Gene Page: EPPK1

Summary ?
GeneID83481
SymbolEPPK1
SynonymsEPIPL|EPIPL1
Descriptionepiplakin 1
ReferenceMIM:607553|HGNC:HGNC:15577|Ensembl:ENSG00000261150|HPRD:06500|Vega:OTTHUMG00000165206
Gene typeprotein-coding
Map location8q24.3
Pascal p-value0.007
eGeneCerebellar Hemisphere
Cerebellum
SupportCompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
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.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EPPK1chr8144940886CTNM_031308p.2179R>QmissenseSchizophreniaDNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CCDC400.850.70
RP1-199H16.10.820.64
C3orf150.820.58
HYDIN0.810.69
DNAH110.790.39
C12orf550.780.42
ZNF4740.780.52
DNAI10.770.27
C21orf620.760.46
CCDC370.760.57
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
C5orf53-0.36-0.56
CA11-0.35-0.54
CA4-0.35-0.49
AF347015.27-0.34-0.52
AF347015.31-0.34-0.53
MT-CO2-0.33-0.53
ASPHD1-0.33-0.42
CCDC85B-0.33-0.55
HLA-F-0.33-0.41
EPHX4-0.33-0.45

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SENGUPTA NASOPHARYNGEAL CARCINOMA DN 349157All SZGR 2.0 genes in this pathway
TURASHVILI BREAST NORMAL DUCTAL VS LOBULAR UP 6840All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL DN 7442All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
BARRIER COLON CANCER RECURRENCE DN 2016All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258141All SZGR 2.0 genes in this pathway
NAGASHIMA NRG1 SIGNALING UP 176123All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230115All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS A DN 9061All SZGR 2.0 genes in this pathway
WONG ENDMETRIUM CANCER UP 2517All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205145All SZGR 2.0 genes in this pathway
AIGNER ZEB1 TARGETS 3515All SZGR 2.0 genes in this pathway
LIEN BREAST CARCINOMA METAPLASTIC VS DUCTAL DN 11458All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261155All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE UP 283177All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 8Q23 Q24 AMPLICON 15787All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
MUELLER PLURINET 299189All SZGR 2.0 genes in this pathway
LEE NAIVE T LYMPHOCYTE 1910All SZGR 2.0 genes in this pathway
MEISSNER ES ICP WITH H3K4ME3 3417All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536296All SZGR 2.0 genes in this pathway
MEISSNER NPC ICP WITH H3 UNMETHYLATED 2415All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3 UNMETHYLATED 3721All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288168All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3 UNMETHYLATED 228119All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS DN 211119All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL UP 289184All SZGR 2.0 genes in this pathway