Gene Page: ARAP1

Summary ?
GeneID116985
SymbolARAP1
SynonymsCENTD2
DescriptionArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
ReferenceMIM:606646|HGNC:HGNC:16925|Ensembl:ENSG00000186635|HPRD:09440|Vega:OTTHUMG00000157102
Gene typeprotein-coding
Map location11q13.4
Pascal p-value0.346
Sherlock p-value0.618
Fetal beta-0.442
eGeneCerebellum
Hippocampus
SupportCompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ARAP1chr1172423331GCNM_001040118
NM_001135190
NM_015242		p.311A>G
p.66A>G
p.66A>G		missense
missense
missense		SchizophreniaDNM:Fromer_2014


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:0005100Rho GTPase activator activityIDA11804590 
GO:0005547phosphatidylinositol-3,4,5-triphosphate bindingIDA11804589 
GO:0005515protein bindingIPI16169070 
GO:0008270zinc ion bindingIEA-
GO:0008060ARF GTPase activator activityIDA11804590 
GO:0008060ARF GTPase activator activityIEA-
GO:0046872metal ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0051491positive regulation of filopodium formationIMPaxon (GO term level: 12)11804590 
GO:0007165signal transductionIEA-
GO:0008360regulation of cell shapeIMP11804590 
GO:0030037actin filament reorganization during cell cycleTAS11804590 
GO:0043089positive regulation of Cdc42 GTPase activityIDA11804590 
GO:0032312regulation of ARF GTPase activityIEA-
GO:0051270regulation of cell motionIMP11804590 
GO:0051497negative regulation of stress fiber formationIMP11804590 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIDA11804590 
GO:0005622intracellularIEA-
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
PID RHOA REG PATHWAY 4630All SZGR 2.0 genes in this pathway
PID PDGFRB PATHWAY 129103All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY RHO GTPASES 11381All SZGR 2.0 genes in this pathway
BORCZUK MALIGNANT MESOTHELIOMA DN 10459All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS UP 269146All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142669All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 14296All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW DN 165107All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180110All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA UP 146104All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314188All SZGR 2.0 genes in this pathway
LEIN CEREBELLUM MARKERS 8547All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546362All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA UP 259185All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 LCP WITH H3K4ME3 16280All SZGR 2.0 genes in this pathway
MIKKELSEN MEF LCP WITH H3K4ME3 12868All SZGR 2.0 genes in this pathway
MIKKELSEN IPS LCP WITH H3K4ME3 174100All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway