Summary ?
GeneID2049
SymbolEPHB3
SynonymsETK2|HEK2|TYRO6
DescriptionEPH receptor B3
ReferenceMIM:601839|HGNC:HGNC:3394|Ensembl:ENSG00000182580|HPRD:03502|Vega:OTTHUMG00000156710
Gene typeprotein-coding
Map location3q27.1
Pascal p-value0.568
Fetal beta-0.63

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.
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EPHB3chr3184295448CTNM_004443
NM_004443
.
.
silent
splice
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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AL161668.20.910.91
MRC20.900.79
SMO0.900.87
EPHB40.880.81
MMP140.880.83
CHST140.870.84
PALLD0.870.81
PRKD20.870.75
PTBP10.860.85
DDR10.860.82
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
C5orf53-0.41-0.43
CA4-0.39-0.39
EPHX4-0.38-0.40
SERPINI1-0.38-0.39
CHN1-0.37-0.35
RERGL-0.37-0.46
KMO-0.37-0.43
ABCC12-0.36-0.42
AF347015.21-0.36-0.46
AF347015.31-0.36-0.40

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0008046axon guidance receptor activityIEAaxon (GO term level: 6)-
GO:0000166nucleotide bindingIEA-
GO:0004872receptor activityIEA-
GO:0005003ephrin receptor activityIEA-
GO:0005524ATP bindingIEA-
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007411axon guidanceIEAaxon (GO term level: 13)-
GO:0007169transmembrane receptor protein tyrosine kinase signaling pathwayIEA-
GO:0006468protein amino acid phosphorylationIEA-
GO:0007165signal transductionTAS8397371 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0005887integral to plasma membraneTAS8397371 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG AXON GUIDANCE 129103All SZGR 2.0 genes in this pathway
PID EPHB FWD PATHWAY 4038All SZGR 2.0 genes in this pathway
DAVICIONI MOLECULAR ARMS VS ERMS DN 182111All SZGR 2.0 genes in this pathway
HOOI ST7 TARGETS DN 12378All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP 380236All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All 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
HUMMERICH SKIN CANCER PROGRESSION DN 10064All SZGR 2.0 genes in this pathway
AIYAR COBRA1 TARGETS DN 2918All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All 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
ONDER CDH1 TARGETS 1 UP 14085All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS DN 6639All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL RUNX1 96All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS UP 12684All SZGR 2.0 genes in this pathway
HOEGERKORP CD44 TARGETS DIRECT DN 147All SZGR 2.0 genes in this pathway
NATSUME RESPONSE TO INTERFERON BETA UP 7149All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE UP 244165All SZGR 2.0 genes in this pathway
VERRECCHIA RESPONSE TO TGFB1 C1 1915All SZGR 2.0 genes in this pathway
DELLA RESPONSE TO TSA AND BUTYRATE 2117All SZGR 2.0 genes in this pathway
VERRECCHIA EARLY RESPONSE TO TGFB1 5843All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 11 5740All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS 212121All SZGR 2.0 genes in this pathway
SANSOM WNT PATHWAY REQUIRE MYC 5843All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE DN 315197All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
VART KSHV INFECTION ANGIOGENIC MARKERS UP 165118All SZGR 2.0 genes in this pathway
VART KSHV INFECTION ANGIOGENIC MARKERS DN 13892All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE MIDDLE 9856All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP 259159All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway
GHANDHI BYSTANDER IRRADIATION DN 1210All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1496106171A,m8hsa-miR-149brainUCUGGCUCCGUGUCUUCACUCC
miR-194854921A,m8hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-29538544m8hsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
miR-3265925991A,m8hsa-miR-326CCUCUGGGCCCUUCCUCCAG
miR-3394904961Ahsa-miR-339UCCCUGUCCUCCAGGAGCUCA