Summary ?
GeneID22897
SymbolCEP164
SynonymsNPHP15
Descriptioncentrosomal protein 164kDa
ReferenceMIM:614848|HGNC:HGNC:29182|Ensembl:ENSG00000110274|HPRD:10854|Vega:OTTHUMG00000167070
Gene typeprotein-coding
Map location11q23.3
Pascal p-value0.838
Sherlock p-value0.449
Fetal beta-0.262
eGeneCerebellar Hemisphere
Cerebellum
Myers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IGenome scan meta-analysisPsr: 0.006 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CEP164chr11117209324AGNM_001271933
NM_014956
p.8I>V
p.8I>V
missense
missense
SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16955618chr1529937543CEP164228972.441E-4trans
rs7171526chr1562709923CEP164228970.14trans

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
KIAA17150.890.90
OPA10.880.91
RAB6A0.880.86
C5orf220.880.88
RPRD1A0.880.90
ZDHHC170.880.90
CAB390.880.88
GDAP10.880.89
USP140.880.87
ARMCX30.880.88
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HIGD1B-0.61-0.62
FXYD1-0.60-0.60
CSAG1-0.58-0.58
MT-CO2-0.58-0.56
AF347015.21-0.58-0.53
AF347015.31-0.57-0.57
GSDMD-0.57-0.60
METRN-0.57-0.60
IFI27-0.57-0.59
AF347015.2-0.57-0.52

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID ATR PATHWAY 3925All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME RECRUITMENT OF MITOTIC CENTROSOME PROTEINS AND COMPLEXES 6643All SZGR 2.0 genes in this pathway
REACTOME LOSS OF NLP FROM MITOTIC CENTROSOMES 5938All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G2 G2 M PHASES 8150All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418263All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION DN 329219All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
ODONNELL METASTASIS UP 8258All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All SZGR 2.0 genes in this pathway
SASAKI ADULT T CELL LEUKEMIA 176122All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS UP 425253All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING UP 9362All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS DN 242146All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/984834891Ahsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU