Gene Page: ORMDL1

Summary ?
GeneID94101
SymbolORMDL1
Synonyms-
DescriptionORMDL sphingolipid biosynthesis regulator 1
ReferenceMIM:610073|HGNC:HGNC:16036|Ensembl:ENSG00000128699|HPRD:15092|Vega:OTTHUMG00000132661
Gene typeprotein-coding
Map location2q32
Pascal p-value0.249
Fetal beta0.717
DMG1 (# studies)
eGeneCaudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Frontal Cortex BA9
Hippocampus
Hypothalamus
Nucleus accumbens basal ganglia
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis 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_2014Whole Exome Sequencing analysis49 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

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ORMDL1GANM_001128150p.K100KsynonymousNANASchizophreniaDNM:Guipponi_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg088914242190648631ORMDL16.42E-10-0.0139.43E-7DMG:Jaffe_2016
cg264541912190648463ORMDL17.2E-8-0.011.73E-5DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4667295chr2190504389ORMDL1941010.02cis
rs2289226chr2190526204ORMDL1941015.878E-4cis
rs7557519chr2190583186ORMDL1941010.05cis
rs1550388chr2190603779ORMDL1941010.01cis
rs2033870chr2190603829ORMDL1941010cis
rs4666783chr2190612979ORMDL1941010.01cis
rs3791767chr2190639914ORMDL1941010.02cis
rs7591929chr2190643256ORMDL1941015.737E-4cis
rs2289226chr2190526204ORMDL1941010.05trans
rs2033870chr2190603829ORMDL1941010.16trans
rs7591929chr2190643256ORMDL1941010.04trans
rs7495645chr1592139578ORMDL1941010.07trans

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
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501327All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
UEDA CENTRAL CLOCK 8862All SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL 311205All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482296All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467251All SZGR 2.0 genes in this pathway