Gene Page:PLEKHH1

Summary?
GeneID 57475
Symbol PLEKHH1
Synonyms -
Description pleckstrin homology, MyTH4 and FERM domain containing H1
Reference HGNC:HGNC:17733|Ensembl:ENSG00000054690|HPRD:17862|Vega:OTTHUMG00000171272
Gene type protein-coding
Map location 14q24.1
Pascal p-value 0.327
Sherlock p-value 0.561
Fetal beta -1.038
eGene Cerebellar Hemisphere
Myers' cis & trans
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
PLEKHH1 chr14 68038547 T C NM_020715 p.505F>L missense Schizophrenia DNM:Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs6448932 chr4 12595798 PLEKHH1 57475 0.11 trans
rs135853 chr22 49978452 PLEKHH1 57475 0.2 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
死神:胎儿(13 - 26 postconception周),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
MICAL1 0.94 0.93
ANO8 0.94 0.94
LPAR2 0.94 0.89
FBN3 0.94 0.89
AC145098.2 0.93 0.93
QRICH2 0.93 0.89
B4GALNT4 0.92 0.95
TAF1C 0.92 0.92
KIAA0895L 0.92 0.90
TRPV1 0.92 0.86
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
C5orf53 -0.64 -0.73
AF347015.27 -0.63 -0.79
ACOT13 -0.62 -0.70
AF347015.31 -0.62 -0.78
S100B -0.62 -0.73
HLA-F -0.62 -0.63
B2M -0.61 -0.74
ALDOC -0.61 -0.62
FAM162A -0.61 -0.68
ABCG2 -0.61 -0.65

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
CHARAFE BREAST CANCER LUMINAL VS BASAL UP 380 215 All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456 228 All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS DN 260 143 All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS DN 232 139 All SZGR 2.0 genes in this pathway
WAMUNYOKOLI OVARIAN CANCER LMP UP 265 158 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537 339 All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202 115 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011 592 All SZGR 2.0 genes in this pathway
HUANG DASATINIB RESISTANCE DN 69 44 All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR UP 229 149 All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 DN 157 106 All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS NOT VIA AKT1 UP 211 131 All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 UP 281 183 All SZGR 2.0 genes in this pathway