Gene Page:ORMDL1

Summary?
GeneID 94101
Symbol ORMDL1
Synonyms -
Description ORMDL sphingolipid biosynthesis regulator 1
Reference MIM:610073|HGNC:HGNC:16036|Ensembl:ENSG00000128699|HPRD:15092|Vega:OTTHUMG00000132661
Gene type protein-coding
Map location 2q32
Pascal p-value 0.249
Fetal beta 0.717
DMG 1 (# studies)
eGene Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Frontal Cortex BA9
Hippocampus
Hypothalamus
Nucleus accumbens basal ganglia
Myers' cis & trans
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 2
DNM:Guipponi_2014 Whole Exome Sequencing analysis 49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
ORMDL1 G A NM_001128150 p.K100K synonymous NA NA Schizophrenia DNM:Guipponi_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg08891424 2 190648631 ORMDL1 6.42E-10 -0.013 9.43E-7 DMG:Jaffe_2016
cg26454191 2 190648463 ORMDL1 7.2E-8 -0.01 1.73E-5 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs4667295 chr2 190504389 ORMDL1 94101 0.02 cis
rs2289226 chr2 190526204 ORMDL1 94101 5.878E-4 cis
rs7557519 chr2 190583186 ORMDL1 94101 0.05 cis
rs1550388 chr2 190603779 ORMDL1 94101 0.01 cis
rs2033870 chr2 190603829 ORMDL1 94101 0 cis
rs4666783 chr2 190612979 ORMDL1 94101 0.01 cis
rs3791767 chr2 190639914 ORMDL1 94101 0.02 cis
rs7591929 chr2 190643256 ORMDL1 94101 5.737E-4 cis
rs2289226 chr2 190526204 ORMDL1 94101 0.05 trans
rs2033870 chr2 190603829 ORMDL1 94101 0.16 trans
rs7591929 chr2 190643256 ORMDL1 94101 0.04 trans
rs7495645 chr15 92139578 ORMDL1 94101 0.07 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凌晨ks), 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 name Pathway size # SZGR 2.0 genes in pathway Info
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455 304 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501 327 All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278 748 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648 385 All SZGR 2.0 genes in this pathway
UEDA CENTRAL CLOCK 88 62 All SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL 311 205 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720 440 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482 296 All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022 619 All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356 214 All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397 206 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137 655 All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467 251 All SZGR 2.0 genes in this pathway