AutismKB 2.0

Annotation Detail for P4HA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:P4HA1 ( P4HA )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide I
Band: 10q22.1
Quick LinksEntrez ID:5033; OMIM: 176710; Uniprot ID:P4HA1_HUMAN; ENSEMBL ID: ENSG00000122884; HGNC ID: 8546
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 body12 / 70761169
blastocyst3 / 6231948
fetus51 / 56401290
neonate3 / 3109796
infant0 / 236200 
juvenile4 / 5555671
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma7 / 8282384
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor11 / 26384541
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal196 / 336030758
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone4 / 7165555
bone marrow5 / 48801102
brain35 / 110098931
cervix1 / 4817120
connective tissue13 / 14925587
ear3 / 16212185
embryonic tissue25 / 215722115
esophagus2 / 2020998
eye11 / 21105452
heart12 / 89626133
intestine5 / 23447221
kidney10 / 21177747
larynx3 / 24145124
liver12 / 20774357
lung17 / 33697450
lymph1 / 4427022
lymph node6 / 9161065
mammary gland2 / 15327113
mouth1 / 6705214
muscle9 / 10771583
nerve1 / 1576863
ovary4 / 10205139
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx10 / 41328241
pituitary gland0 / 165850 
placenta12 / 28082542
prostate11 / 18934558
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach6 / 9661962
testis14 / 33044242
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus9 / 23287838
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207543_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts440.1
Adipocyte82
AdrenalCortex15.25
Adrenalgland17.05
Amygdala17.75
Appendix20.35
AtrioventricularNode16.95
BDCA4+_DentriticCells140.9
Bonemarrow13.45
BronchialEpithelialCells219.15
CD105+_Endothelial17.75
CD14+_Monocytes85.25
CD19+_BCells(neg._sel.)43.55
CD33+_Myeloid78.05
CD34+47.1
CD4+_Tcells29.25
CD56+_NKCells45.4
CD71+_EarlyErythroid6.65
CD8+_Tcells30.1
CardiacMyocytes446.85
Caudatenucleus16.95
Cerebellum10.65
CerebellumPeduncles11.35
CiliaryGanglion13.8
CingulateCortex11.2
Colorectaladenocarcinoma13.35
DorsalRootGanglion18.3
FetalThyroid23.9
Fetalbrain24.05
Fetalliver23.7
Fetallung101
GlobusPallidus12
Heart7.95
Hypothalamus30.3
Kidney18.95
Leukemia_chronicMyelogenousK-56284.95
Leukemia_promyelocytic-HL-60168.35
Leukemialymphoblastic(MOLT-4)64.05
Liver30.75
Lung17.95
Lymphnode20.65
Lymphoma_burkitts(Daudi)26.85
Lymphoma_burkitts(Raji)197.3
MedullaOblongata12.1
OccipitalLobe8.6
OlfactoryBulb80
Ovary41.5
Pancreas58
PancreaticIslet58.3
ParietalLobe8.6
Pituitary25.75
Placenta30.55
Pons20.85
PrefrontalCortex19.5
Prostate38.5
Salivarygland18.45
SkeletalMuscle41
Skin14.1
SmoothMuscle930.65
Spinalcord33.1
SubthalamicNucleus14.95
SuperiorCervicalGanglion22.75
TemporalLobe15.6
Testis16.1
TestisGermCell23.15
TestisIntersitial19.9
TestisLeydigCell14.4
TestisSeminiferousTubule15.25
Thalamus11.85
Thymus12.55
Thyroid25.55
Tongue19.5
Tonsil15.1
Trachea20.75
TrigeminalGanglion23.05
Uterus37.65
UterusCorpus27.2
WholeBlood26.5
Wholebrain10.4
colon17.9
pineal_day23.64
pineal_night24.64
retina51.3
small_intestine21.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10536_PI416261804
  • 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
Amygdala3.91 ± 0.55
Basal Forebrain3.49 ± 0.49
Basal Part of Pons3.36 ± 0.63
Cerebellar Cortex3.79 ± 0.38
Cerebellar Nuclei3.97 ± 0.48
Claustrum3.65 ± 0.65
Epithalamus4.41 ± 0.63
Frontal Lobe3.64 ± 0.53
Globus Pallidus4.82 ± 0.47
Hypothalamus3.87 ± 0.67
Insula3.64 ± 0.49
Limbic Lobe3.68 ± 0.53
Mesencephalon3.87 ± 0.61
Myelencephalon3.8 ± 0.55
Occipital Lobe3.76 ± 0.54
Parietal Lobe3.83 ± 0.5
Pontine Tegmentum4.04 ± 0.44
Striatum4.01 ± 0.48
Subthalamus3.53 ± 0.08
Temporal Lobe3.7 ± 0.56
Thalamus4.01 ± 0.46
White Matter4.57 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
P4ha1CBCerebellum14.51
16.32
P4ha1CTXCerebral cortex93.3
72.09
P4ha1HIPHippocampal region56.25
91.72
P4ha1HPFHippocampal formation58.47
74.5
P4ha1HYHypothalamus24.67
19.5
P4ha1LSXLateral septal complex41.44
32.09
P4ha1MBMidbrain15.07
13
P4ha1MYMedulla16.59
17.33
P4ha1OLFOlfactory bulb56.99
48.64
P4ha1PPons14.67
13.68
P4ha1PALPallidum22.08
18.5
P4ha1RHPRetrohippocampal region62.72
52.16
P4ha1sAMYStriatum-like amygdalar nuclei37.01
26.72
P4ha1STRStriatum91.01
75.5
P4ha1STRdStriatum dorsal region100
100
P4ha1STRvStriatum ventral region60.72
43.6
P4ha1THThalamus32.33
26.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
P4HA1_HUMAN_247 8 247 254 YFEYIMAK PRIDE
P4HA1_HUMAN_276 10 276 285 GVAVDYLPER PRIDE
P4HA1_HUMAN_339 20 339 358 FHDIISDAEIEIVKDLAKPR PRIDE
PAp00003217 11 500 510 HAACPVLVGNK Peptide Atlas

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