Gene Page:EPPK1

Summary?
GeneID 83481
Symbol EPPK1
Synonyms EPIPL|EPIPL1
Description epiplakin 1
Reference MIM:607553|HGNC:HGNC:15577|Ensembl:ENSG00000261150|HPRD:06500|Vega:OTTHUMG00000165206
Gene type protein-coding
Map location 8q24.3
Pascal p-value 0.007
eGene Cerebellar Hemisphere
Cerebellum
Support CompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
EPPK1 chr8 144940886 C T NM_031308 p.2179R>Q missense Schizophrenia DNM: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
Gene Pearson's Correlation Spearman's Correlation
CCDC40 0.85 0.70
RP1-199H16.1 0.82 0.64
C3orf15 0.82 0.58
HYDIN 0.81 0.69
DNAH11 0.79 0.39
C12orf55 0.78 0.42
ZNF474 0.78 0.52
DNAI1 0.77 0.27
C21orf62 0.76 0.46
CCDC37 0.76 0.57
Top 10 negatively co-expressed genes
Gene Pearson'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 name Pathway size # SZGR 2.0 genes in pathway Info
SENGUPTA NASOPHARYNGEAL CARCINOMA DN 349 157 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST NORMAL DUCTAL VS LOBULAR UP 68 40 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL DN 74 42 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450 256 All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430 232 All SZGR 2.0 genes in this pathway
BARRIER COLON CANCER RECURRENCE DN 20 16 All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258 141 All SZGR 2.0 genes in this pathway
NAGASHIMA NRG1 SIGNALING UP 176 123 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230 115 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS A DN 90 61 All SZGR 2.0 genes in this pathway
WONG ENDMETRIUM CANCER UP 25 17 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355 243 All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205 145 All SZGR 2.0 genes in this pathway
AIGNER ZEB1 TARGETS 35 15 All SZGR 2.0 genes in this pathway
LIEN BREAST CARCINOMA METAPLASTIC VS DUCTAL DN 114 58 All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382 224 All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261 155 All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE UP 283 177 All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 8Q23 Q24 AMPLICON 157 87 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528 324 All SZGR 2.0 genes in this pathway
MUELLER PLURINET 299 189 All SZGR 2.0 genes in this pathway
LEE NAIVE T LYMPHOCYTE 19 10 All SZGR 2.0 genes in this pathway
MEISSNER ES ICP WITH H3K4ME3 34 17 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536 296 All SZGR 2.0 genes in this pathway
MEISSNER NPC ICP WITH H3 UNMETHYLATED 24 15 All SZGR 2.0 genes in this pathway
迈斯纳大脑HCP H3 UNMETHYLATED 37 21 All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668 419 All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288 168 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3 UNMETHYLATED 228 119 All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882 506 All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS DN 211 119 All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL UP 289 184 All SZGR 2.0 genes in this pathway