Summary?
GeneID 55081
Symbol IFT57
Synonyms ESRRBL1|HIPPI|MHS4R2
Description intraflagellar transport 57
Reference MIM:606621|HGNC:HGNC:17367|Ensembl:ENSG00000114446|HPRD:09430|Vega:OTTHUMG00000159223
Gene type protein-coding
Map location 3q13.13
Pascal p-value 4.378E-4
Sherlock p-value 1.549E-5
Fetal beta -0.943
eGene Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.04359
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.04047

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs17232450 chr3 107869894 IFT57 55081 0.02 cis
rs17232556 chr3 107877462 IFT57 55081 0.02 cis
rs17232563 chr3 107877537 IFT57 55081 0.02 cis
rs11928715 chr3 107890217 IFT57 55081 0.02 cis
rs17829213 chr3 107890926 IFT57 55081 0.02 cis
rs7632036 chr3 107895325 IFT57 55081 0.02 cis
rs9840611 chr3 107895760 IFT57 55081 0.02 cis
rs2701061 chr3 107926125 IFT57 55081 0.03 cis
rs1289745 chr3 107926257 IFT57 55081 0 cis
rs1289744 chr3 107926339 IFT57 55081 0.01 cis
rs11924195 chr3 107926517 IFT57 55081 0.02 cis
rs1034496 chr3 107939783 IFT57 55081 0.03 cis
rs1289745 chr3 107926257 IFT57 55081 0.19 trans

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
死神:胎儿(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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0003677 DNA binding IEA -
GO:0005515 protein binding 新闻学会 18188704
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006355 regulation of transcription, DNA-dependent IEA -
GO:0006350 transcription IEA -
GO:0006919 caspase activation IDA 11788820
GO:0042981 regulation of apoptosis IDA 11788820
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005794 Golgi apparatus IEA -
GO:0005932 basal body ISS -
GO:0005929 cilium IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG HUNTINGTONS DISEASE 185 109 All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 DN 267 178 All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN 526 357 All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA DN 349 157 All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY DN 138 70 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK DN 79 54 All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI DN 172 107 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911 527 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011 592 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473 224 All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491 310 All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN T LYMPHOCYTE UP 12 7 All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE UP 156 92 All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578 341 All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN 92 64 All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439 257 All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517 302 All SZGR 2.0 genes in this pathway