD2, E2F1, NCOA2, CDK9, HSP90AA1, HSPA4, XRCC5, ARRB1, CDC5L, VPRBP, DCLRE1C, DTL, SOCS1, XPA, CCNB2, CDKN2A, CDKN2C, CREB1, IKBKG, CINP, EGFR, RPA3, CLTC, YBX3, FAM133B, PABPN1, BSG, CD274, CEACAM21, VSIG2, CA14, NT5E, LYPD3, SCN2B, SCARA3, ALDH3A2, HTR6, NOSIP, PPP2R3A, RASSF1, AP3B1, TERT, ETV1, SNW1, POU5F1, USP20, AIRE, MTMR4, PDGFRB, GYPA, TNFRSF1A, TNFSF8, SCN3B, PVR, NCR3LG1, GYPB, VSIG1, VASN, OPRM1, HELQ, FANCI, UHRF2 |
| - 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 KPNA4_ATR |
| 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 KPNA4_ATR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ATR | C0032273 | Pneumoconiosis | 1 | CTD_human |
| Tgene | ATR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | ATR | C0042076 | Urologic Neoplasms | 1 | CTD_human |
| Tgene | ATR | C3281203 | CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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