Summary ?
GeneID1947
SymbolEFNB1
SynonymsCFND|CFNS|EFB1|EFL3|EPLG2|Elk-L|LERK2
Descriptionephrin-B1
ReferenceMIM:300035|HGNC:HGNC:3226|Ensembl:ENSG00000090776|HPRD:02072|Vega:OTTHUMG00000021751
Gene typeprotein-coding
Map locationXq12
Fetal beta0.993

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:PGC128Genome-wide Association StudyA multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0172 

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance
rs5937157chrX68377126TG5.742E-11intergenicEFNB1,PJA1dist=315120;dist=3455


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
GRIN2A0.910.86
DLGAP20.900.82
MEF2D0.890.74
DIRAS20.890.77
TMEM132D0.880.82
KCNB10.880.76
IQSEC20.880.82
TRHDE0.880.86
MFSD40.870.88
PITPNM30.870.86
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
BCL7C-0.46-0.57
HEBP2-0.46-0.66
GTF3C6-0.43-0.45
RPL23A-0.43-0.52
FADS2-0.43-0.39
C9orf46-0.42-0.48
C21orf57-0.42-0.49
TRAF4-0.41-0.50
RPS12-0.41-0.56
DYNLT1-0.40-0.56

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI9883737 
GO:0005515protein bindingISS-
GO:0046875ephrin receptor bindingTAS8798744 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007411axon guidanceIEAaxon (GO term level: 13)-
GO:0007399nervous system developmentIEAneurite (GO term level: 5)-
GO:0001755neural crest cell migrationIEA-
GO:0007155cell adhesionTAS8798744 
GO:0007267cell-cell signalingTAS8798744 
GO:0009880embryonic pattern specificationIEA-
GO:0007275multicellular organismal developmentIEA-
GO:0030154cell differentiationIEA-
GO:0042102positive regulation of T cell proliferationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0045202synapseISSneuron, Synap, Neurotransmitter, Glial (GO term level: 2)-
GO:0005625soluble fractionTAS8798744 
GO:0016020membraneIEA-
GO:0005887integral to plasma membraneTAS8660976 
GO:0045121membrane raftIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
EPHA3ETK | ETK1 | HEK | HEK4 | TYRO4EPH receptor A3Reconstituted ComplexBioGRID9195962 
EPHB1ELK | EPHT2 | FLJ37986 | Hek6 | NETEPH receptor B1The membrane bound ligand ELK-L interacts with the receptor ELK. This interaction was modeled on a demonstrated interaction between ELK-L from human and ELK from rat.BIND7973638 |8755474 
EPHB1ELK | EPHT2 | FLJ37986 | Hek6 | NETEPH receptor B1-HPRD,BioGRID10669731 |12223469 
EPHB2CAPB | DRT | EPHT3 | ERK | Hek5 | MGC87492 | PCBC | Tyro5EPH receptor B2-HPRD8878483 
EPHB2CAPB | DRT | EPHT3 | ERK | Hek5 | MGC87492 | PCBC | Tyro5EPH receptor B2The membrane bound ligand ELK-L interacts with the receptor NUK. This interaction was modeled on a demonstrated interaction between ELK-L from human and NUK from mouse.BIND8755474 
GRIP2-glutamate receptor interacting protein 2in vitro
in vivo
Two-hybrid
BioGRID9883737 |10197531 
NCK2GRB4 | NCKbetaNCK adaptor protein 2-HPRD11557983 
PICK1MGC15204 | PICK | PRKCABPprotein interacting with PRKCA 1-HPRD,BioGRID9883737 
PTPN13DKFZp686J1497 | FAP-1 | PNP1 | PTP-BAS | PTP-BL | PTP1E | PTPL1 | PTPLEprotein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)-HPRD,BioGRID9920925 
RGS3C2PA | FLJ20370 | FLJ31516 | FLJ90496 | PDZ-RGS3 | RGP3regulator of G-protein signaling 3-HPRD,BioGRID11301003 
SDCBPMDA-9 | ST1 | SYCL | TACIP18syndecan binding protein (syntenin)-HPRD,BioGRID9920925 
SORBS1CAP | DKFZp451C066 | DKFZp586P1422 | FLAF2 | FLJ12406 | KIAA1296 | R85FL | SH3D5 | SH3P12 | SORB1sorbin and SH3 domain containing 1-HPRD11557983 
SRCASV | SRC1 | c-SRC | p60-Srcv-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)-HPRD,BioGRID8878483 


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
PID EPHRINB REV PATHWAY 3025All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552347All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142669All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612367All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN 10064All SZGR 2.0 genes in this pathway
LIEN BREAST CARCINOMA METAPLASTIC VS DUCTAL UP 8351All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER DN 3624All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL FGF3 87All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP 398262All SZGR 2.0 genes in this pathway
GENTILE UV LOW DOSE UP 2719All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN 830547All SZGR 2.0 genes in this pathway
HENDRICKS SMARCA4 TARGETS DN 5334All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN 13588All SZGR 2.0 genes in this pathway
JACKSON DNMT1 TARGETS DN 2521All SZGR 2.0 genes in this pathway
BILD HRAS ONCOGENIC SIGNATURE 261166All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE NOT BY GAMMA IN WS 3322All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE DN 195135All SZGR 2.0 genes in this pathway
KYNG ENVIRONMENTAL STRESS RESPONSE UP 5641All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
VART KSHV INFECTION ANGIOGENIC MARKERS UP 165118All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
HOFFMANN SMALL PRE BII TO IMMATURE B LYMPHOCYTE DN 5033All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237159All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP 259159All SZGR 2.0 genes in this pathway
TERAO AOX4 TARGETS SKIN UP 3827All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-103/1078348401Ahsa-miR-103brainAGCAGCAUUGUACAGGGCUAUGA
hsa-miR-107brainAGCAGCAUUGUACAGGGCUAUCA
miR-124/506200206m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-129-5p7307361Ahsa-miR-129brainCUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5pCUUUUUGCGGUCUGGGCUUGCU
miR-140149615021Ahsa-miR-140brainAGUGGUUUUACCCUAUGGUAG
miR-15/16/195/424/497117811841Ahsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
miR-150130313091Ahsa-miR-150UCUCCCAACCCUUGUACCAGUG
miR-17-5p/20/93.mr/106/519.d11481154m8hsa-miR-17-5pCAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrainUAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106aAAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZUAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZCAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519dCAAAGUGCCUCCCUUUAGAGUGU
miR-185936942m8hsa-miR-185brainUGGAGAGAAAGGCAGUUC
miR-2087998051Ahsa-miR-208AUAAGACGAGCAAAAAGCUUGU
miR-34/449118911951Ahsa-miR-34abrainUGGCAGUGUCUUAGCUGGUUGUU
hsa-miR-34cAGGCAGUGUAGUUAGCUGAUUGC
hsa-miR-449UGGCAGUGUAUUGUUAGCUGGU
hsa-miR-449bAGGCAGUGUAUUGUUAGCUGGC
miR-381142514311Ahsa-miR-381UAUACAAGGGCAAGCUCUCUGU
miR-49163691Ahsa-miR-491brainAGUGGGGAACCCUUCCAUGAGGA
miR-496141214181Ahsa-miR-496AUUACAUGGCCAAUCUC
miR-4997998051Ahsa-miR-499UUAAGACUUGCAGUGAUGUUUAA
miR-503117811841Ahsa-miR-503UAGCAGCGGGAACAGUUCUGCAG