Summary ?
GeneID5053
SymbolPAH
SynonymsPH|PKU|PKU1
Descriptionphenylalanine hydroxylase
ReferenceMIM:612349|HGNC:HGNC:8582|Ensembl:ENSG00000171759|HPRD:08943|Vega:OTTHUMG00000169966
Gene typeprotein-coding
Map location12q23.2
Pascal p-value0.071
Fetal beta-2.927
eGeneCerebellar Hemisphere
Cortex
Frontal Cortex BA9
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
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,schizophrenic,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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005506iron ion bindingIEA-
GO:0004497monooxygenase activityIEA-
GO:0004505phenylalanine 4-monooxygenase activityTAS3856322 
GO:0016597amino acid bindingIEA-
GO:0046872metal ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0009072aromatic amino acid family metabolic processIEA-
GO:0008652amino acid biosynthetic processTAS3856322 
GO:0006559L-phenylalanine catabolic processIEA-
GO:0055114oxidation reductionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PHENYLALANINE METABOLISM 1812All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200136All SZGR 2.0 genes in this pathway
DIERICK SEROTONIN FUNCTION GENES 66All SZGR 2.0 genes in this pathway
CERVERA SDHB TARGETS 2 11476All SZGR 2.0 genes in this pathway
LEE LIVER CANCER CIPROFIBRATE DN 6643All SZGR 2.0 genes in this pathway
LEE LIVER CANCER ACOX1 DN 6539All SZGR 2.0 genes in this pathway
IIZUKA LIVER CANCER PROGRESSION G2 G3 UP 2814All SZGR 2.0 genes in this pathway
LEE LIVER CANCER DENA DN 7445All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
GRANDVAUX IRF3 TARGETS DN 1914All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390242All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202115All SZGR 2.0 genes in this pathway
MOLENAAR TARGETS OF CCND1 AND CDK4 UP 6748All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE UP 9761All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL CARCINOMA VS ADENOMA DN 2418All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL UP 185112All SZGR 2.0 genes in this pathway
WOO LIVER CANCER RECURRENCE DN 8054All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266180All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway
SERVITJA LIVER HNF1A TARGETS DN 157105All SZGR 2.0 genes in this pathway