Summary ?
GeneID29924
SymbolEPN1
Synonyms-
Descriptionepsin 1
ReferenceMIM:607262|HGNC:HGNC:21604|Ensembl:ENSG00000063245|HPRD:06270|Vega:OTTHUMG00000180911
Gene typeprotein-coding
Map location19q13.42
Pascal p-value0.058
Sherlock p-value0.233
Fetal beta-0.313
DMG1 (# studies)
SupportCompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:vanEijk_2014Genome-wide DNA methylation analysisThis dataset includes 432 differentially methylated CpG sites corresponding to 391 unique transcripts between schizophrenia patients (n=260) and unaffected controls (n=250). 1
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0058 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg173879161955896965EPN13.549E-43.328DMG:vanEijk_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:0008289lipid bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006897endocytosisTAS9723620 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIEA-
GO:0005737cytoplasmIEA-
GO:0005905coated pitIEA-
GO:0005886plasma membraneEXP10567358 |12218189 |15962011 
GO:0005886plasma membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AP2A1ADTAA | AP2-ALPHA | CLAPA1adaptor-related protein complex 2, alpha 1 subunit-HPRD9723620 
AP2A2ADTAB | CLAPA2 | HIP9 | HYPJadaptor-related protein complex 2, alpha 2 subunitAffinity Capture-Western
Reconstituted Complex
BioGRID9723620 
CLTCCHC | CHC17 | CLH-17 | CLTCL2 | Hc | KIAA0034clathrin, heavy chain (Hc)-HPRD,BioGRID10692452 
CRMP1DPYSL1 | DRP-1 | DRP1collapsin response mediator protein 1Two-hybridBioGRID16169070 
EPS15AF-1P | AF1P | MLLT5epidermal growth factor receptor pathway substrate 15-HPRD,BioGRID9723620 
EPS15L1EPS15Repidermal growth factor receptor pathway substrate 15-like 1Affinity Capture-WesternBioGRID9723620 
GTF3AAP2 | TFIIIAgeneral transcription factor IIIAAffinity Capture-WesternBioGRID12775724 
KIAA1377-KIAA1377Two-hybridBioGRID16169070 
MED313110004H13Rik | CGI-125 | FLJ27436 | FLJ36714 | Soh1mediator complex subunit 31Two-hybridBioGRID16169070 
RALBP1RIP1 | RLIP1 | RLIP76ralA binding protein 1Affinity Capture-WesternBioGRID12775724 
REPS2POB1RALBP1 associated Eps domain containing 2-HPRD,BioGRID10557078 
ZBTB16PLZF | ZNF145zinc finger and BTB domain containing 16-HPRD10791968 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
BIOCARTA NDKDYNAMIN PATHWAY 2115All SZGR 2.0 genes in this pathway
PID ERBB1 INTERNALIZATION PATHWAY 4135All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY EGFR IN CANCER 10980All SZGR 2.0 genes in this pathway
REACTOME EGFR DOWNREGULATION 2514All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE DN 244147All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335193All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL SUBOPTIMAL DEBULKING 510309All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER UP 298174All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-2375811Ahsa-miR-23abrainAUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrainAUCACAUUGCCAGGGAUUACC