Gene Page: NUP54

Summary ?
GeneID53371
SymbolNUP54
Synonyms-
Descriptionnucleoporin 54kDa
ReferenceMIM:607607|HGNC:HGNC:17359|Ensembl:ENSG00000138750|HPRD:06352|Vega:OTTHUMG00000130098
Gene typeprotein-coding
Map location4q21.1
Pascal p-value0.268
Sherlock p-value0.832
Fetal beta1.08
eGeneCaudate basal ganglia
Hypothalamus
Nucleus accumbens basal ganglia
Myers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
NUP54chr477038831GANM_017426p.461R>*nonsenseSchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6040607chr2011371092NUP54533710.13trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME METABOLISM OF NON CODING RNA 4929All SZGR 2.0 genes in this pathway
REACTOME ANTIVIRAL MECHANISM BY IFN STIMULATED GENES 6645All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRON CONTAINING PRE MRNA 14077All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE TRANSCRIPT TO CYTOPLASM 5434All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME MRNA PROCESSING 16186All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE MRNA DERIVED FROM AN INTRONLESS TRANSCRIPT 3321All SZGR 2.0 genes in this pathway
REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT 241157All SZGR 2.0 genes in this pathway
REACTOME GLUCOSE TRANSPORT 3829All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF RNA 330155All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159116All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF CARBOHYDRATES 247154All SZGR 2.0 genes in this pathway
REACTOME INFLUENZA LIFE CYCLE 20372All SZGR 2.0 genes in this pathway
REACTOME NEP NS2 INTERACTS WITH THE CELLULAR EXPORT MACHINERY 2719All SZGR 2.0 genes in this pathway
REACTOME HIV INFECTION 207122All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF RIBONUCLEOPROTEINS INTO THE HOST NUCLEUS 2719All SZGR 2.0 genes in this pathway
REACTOME HIV LIFE CYCLE 12569All SZGR 2.0 genes in this pathway
REACTOME HOST INTERACTIONS OF HIV FACTORS 13281All SZGR 2.0 genes in this pathway
REACTOME LATE PHASE OF HIV LIFE CYCLE 10461All SZGR 2.0 genes in this pathway
REACTOME INTERACTIONS OF VPR WITH HOST CELLULAR PROTEINS 3321All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF GLUCOKINASE BY GLUCOKINASE REGULATORY PROTEIN 2719All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270204All SZGR 2.0 genes in this pathway
GAZDA DIAMOND BLACKFAN ANEMIA PROGENITOR DN 6642All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP 536340All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 5 6WK UP 11668All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP 344180All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
YU MYC TARGETS UP 4226All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP 518299All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
STAMBOLSKY RESPONSE TO VITAMIN D3 DN 2614All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP 504321All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918550All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway