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Fusion gene ID: 19162 |
FusionGeneSummary for KPNA1_CHRNA9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KPNA1_CHRNA9 | Fusion gene ID: 19162 | Hgene | Tgene | Gene symbol | KPNA1 | CHRNA9 | Gene ID | 3836 | 55584 |
| Gene name | karyopherin subunit alpha 1 | cholinergic receptor nicotinic alpha 9 subunit | |
| Synonyms | IPOA5|NPI-1|RCH2|SRP1 | HSA243342|NACHRA9 | |
| Cytomap | 3q21.1 | 4p14 | |
| 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 | neuronal acetylcholine receptor subunit alpha-9NACHR alpha 9acetylcholine receptor, neuronal nicotinic, alpha-9 subunitcholinergic receptor, nicotinic alpha 9cholinergic receptor, nicotinic, alpha 9 (neuronal)cholinergic receptor, nicotinic, alpha po | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P52294 | Q9UGM1 | |
| Ensembl transtripts involved in fusion gene | ENST00000344337, ENST00000466923, | ENST00000310169, ENST00000502377, | |
| Fusion gene scores | * DoF score | 7 X 4 X 7=196 | 3 X 1 X 3=9 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KPNA1 [Title/Abstract] AND CHRNA9 [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 | CESC | TCGA-LP-A5U2-01A | KPNA1 | chr3 | 122233604 | - | CHRNA9 | chr4 | 40350899 | + |
| * 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 | ENST00000344337 | ENST00000310169 | KPNA1 | chr3 | 122233604 | - | CHRNA9 | chr4 | 40350899 | + |
| 5UTR-intron | ENST00000344337 | ENST00000502377 | KPNA1 | chr3 | 122233604 | - | CHRNA9 | chr4 | 40350899 | + |
| intron-3CDS | ENST00000466923 | ENST00000310169 | KPNA1 | chr3 | 122233604 | - | CHRNA9 | chr4 | 40350899 | + |
| intron-intron | ENST00000466923 | ENST00000502377 | KPNA1 | chr3 | 122233604 | - | CHRNA9 | chr4 | 40350899 | + |
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FusionProtFeatures for KPNA1_CHRNA9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KPNA1 | CHRNA9 |
| 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. | Ionotropic receptor with a probable role in themodulation of auditory stimuli. Agonist binding induces aconformation change that leads to the opening of an ion-conductingchannel across the plasma membrane (PubMed:11752216,PubMed:25282151). The channel is permeable to a range of divalentcations including calcium, the influx of which may activate apotassium current which hyperpolarizes the cell membrane(PubMed:11752216, PubMed:25282151). In the ear, this may lead to areduction in basilar membrane motion, altering the activity ofauditory nerve fibers and reducing the range of dynamic hearing.This may protect against acoustic trauma. May also regulatekeratinocyte adhesion (PubMed:11021840).{ECO:0000269|PubMed:11021840, ECO:0000269|PubMed:11752216,ECO:0000269|PubMed:25282151, ECO:0000305}. |
| 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_CHRNA9 |
| 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_CHRNA9 |
| 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 | CHRNA9 | POM121, KIAA0922, FAM76B, NUFIP2, SLC30A1, SPECC1L, SLC12A9, TMX2, METTL9, NETO2, KIF5B, KIF5A, C1orf43, CCPG1, POMGNT2, CKAP4, TMEM39B, KLC2, KLC4, DHRS7, SLC30A5, LRRC59, C3orf58, PBXIP1, CISD2, CELSR1, LEMD2, KIAA1715, GOLM1, DROSHA, GHDC, BTN2A2, HS2ST1, EPHX1, HMOX1, GRAMD1A, ATF6B, HMGCR, TMUB1, PPP1R15B, TMEM57, CHEK1, SLC30A6, ATP11C, HS6ST1, FUT8, ZDHHC9, PDE3B, TMEM39A, SNX14, SLC30A7, PDZD8, DNAJC18, ERGIC2, RER1, YKT6, MAVS, FAM189B, C19orf52, DDRGK1, EIF2AK3, ST7, TMEM120B, MAP7, DNAJC30, LCLAT1, ZNF785, C9orf91, ANKRD10, POLR3GL, NUS1, PCDHGC3 |
| - 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_CHRNA9 |
| 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 |
| Tgene | CHRNA9 | Q9UGM1 | DB00184 | Nicotine | Neuronal acetylcholine receptor subunit alpha-9 | small molecule | approved |
| Tgene | CHRNA9 | Q9UGM1 | DB00674 | Galantamine | Neuronal acetylcholine receptor subunit alpha-9 | small molecule | approved |
| Tgene | CHRNA9 | Q9UGM1 | DB00898 | Ethanol | Neuronal acetylcholine receptor subunit alpha-9 | small molecule | approved |
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RelatedDiseases for KPNA1_CHRNA9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KPNA1 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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