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Fusion gene ID: 24483 |
FusionGeneSummary for NMD3_PRKRA |
Fusion gene summary |
Fusion gene information | Fusion gene name: NMD3_PRKRA | Fusion gene ID: 24483 | Hgene | Tgene | Gene symbol | NMD3 | PRKRA | Gene ID | 51068 | 8575 |
Gene name | NMD3 ribosome export adaptor | protein activator of interferon induced protein kinase EIF2AK2 | |
Synonyms | CGI-07 | DYT16|HSD14|PACT|RAX | |
Cytomap | 3q26.1 | 2q31.2 | |
Type of gene | protein-coding | protein-coding | |
Description | 60S ribosomal export protein NMD3NMD3 homologhNMD3 | interferon-inducible double-stranded RNA-dependent protein kinase activator APKR-associated protein XPKR-associating protein Xprotein activator of the interferon-induced protein kinaseprotein kinase, interferon-inducible double-stranded RNA-dependent | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q96D46 | O75569 | |
Ensembl transtripts involved in fusion gene | ENST00000351193, ENST00000472947, ENST00000460469, ENST00000478160, | ENST00000325748, ENST00000438687, ENST00000487082, ENST00000432031, ENST00000470200, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 1 X 1 X 1=1 |
# samples | 5 | 1 | |
** MAII score | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: NMD3 [Title/Abstract] AND PRKRA [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 | PRKRA | GO:0030422 | production of siRNA involved in RNA interference | 17452327 |
Tgene | PRKRA | GO:0031054 | pre-miRNA processing | 16424907|23661684 |
Tgene | PRKRA | GO:0035196 | production of miRNAs involved in gene silencing by miRNA | 23661684 |
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-66-2800-01A | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
* 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 | ENST00000351193 | ENST00000325748 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000351193 | ENST00000438687 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000351193 | ENST00000487082 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000351193 | ENST00000432031 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
5CDS-intron | ENST00000351193 | ENST00000470200 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000472947 | ENST00000325748 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000472947 | ENST00000438687 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000472947 | ENST00000487082 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000472947 | ENST00000432031 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
5CDS-intron | ENST00000472947 | ENST00000470200 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000460469 | ENST00000325748 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000460469 | ENST00000438687 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000460469 | ENST00000487082 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
Frame-shift | ENST00000460469 | ENST00000432031 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
5CDS-intron | ENST00000460469 | ENST00000470200 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
intron-3CDS | ENST00000478160 | ENST00000325748 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
intron-3CDS | ENST00000478160 | ENST00000438687 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
intron-3CDS | ENST00000478160 | ENST00000487082 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
intron-3CDS | ENST00000478160 | ENST00000432031 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
intron-intron | ENST00000478160 | ENST00000470200 | NMD3 | chr3 | 160942852 | + | PRKRA | chr2 | 179308111 | - |
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FusionProtFeatures for NMD3_PRKRA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
NMD3 | PRKRA |
Acts as an adapter for the XPO1/CRM1-mediated export ofthe 60S ribosomal subunit. {ECO:0000269|PubMed:12724356,ECO:0000269|PubMed:12773398}. | Activates EIF2AK2/PKR in the absence of double-strandedRNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha andinhibition of translation and induction of apoptosis. Required forsiRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required forprocessing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53association and sumoylation and phosphorylation of p53/TP53 at'Lys-386' at 'Ser-392' respectively and enhances its activity in aEIF2AK2/PKR-dependent manner (By similarity). {ECO:0000250,ECO:0000269|PubMed:10336432, ECO:0000269|PubMed:11238927,ECO:0000269|PubMed:16424907, ECO:0000269|PubMed:16982605,ECO:0000269|PubMed:17452327, ECO:0000269|PubMed:9687506}. |
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 NMD3_PRKRA |
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 NMD3_PRKRA |
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 |
NMD3 | XPO1, OTUD4, MRTO4, UBA1, STAT1, VCP, CSNK2A1, EIF6, ZNF622, DTX3, ST8SIA1, PLTP, ARHGAP1, CNBP, DIS3, FLNA, GDI1, GFPT1, IMPDH2, LSM7, AARS, AHSA1, ASNS, CBS, CIAPIN1, CSTF1, CTPS1, DKC1, DPH5, EPRS, FLNB, GARS, GNL3L, GTPBP4, HMGCS1, HSPBP1, LARS, MAPK3, MAT2A, MSH2, PDIA3, PFKP, POLR1C, PRPS1, RRS1, TLN1, TTC27, WBSCR22, NOP58, PUS1, PUS7, RAD23B, RFC5, SDAD1, TRMT6, CEP164, LNX2, GSTT2B, HMMR, POTEF, GPD1, SFTA2, FAM83D, GCLC, CPEB1, KLHDC2 | PRKRA | SYNCRIP, IGF2BP1, PRPSAP1, RPL36, COPS6, GDF9, PRKRA, SETDB1, EIF2AK2, RABEPK, ZFP28, SHC1, ZNF746, CEBPZ, TARBP2, NKRF, KIAA1377, SNX5, SIRT7, CAND1, UBE2I, MDC1, POLR2G, SRPK3, DICER1, GTPBP4, STAU2, CCDC124, DDX50, H1F0, C1orf35, NOC3L, NOP16, TCOF1, EBNA1BP2, IFRD2, RBM34, ZNF346, STAU1, LYAR, ZMAT3, BMI1, RALYL, ILF2, RASL10A, EHD1, IFI16, FBF1, BTRC, ELAVL2, MAGEB10, WDR46, RPL30, DGCR8, STRBP, RPL18A, RBM3, G3BP1, BRCA1 |
- 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 NMD3_PRKRA |
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 NMD3_PRKRA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PRKRA | C0242422 | Parkinsonian Disorders | 1 | CTD_human;HPO |
Tgene | PRKRA | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | PRKRA | C0393593 | Dystonia Disorders | 1 | CTD_human |
Tgene | PRKRA | C2677567 | DYSTONIA 16 (disorder) | 1 | ORPHANET;UNIPROT |
Tgene | PRKRA | C3714756 | Intellectual Disability | 1 | CTD_human |