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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24483

FusionGeneSummary for NMD3_PRKRA

check button Fusion gene summary
Fusion gene informationFusion gene name: NMD3_PRKRA
Fusion gene ID: 24483
HgeneTgene
Gene symbol

NMD3

PRKRA

Gene ID

51068

8575

Gene nameNMD3 ribosome export adaptorprotein activator of interferon induced protein kinase EIF2AK2
SynonymsCGI-07DYT16|HSD14|PACT|RAX
Cytomap

3q26.1

2q31.2

Type of geneprotein-codingprotein-coding
Description60S ribosomal export protein NMD3NMD3 homologhNMD3interferon-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 date2018052320180522
UniProtAcc

Q96D46

O75569

Ensembl transtripts involved in fusion geneENST00000351193, ENST00000472947, 
ENST00000460469, ENST00000478160, 
ENST00000325748, ENST00000438687, 
ENST00000487082, ENST00000432031, 
ENST00000470200, 
Fusion gene scores* DoF score4 X 4 X 4=641 X 1 X 1=1
# samples 51
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePRKRA

GO:0030422

production of siRNA involved in RNA interference

17452327

TgenePRKRA

GO:0031054

pre-miRNA processing

16424907|23661684

TgenePRKRA

GO:0035196

production of miRNAs involved in gene silencing by miRNA

23661684


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUSCTCGA-66-2800-01ANMD3chr3

160942852

+PRKRAchr2

179308111

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000351193ENST00000325748NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000351193ENST00000438687NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000351193ENST00000487082NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000351193ENST00000432031NMD3chr3

160942852

+PRKRAchr2

179308111

-
5CDS-intronENST00000351193ENST00000470200NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000472947ENST00000325748NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000472947ENST00000438687NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000472947ENST00000487082NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000472947ENST00000432031NMD3chr3

160942852

+PRKRAchr2

179308111

-
5CDS-intronENST00000472947ENST00000470200NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000460469ENST00000325748NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000460469ENST00000438687NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000460469ENST00000487082NMD3chr3

160942852

+PRKRAchr2

179308111

-
Frame-shiftENST00000460469ENST00000432031NMD3chr3

160942852

+PRKRAchr2

179308111

-
5CDS-intronENST00000460469ENST00000470200NMD3chr3

160942852

+PRKRAchr2

179308111

-
intron-3CDSENST00000478160ENST00000325748NMD3chr3

160942852

+PRKRAchr2

179308111

-
intron-3CDSENST00000478160ENST00000438687NMD3chr3

160942852

+PRKRAchr2

179308111

-
intron-3CDSENST00000478160ENST00000487082NMD3chr3

160942852

+PRKRAchr2

179308111

-
intron-3CDSENST00000478160ENST00000432031NMD3chr3

160942852

+PRKRAchr2

179308111

-
intron-intronENST00000478160ENST00000470200NMD3chr3

160942852

+PRKRAchr2

179308111

-

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FusionProtFeatures for NMD3_PRKRA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NMD3

Q96D46

PRKRA

O75569

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NMD3_PRKRA


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NMD3XPO1, 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, KLHDC2PRKRASYNCRIP, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NMD3_PRKRA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NMD3_PRKRA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKRAC0242422Parkinsonian Disorders1CTD_human;HPO
TgenePRKRAC0376634Craniofacial Abnormalities1CTD_human
TgenePRKRAC0393593Dystonia Disorders1CTD_human
TgenePRKRAC2677567DYSTONIA 16 (disorder)1ORPHANET;UNIPROT
TgenePRKRAC3714756Intellectual Disability1CTD_human