AutismKB 2.0

Annotation Detail for PAH


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PAH ( PH,PKU,PKU1 )
Gene Full Name: phenylalanine hydroxylase
Band: 12q23.2
Quick LinksEntrez ID:5053; OMIM: 612349; Uniprot ID:PH4H_HUMAN; ENSEMBL ID: ENSG00000171759; HGNC ID: 8582
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus45 / 56401279
neonate0 / 310970 
infant0 / 236200 
juvenile17 / 55556305
adult148 / 193912176
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor96 / 96359996
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal256 / 336030776
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine0 / 2344720 
kidney75 / 211777354
larynx0 / 241450 
liver255 / 2077431227
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis9 / 33044227
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217583_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.5
Adipocyte8.25
AdrenalCortex13.2
Adrenalgland8.6
Amygdala8
Appendix25.45
AtrioventricularNode11.5
BDCA4+_DentriticCells7.8
Bonemarrow10.35
BronchialEpithelialCells7.85
CD105+_Endothelial8.3
CD14+_Monocytes9.3
CD19+_BCells(neg._sel.)8.5
CD33+_Myeloid10.05
CD34+9.55
CD4+_Tcells7.9
CD56+_NKCells9
CD71+_EarlyErythroid8.5
CD8+_Tcells7
CardiacMyocytes12.95
Caudatenucleus7.75
Cerebellum7.25
CerebellumPeduncles11.55
CiliaryGanglion14.1
CingulateCortex9.35
Colorectaladenocarcinoma8.05
DorsalRootGanglion9.65
FetalThyroid9.2
Fetalbrain8.05
Fetalliver26.6
Fetallung6.2
GlobusPallidus7.6
Heart13.1
Hypothalamus8.35
Kidney9.5
Leukemia_chronicMyelogenousK-5627.65
Leukemia_promyelocytic-HL-607.5
Leukemialymphoblastic(MOLT-4)6.25
Liver15.35
Lung9.3
Lymphnode6.85
Lymphoma_burkitts(Daudi)11.85
Lymphoma_burkitts(Raji)14.3
MedullaOblongata11.2
OccipitalLobe7.6
OlfactoryBulb6.5
Ovary17.2
Pancreas7.6
PancreaticIslet9.4
ParietalLobe10.55
Pituitary17.7
Placenta8
Pons9.2
PrefrontalCortex9.35
Prostate9.45
Salivarygland7.7
SkeletalMuscle15.75
Skin9.85
SmoothMuscle9.6
Spinalcord8.85
SubthalamicNucleus9.25
SuperiorCervicalGanglion18.95
TemporalLobe8.85
Testis7.35
TestisGermCell6.6
TestisIntersitial7.6
TestisLeydigCell10.45
TestisSeminiferousTubule7.4
Thalamus9.3
Thymus6.1
Thyroid9.6
Tongue11.45
Tonsil8.95
Trachea7.15
TrigeminalGanglion13.1
Uterus6.45
UterusCorpus10.05
WholeBlood9.05
Wholebrain6.35
colon8.25
pineal_day10.04
pineal_night9.74
retina10.25
small_intestine7.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P926410
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala3.71 ± 0.93
Basal Forebrain3.43 ± 0.41
Basal Part of Pons3.55 ± 0.54
Cerebellar Cortex3.68 ± 0.57
Cerebellar Nuclei3.78 ± 0.53
Claustrum3.47 ± 0.68
Epithalamus4.39 ± 0.53
Frontal Lobe3.97 ± 0.59
Globus Pallidus3.49 ± 0.65
Hypothalamus3.62 ± 0.63
Insula3.9 ± 0.35
Limbic Lobe3.71 ± 0.68
Mesencephalon3.82 ± 0.78
Myelencephalon3.74 ± 0.69
Occipital Lobe3.63 ± 0.54
Parietal Lobe4.05 ± 0.58
Pontine Tegmentum3.88 ± 0.67
Striatum2.46 ± 0.85
Subthalamus3.72 ± 0.86
Temporal Lobe3.88 ± 0.5
Thalamus3.94 ± 0.58
White Matter2.36 ± 0.8
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PahCBCerebellum0.2
0.49
PahCTXCerebral cortex0.61
1.05
PahHIPHippocampal region0.15
0.24
PahHPFHippocampal formation0.14
0.22
PahHYHypothalamus1.11
1.68
PahLSXLateral septal complex0
0
PahMBMidbrain0.17
0.44
PahMYMedulla0.29
0.44
PahOLFOlfactory bulb1.09
3.24
PahPPons0.31
0.59
PahPALPallidum0.09
0.11
PahRHPRetrohippocampal region0.04
0.08
PahsAMYStriatum-like amygdalar nuclei0.34
0.56
PahSTRStriatum0.1
0.17
PahSTRdStriatum dorsal region0.03
0.04
PahSTRvStriatum ventral region0.2
0.2
PahTHThalamus0.1
0.11
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved