Gene Page: EPAS1

Summary ?
GeneID2034
SymbolEPAS1
SynonymsECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73
Descriptionendothelial PAS domain protein 1
ReferenceMIM:603349|HGNC:HGNC:3374|Ensembl:ENSG00000116016|HPRD:06787|Vega:OTTHUMG00000128818
Gene typeprotein-coding
Map location2p21-p16
Pascal p-value0.41
Fetal beta-1.984
DMG2 (# studies)
eGeneCerebellum

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. 2
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg12608132246564242EPAS14.811E-40.5010.046DMG:Wockner_2014
cg01313320246526265EPAS19.5E-9-0.0124.22E-6DMG:Jaffe_2016


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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
EMID20.770.63
CYB5610.760.75
PDGFB0.750.74
MARCH110.740.65
RAB3B0.740.62
NXPH10.720.66
AC136632.10.710.58
TMEM2150.710.71
CHST10.700.65
C20orf1000.700.78
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
NEUROD6-0.28-0.09
AC087491.1-0.28-0.33
KLHL1-0.270.02
DACT1-0.270.05
SLA-0.270.03
PCSK9-0.27-0.18
AC132872.1-0.26-0.35
CHMP4A-0.26-0.27
UXT-0.26-0.35
GPR22-0.25-0.11

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG RENAL CELL CARCINOMA 7060All SZGR 2.0 genes in this pathway
PID HIF2PATHWAY 3429All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF HYPOXIA INDUCIBLE FACTOR HIF BY OXYGEN 2517All SZGR 2.0 genes in this pathway
REACTOME OXYGEN DEPENDENT PROLINE HYDROXYLATION OF HYPOXIA INDUCIBLE FACTOR ALPHA 1812All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
SAMOLS TARGETS OF KHSV MIRNAS DN 6235All SZGR 2.0 genes in this pathway
SMIRNOV CIRCULATING ENDOTHELIOCYTES IN CANCER UP 158103All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 8D DN 205127All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
PROVENZANI METASTASIS DN 13694All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK DN 196131All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK UP 197135All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169127All SZGR 2.0 genes in this pathway
MATTIOLI MGUS VS PCL 11662All SZGR 2.0 genes in this pathway
SCHEIDEREIT IKK INTERACTING PROTEINS 5845All SZGR 2.0 genes in this pathway
HERNANDEZ ABERRANT MITOSIS BY DOCETACEL 2NM UP 8157All SZGR 2.0 genes in this pathway
WEINMANN ADAPTATION TO HYPOXIA DN 4133All SZGR 2.0 genes in this pathway
TSUNODA CISPLATIN RESISTANCE DN 5138All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All SZGR 2.0 genes in this pathway
KIM MYCN AMPLIFICATION TARGETS DN 10359All SZGR 2.0 genes in this pathway
FALVELLA SMOKERS WITH LUNG CANCER 8052All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
WU CELL MIGRATION 184114All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
BENPORATH PRC2 TARGETS 652441All SZGR 2.0 genes in this pathway
STARK HYPPOCAMPUS 22Q11 DELETION UP 5340All SZGR 2.0 genes in this pathway
JI METASTASIS REPRESSED BY STK11 2717All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464276All SZGR 2.0 genes in this pathway
ONDER CDH1 SIGNALING VIA CTNNB1 8358All SZGR 2.0 genes in this pathway
SANA TNF SIGNALING DN 9057All SZGR 2.0 genes in this pathway
CROMER METASTASIS DN 8158All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
HARRIS HYPOXIA 8164All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN 830547All SZGR 2.0 genes in this pathway
JIANG AGING HYPOTHALAMUS DN 4031All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP 175116All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280183All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482296All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P4 10062All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS UP 388234All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317208All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578341All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN 9264All SZGR 2.0 genes in this pathway
MASRI RESISTANCE TO TAMOXIFEN AND AROMATASE INHIBITORS DN 2011All SZGR 2.0 genes in this pathway
LIN NPAS4 TARGETS UP 163100All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA DN 10063All SZGR 2.0 genes in this pathway
VART KSHV INFECTION ANGIOGENIC MARKERS DN 13892All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN 442275All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS 535325All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266180All SZGR 2.0 genes in this pathway
BAE BRCA1 TARGETS UP 7547All SZGR 2.0 genes in this pathway
HIRSCH CELLULAR TRANSFORMATION SIGNATURE UP 242159All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR DN 9156All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505328All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS UP 11265All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 4 11066All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway