Gene Page: EXPH5

Summary ?
GeneID23086
SymbolEXPH5
SynonymsSLAC2-B|SLAC2B
Descriptionexophilin 5
ReferenceMIM:612878|HGNC:HGNC:30578|Ensembl:ENSG00000110723|HPRD:08341|Vega:OTTHUMG00000166536
Gene typeprotein-coding
Map location11q22.3
Pascal p-value0.079
Fetal beta-1.393
DMG1 (# studies)
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
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). 1
GSMA_IGenome scan meta-analysisPsr: 0.006 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg1698800811108463728EXPH52.341E-4-0.1610.037DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17572651chr1218943612EXPH5230860trans
rs16829545chr2151977407EXPH5230868.41E-23trans
rs3845734chr2171125572EXPH5230860.01trans
rs7584986chr2184111432EXPH5230865.761E-10trans
rs9810143chr35060209EXPH5230860.03trans
rs16860529chr3185900368EXPH5230860.18trans
rs363082chr43132712EXPH5230860.09trans
snp_a-18157710EXPH5230860.04trans
rs335980chr4173329784EXPH5230860.16trans
rs17762315chr576807576EXPH5230860.16trans
rs10491487chr580323367EXPH5230860.2trans
rs11738579chr595119841EXPH5230860.14trans
rs133604960EXPH5230860.15trans
rs13191953chr624151042EXPH5230860.11trans
rs12196880chr624313746EXPH5230860.05trans
rs10806988chr624341768EXPH5230860.11trans
rs16890367chr638078448EXPH5230860.05trans
rs1929769chr640765977EXPH5230860.15trans
rs3118341chr925185518EXPH5230860.07trans
rs9406868chr925223372EXPH5230860.09trans
rs11139334chr984209393EXPH5230864.214E-4trans
rs3765543chr9134458323EXPH5230860.05trans
rs2393316chr1059333070EXPH5230860trans
rs9989228chr1437809252EXPH5230860.19trans
rs16955618chr1529937543EXPH5230865.848E-34trans
rs2077735chr1558479024EXPH5230860.09trans
rs12914345chr1577670400EXPH5230860.19trans
rs11873184chr181584081EXPH5230860.05trans
rs17761686chr1856647634EXPH5230860.09trans
rs7274477chr201676942EXPH5230860.08trans
rs1041786chr2122617710EXPH5230865.048E-5trans
rs16990575chrX32691327EXPH5230860.17trans

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
SRGAP10.940.92
ZBED40.930.96
NHSL10.930.85
IL17RD0.930.94
ZNF4620.920.94
ASXL30.920.91
FRMD4B0.920.84
BEND30.920.93
MYST40.920.96
BCL7A0.920.93
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
FBXO2-0.66-0.68
LHPP-0.65-0.59
AIFM3-0.65-0.76
C5orf53-0.65-0.79
HLA-F-0.65-0.76
ALDOC-0.65-0.72
ACOT13-0.64-0.76
LDHD-0.64-0.67
TSC22D4-0.63-0.78
CLU-0.63-0.68

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
GO:0017137Rab GTPase bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006886intracellular protein transportIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
DAVICIONI TARGETS OF PAX FOXO1 FUSIONS DN 6849All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258141All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS UP 13582All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230115All SZGR 2.0 genes in this pathway
WATTEL AUTONOMOUS THYROID ADENOMA UP 7347All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
FERREIRA EWINGS SARCOMA UNSTABLE VS STABLE DN 9859All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464276All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412249All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 16HR UP 225139All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434302All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G6 153112All SZGR 2.0 genes in this pathway
LEIN CEREBELLUM MARKERS 8547All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN 940425All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM UP 4730All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G123 DN 5130All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS CTNNB1 UP 176110All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS INTERFERON DN 5230All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422277All SZGR 2.0 genes in this pathway
MIKKELSEN MEF ICP WITH H3K27ME3 206108All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
ACOSTA PROLIFERATION INDEPENDENT MYC TARGETS UP 8451All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745475All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway