Gene Page: PKHD1

Summary ?
GeneID5314
SymbolPKHD1
SynonymsARPKD|FCYT|TIGM1
Descriptionpolycystic kidney and hepatic disease 1 (autosomal recessive)
ReferenceMIM:606702|HGNC:HGNC:9016|Ensembl:ENSG00000170927|HPRD:05987|Vega:OTTHUMG00000014841
Gene typeprotein-coding
Map location6p12.2
Pascal p-value0.29
Fetal beta0.413

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.
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.04433 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation


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
GFAP0.800.82
PRODH0.770.80
ALDH6A10.770.82
EFEMP10.760.81
METTL7A0.760.82
TMBIM10.760.83
AGXT2L10.760.81
THBS40.750.80
ALDH1L10.750.79
NTSR20.740.80
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
NKIRAS2-0.46-0.56
CRMP1-0.46-0.59
HN1-0.45-0.62
PHF14-0.45-0.63
STMN2-0.45-0.62
STMN1-0.45-0.63
MLLT11-0.45-0.60
BZW2-0.45-0.64
ZNF821-0.45-0.57
NR2C2AP-0.44-0.65

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004872receptor activityNAS11919560 
GO:0005515protein bindingIPI16243292 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001822kidney developmentIEA-
GO:0016337cell-cell adhesionISS-
GO:0042592homeostatic processNAS11919560 
GO:0051271negative regulation of cell motionISS-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0005932basal bodyIDA14983006 
GO:0016324apical plasma membraneIDA16243292 
GO:0031362anchored to external side of plasma membraneTAS11919560 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER DN 185115All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW DN 165107All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180110All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA DN 181107All SZGR 2.0 genes in this pathway
CERVERA SDHB TARGETS 2 11476All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K9ME3 UP 14175All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP 491316All SZGR 2.0 genes in this pathway
SERVITJA ISLET HNF1A TARGETS DN 10971All SZGR 2.0 genes in this pathway
SERVITJA LIVER HNF1A TARGETS DN 157105All SZGR 2.0 genes in this pathway