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Fusion gene ID: 19166 |
FusionGeneSummary for KPNA1_NCK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KPNA1_NCK1 | Fusion gene ID: 19166 | Hgene | Tgene | Gene symbol | KPNA1 | NCK1 | Gene ID | 3836 | 4690 |
| Gene name | karyopherin subunit alpha 1 | NCK adaptor protein 1 | |
| Synonyms | IPOA5|NPI-1|RCH2|SRP1 | NCK|NCKalpha|nck-1 | |
| Cytomap | 3q21.1 | 3q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | importin subunit alpha-5RAG cohort protein 2SRP1-betaimportin alpha 5importin subunit alpha-1importin-alpha-S1karyopherin alpha 1 (importin alpha 5)nucleoprotein interactor 1recombination activating gene cohort 2 | cytoplasmic protein NCK1NCK tyrosine kinaseSH2/SH3 adaptor protein NCK-alphamelanoma NCK proteinnon-catalytic region of tyrosine kinase | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P52294 | P16333 | |
| Ensembl transtripts involved in fusion gene | ENST00000344337, ENST00000466923, | ENST00000288986, ENST00000481752, ENST00000469404, | |
| Fusion gene scores | * DoF score | 7 X 4 X 7=196 | 6 X 3 X 5=90 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KPNA1 [Title/Abstract] AND NCK1 [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 |
| Tgene | NCK1 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 14676213|16835242 |
| Tgene | NCK1 | GO:0036493 | positive regulation of translation in response to endoplasmic reticulum stress | 14676213 |
| Tgene | NCK1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10026169 |
| Tgene | NCK1 | GO:0060548 | negative regulation of cell death | 18835251 |
| Tgene | NCK1 | GO:0070262 | peptidyl-serine dephosphorylation | 16835242 |
| Tgene | NCK1 | GO:1902237 | positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 14676213 |
| Tgene | NCK1 | GO:1903676 | positive regulation of cap-dependent translational initiation | 11959995 |
| Tgene | NCK1 | GO:1903679 | positive regulation of cap-independent translational initiation | 11959995 |
| Tgene | NCK1 | GO:1903898 | negative regulation of PERK-mediated unfolded protein response | 14676213 |
| Tgene | NCK1 | GO:1903912 | negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation | 14676213|16835242 |
| Tgene | NCK1 | GO:1990441 | negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 16835242 |
| 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 | MESO | TCGA-XT-AASU-01A | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
| * 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-5UTR | ENST00000344337 | ENST00000288986 | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
| 5CDS-5UTR | ENST00000344337 | ENST00000481752 | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
| 5CDS-intron | ENST00000344337 | ENST00000469404 | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
| intron-5UTR | ENST00000466923 | ENST00000288986 | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
| intron-5UTR | ENST00000466923 | ENST00000481752 | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
| intron-intron | ENST00000466923 | ENST00000469404 | KPNA1 | chr3 | 122215284 | - | NCK1 | chr3 | 136646826 | + |
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FusionProtFeatures for KPNA1_NCK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KPNA1 | NCK1 |
| 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. | Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, ortheir cellular substrates. Maintains low levels of EIF2S1phosphorylation by promoting its dephosphorylation by PP1. Plays arole in the DNA damage response, not in the detection of thedamage by ATM/ATR, but for efficient activation of downstreameffectors, such as that of CHEK2. Plays a role in ELK1-dependenttranscriptional activation in response to activated Ras signaling.Modulates the activation of EIF2AK2/PKR by dsRNA. May play a rolein cell adhesion and migration through interaction with ephrinreceptors. {ECO:0000269|PubMed:10026169,ECO:0000269|PubMed:16835242, ECO:0000269|PubMed:17803907,ECO:0000269|PubMed:18835251, ECO:0000269|PubMed:23358419,ECO:0000269|PubMed:9430661}. |
| 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 KPNA1_NCK1 |
| 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 KPNA1_NCK1 |
| 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 |
| KPNA1 | LYAR, NUP62, NUP54, RANBP2, UBR5, RAG1, CSE1L, KPNB1, RUNX1T1, STAT1, USP1, SLX4, MEPCE, TPX2, PRPF19, PRPF31, PLRG1, AICDA, CTNNBL1, CUL4B, HSPA4, CDKN1B, SKP2, CUL3, CUL1, COPS5, CAND1, NOSIP, DCAF8, TAF9, ANP32A, TP53BP1, LMO4, HDAC6, HDAC1, HDAC2, BCAR3, ANP32B, IL1RAP, ORC4, FOSL1, CRADD, GOPC, CLK3, HECW2, GABPA, DCAF6, KCTD12, LIMCH1, NPM1, TRMT61A, XRN2, NUP50, CLK4, FANCD2, FBL, IPO5, KPNA2, NOP56, NOP58, RPS19, MORF4L1, MORF4L2, RAN, SUB1, NTRK1, NUP153, PHAX, CDKN2AIP, CHD8, LMNB1, TRIM27, SMARCA4, SMARCD2, VPS72, USP7, RUVBL1, RNMT, MTA2, NCOR1, TSSC4, TADA3, RUVBL2, ADNP, SF3B1, MBD3, GATAD2A, SUPT20H, GATAD2B, MTA3, ANP32E, KIAA2013, C12orf45, ARID2, FOXB1, FOXE1, CRY2, MCM2, SNW1, IKBKG, RBBP4, PHB2, MDM2, PTPN2, STYX, SREK1IP1, PKM, NR3C1, SENP2, CD2BP2, G3BP1, LMNA, GTF2IRD1, BRD1 | NCK1 | EPHB1, MINK1, ERBB4, LCP2, ARHGAP32, BLNK, SOS1, DNM1, SOCS1, RASA1, PKN2, WASL, RRAS, EGFR, KHDRBS1, MAP4K4, DAG1, PXN, MAP4K1, NEDD9, PTK2, DCC, WAS, PDGFRB, TBK1, PAK1, CBL, RALGPS1, SOCS7, FASLG, DRD4, CD3E, ABL1, GAB2, BCAR1, ABI1, WIPF1, PFN1, DOK2, CAV2, NCKIPSD, UBA52, PIK3R1, SYK, INPP5D, UBASH3B, GRB2, TNK2, ADAM15, DOK1, FGFR1, TUBA1A, ERBB3, HSPA5, PHC2, LPHN2, KIAA1522, SHANK3, SYNPO, ADIPOR2, NCK2, FAM217B, FMR1, OLIG1, PIK3R3, SH2D1A, EIF2S2, CEP170, APBB2, TRRAP, UXT, RAD54L, PAPSS1, CLINT1, TRIM14, UBR4, DROSHA, RTEL1, HEATR3, WIPF2, GHR, ABL2, KDR, CDH1, DUSP12, CPNE5, LRFN4 |
| - 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 KPNA1_NCK1 |
| 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 KPNA1_NCK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KPNA1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | NCK1 | C0001925 | Albuminuria | 1 | CTD_human |
| Tgene | NCK1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Tgene | NCK1 | C0033687 | Proteinuria | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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