Gene Page: ABHD12

Summary ?
GeneID26090
SymbolABHD12
SynonymsABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2
Descriptionabhydrolase domain containing 12
ReferenceMIM:613599|HGNC:HGNC:15868|Ensembl:ENSG00000100997|HPRD:07094|Vega:OTTHUMG00000032121
Gene typeprotein-coding
Map location20p11.21
Pascal p-value0.141
Sherlock p-value0.647
Fetal beta-1.318
DMG1 (# studies)
eGeneCortex
Nucleus accumbens basal ganglia
Myers' cis & trans
Meta
SupportCompositeSet

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. 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
ExpressionMeta-analysis of gene expressionP value: 1.631 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ABHD12chr2025290190GANM_001042472
NM_015600		p.214T>M
p.214T>M		missense
missense		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg173511162025371719ABHD123.67E-10-0.017.44E-7DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6138506chr2025115635ABHD12260900.18cis
rs2268879chr2025177804ABHD12260900.01cis
rs6050422chr2025177919ABHD12260900.01cis
rs6083776chr2025186115ABHD12260905.564E-7cis
rs7453chr2025207073ABHD12260902.349E-16cis
rs3746337chr2025208271ABHD12260905.858E-11cis
rs6132819chr2025218617ABHD12260903.314E-16cis
rs8184820chr2025250576ABHD12260901.026E-9cis
rs2257233chr2025265983ABHD12260902.687E-18cis
rs2257991chr2025270338ABHD12260902.007E-18cis
rs2474777chr2025272632ABHD12260907.986E-18cis
rs2258719chr2025275842ABHD12260907.986E-18cis
rs1888999chr2025291847ABHD12260907.986E-18cis
rs2297497chr2025297908ABHD12260902.687E-18cis
rs7267979chr2025298086ABHD12260907.986E-18cis
rs2274890chr2025301021ABHD12260903.82E-8cis
rs6050559chr2025329914ABHD12260901.914E-17cis
rs6050565chr2025347562ABHD12260905.359E-16cis
rs4815411chr2025350222ABHD12260901.025E-18cis
rs4815412chr2025350324ABHD12260901.025E-18cis
rs6050573chr2025366064ABHD12260901.374E-18cis
rs6050598chr2025397256ABHD12260901.025E-18cis
rs12428chr2025433820ABHD12260907.882E-19cis
rs449370chr2025451179ABHD12260901.99E-18cis
rs376742chr2025487416ABHD12260905.987E-17cis
rs7272126chr2025488883ABHD12260900.03cis
rs16987806chr2025492189ABHD12260900.03cis
rs6115202chr2025497537ABHD12260901.177E-7cis
rs443009chr2025499816ABHD12260905.538E-16cis
rs6138598chr2025513535ABHD12260900.06cis
rs6083877chr2025520938ABHD12260903.218E-4cis
rs1983974chr2025530618ABHD12260905.987E-17cis
rs6138601chr2025539485ABHD12260900.11cis
rs6132862chr2025721247ABHD12260900.15cis
rs6115458chr2025969264ABHD12260906.475E-6cis
rs845778chr2026167546ABHD12260900.03cis
rs845779chr2026167979ABHD12260909.858E-6cis
rs845794chr2026222698ABHD12260900.06cis
rs845796chr2026225144ABHD12260900.16cis
rs6083776chr2025186115ABHD12260901.094E-4trans
rs7453chr2025207073ABHD12260905.535E-14trans
rs3746337chr2025208271ABHD12260901.507E-8trans
rs6132819chr2025218617ABHD12260907.891E-14trans
rs81830790ABHD12260909.312E-9trans
rs8184820chr2025250576ABHD12260902.533E-7trans
rs2257233chr2025265983ABHD12260905.421E-16trans
rs2257991chr2025270338ABHD12260903.905E-16trans
rs2474777chr2025272632ABHD12260901.778E-15trans
rs2258719chr2025275842ABHD12260901.778E-15trans
rs1888999chr2025291847ABHD12260901.778E-15trans
rs2297497chr2025297908ABHD12260905.443E-16trans
rs7267979chr2025298086ABHD12260901.818E-15trans
rs2274890chr2025301021ABHD12260908.87E-6trans
rs6050559chr2025329914ABHD12260904.451E-15trans
rs6050565chr2025347562ABHD12260901.313E-13trans
rs4815411chr2025350222ABHD12260901.71E-16trans
rs4815412chr2025350324ABHD12260901.71E-16trans
rs6050573chr2025366064ABHD12260902.309E-16trans
rs65156410ABHD12260905.802E-11trans
rs6050598chr2025397256ABHD12260901.699E-16trans
rs64175890ABHD12260901.317E-13trans
rs12428chr2025433820ABHD12260901.151E-16trans
rs449370chr2025451179ABHD12260903.524E-16trans
rs376742chr2025487416ABHD12260901.448E-14trans
rs6115202chr2025497537ABHD12260902.566E-5trans
rs443009chr2025499816ABHD12260901.379E-13trans
rs6083877chr2025520938ABHD12260900.03trans
rs1983974chr2025530618ABHD12260901.448E-14trans
rs6115458chr2025969264ABHD12260900trans
rs845779chr2026167979ABHD12260900trans

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 UP 380215All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY DN 13870All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 10D DN 14290All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY UP 236139All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS MODERATELY UP 10969All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487286All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA MF UP 4727All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN 457302All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS CONFLUENT 567365All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway