Gene Page: IFT57

Summary ?
GeneID55081
SymbolIFT57
SynonymsESRRBL1|HIPPI|MHS4R2
Descriptionintraflagellar transport 57
ReferenceMIM:606621|HGNC:HGNC:17367|Ensembl:ENSG00000114446|HPRD:09430|Vega:OTTHUMG00000159223
Gene typeprotein-coding
Map location3q13.13
Pascal p-value4.378E-4
Sherlock p-value1.549E-5
Fetal beta-0.943
eGeneMyers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.04359 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.04047 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17232450chr3107869894IFT57550810.02cis
rs17232556chr3107877462IFT57550810.02cis
rs17232563chr3107877537IFT57550810.02cis
rs11928715chr3107890217IFT57550810.02cis
rs17829213chr3107890926IFT57550810.02cis
rs7632036chr3107895325IFT57550810.02cis
rs9840611chr3107895760IFT57550810.02cis
rs2701061chr3107926125IFT57550810.03cis
rs1289745chr3107926257IFT57550810cis
rs1289744chr3107926339IFT57550810.01cis
rs11924195chr3107926517IFT57550810.02cis
rs1034496chr3107939783IFT57550810.03cis
rs1289745chr3107926257IFT57550810.19trans

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 III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003677DNA bindingIEA-
GO:0005515protein bindingIPI18188704 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006355regulation of transcription, DNA-dependentIEA-
GO:0006350transcriptionIEA-
GO:0006919caspase activationIDA11788820 
GO:0042981regulation of apoptosisIDA11788820 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIEA-
GO:0005932basal bodyISS-
GO:0005929ciliumIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG HUNTINGTONS DISEASE 185109All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 DN 267178All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN 526357All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA DN 349157All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY DN 13870All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK DN 7954All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI DN 172107All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473224All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN T LYMPHOCYTE UP 127All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE UP 15692All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578341All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN 9264All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway