Gene Page: EFHD1

Summary ?
GeneID80303
SymbolEFHD1
SynonymsMST133|MSTP133|PP3051|SWS2
DescriptionEF-hand domain family member D1
ReferenceMIM:611617|HGNC:HGNC:29556|Ensembl:ENSG00000115468|HPRD:13265|Vega:OTTHUMG00000133263
Gene typeprotein-coding
Map location2q37.1
Pascal p-value6.476E-7
Sherlock p-value0.804
Fetal beta-3.629
eGeneMyers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6829546chr412587664EFHD1803030.05trans
rs6448932chr412595798EFHD1803030.08trans
rs6632306chrX35590460EFHD1803030.04trans
rs1935404chrX35605181EFHD1803030.14trans

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
KLHL250.870.83
H1FX0.840.81
SPATA5L10.840.77
MEX3D0.840.87
SLC25A10.840.84
MARCKSL10.840.89
TRIM280.830.82
REC80.830.84
DBN10.830.81
TSKU0.830.89
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HLA-F-0.64-0.70
C5orf53-0.64-0.75
FBXO2-0.63-0.65
CA4-0.60-0.73
AF347015.27-0.60-0.76
S100B-0.60-0.72
ALDOC-0.60-0.63
CSRP1-0.60-0.71
AIFM3-0.59-0.62
LDHD-0.59-0.60

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005509calcium ion bindingIEA-
GO:0005515protein bindingIPI17353931 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0031175neurite developmentIEAneuron, axon, neurite, dendrite (GO term level: 10)-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005743mitochondrial inner membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
LIU CMYB TARGETS UP 165106All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
VANHARANTA UTERINE FIBROID DN 6745All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
LUCAS HNF4A TARGETS UP 5836All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2B 392251All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS LUMINAL 326213All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330217All SZGR 2.0 genes in this pathway
LIEN BREAST CARCINOMA METAPLASTIC VS DUCTAL DN 11458All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS DN 12479All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP 344180All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411249All SZGR 2.0 genes in this pathway
LE EGR2 TARGETS DN 10884All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS DN 7455All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP 262186All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220147All SZGR 2.0 genes in this pathway
RIGGI EWING SARCOMA PROGENITOR UP 430288All SZGR 2.0 genes in this pathway
RAY TUMORIGENESIS BY ERBB2 CDC25A DN 159105All SZGR 2.0 genes in this pathway
MOOTHA PGC 420269All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR UP 221150All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR UP 293203All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS UP 10878All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395249All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 6 7548All 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
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway
WANG MLL TARGETS 289188All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway