Gene Page:EFHD1

Summary?
GeneID 80303
Symbol EFHD1
Synonyms MST133|MSTP133|PP3051|SWS2
Description EF-hand domain family member D1
Reference MIM:611617|HGNC:HGNC:29556|Ensembl:ENSG00000115468|HPRD:13265|Vega:OTTHUMG00000133263
Gene type protein-coding
Map location 2q37.1
Pascal p-value 6.476E-7
Sherlock p-value 0.804
Fetal beta -3.629
eGene Myers' cis & trans
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:GWASdb Genome-wide Association Studies GWASdb records for schizophrenia
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search 系统搜索PubMed的genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs6829546 chr4 12587664 EFHD1 80303 0.05 trans
rs6448932 chr4 12595798 EFHD1 80303 0.08 trans
rs6632306 chrX 35590460 EFHD1 80303 0.04 trans
rs1935404 chrX 35605181 EFHD1 80303 0.14 trans

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
Gene Pearson's Correlation Spearman's Correlation
KLHL25 0.87 0.83
H1FX 0.84 0.81
SPATA5L1 0.84 0.77
MEX3D 0.84 0.87
SLC25A1 0.84 0.84
MARCKSL1 0.84 0.89
TRIM28 0.83 0.82
REC8 0.83 0.84
DBN1 0.83 0.81
TSKU 0.83 0.89
Top 10 negatively co-expressed genes
Gene Pearson'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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0005509 calcium ion binding IEA -
GO:0005515 protein binding 新闻学会 17353931
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0031175 neurite development IEA neuron, axon, neurite, dendrite (GO term level: 10) -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005743 mitochondrial inner membrane IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
LIU CMYB TARGETS UP 165 106 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
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234 147 All SZGR 2.0 genes in this pathway
VANHARANTA UTERINE FIBROID DN 67 45 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
LUCAS HNF4A TARGETS UP 58 36 All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355 243 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2B 392 251 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS LUMINAL 326 213 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330 217 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
DAIRKEE TERT TARGETS DN 124 79 All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP 344 180 All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411 249 All SZGR 2.0 genes in this pathway
LE EGR2 TARGETS DN 108 84 All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882 572 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS DN 74 55 All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP 262 186 All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419 273 All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566 371 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528 324 All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220 147 All SZGR 2.0 genes in this pathway
RIGGI EWING SARCOMA PROGENITOR UP 430 288 All SZGR 2.0 genes in this pathway
RAY TUMORIGENESIS BY ERBB2 CDC25A DN 159 105 All SZGR 2.0 genes in this pathway
MOOTHA PGC 420 269 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR UP 221 150 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR UP 293 203 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS UP 108 78 All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395 249 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069 729 All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 6 75 48 All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR DN 91 56 All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505 328 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080 713 All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403 240 All SZGR 2.0 genes in this pathway
WANG MLL TARGETS 289 188 All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725 838 All SZGR 2.0 genes in this pathway