AutismKB 2.0

Annotation Detail for PAX4


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Basic Information Top
Gene Symbol:PAX4 ( KPD,MGC129960,MODY9 )
Gene Full Name: paired box 4
Band: 7q32.1
Quick LinksEntrez ID:5078; OMIM: 167413; Uniprot ID:PAX4_HUMAN; ENSEMBL ID: ENSG00000106331; HGNC ID: 8618
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207867_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.4
Adipocyte5.55
AdrenalCortex6.5
Adrenalgland4.9
Amygdala5.8
Appendix6.75
AtrioventricularNode4.9
BDCA4+_DentriticCells5.9
Bonemarrow5.9
BronchialEpithelialCells5.45
CD105+_Endothelial5.6
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid6.95
CD34+6.7
CD4+_Tcells5.8
CD56+_NKCells6.3
CD71+_EarlyErythroid5.35
CD8+_Tcells5.1
CardiacMyocytes8.25
Caudatenucleus5.05
Cerebellum4.6
CerebellumPeduncles6.8
CiliaryGanglion4.4
CingulateCortex5.85
Colorectaladenocarcinoma5.65
DorsalRootGanglion5.1
FetalThyroid5.5
Fetalbrain5.4
Fetalliver4.95
Fetallung4.4
GlobusPallidus4.25
Heart8.1
Hypothalamus6
Kidney4.85
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.45
Liver7.9
Lung6.1
Lymphnode4.75
Lymphoma_burkitts(Daudi)7.4
Lymphoma_burkitts(Raji)8.2
MedullaOblongata5.1
OccipitalLobe5
OlfactoryBulb4.4
Ovary3.9
Pancreas4.6
PancreaticIslet6.05
ParietalLobe6.2
Pituitary6.55
Placenta5.55
Pons5.8
PrefrontalCortex6.9
Prostate6.45
Salivarygland4.65
SkeletalMuscle7.4
Skin4.75
SmoothMuscle6.3
Spinalcord5.95
SubthalamicNucleus5.55
SuperiorCervicalGanglion10.15
TemporalLobe5.35
Testis4.8
TestisGermCell4.55
TestisIntersitial4.8
TestisLeydigCell5.7
TestisSeminiferousTubule4.8
Thalamus5.8
Thymus4.3
Thyroid6.95
Tongue5.9
Tonsil5.55
Trachea4.7
TrigeminalGanglion7.45
Uterus4.55
UterusCorpus5.45
WholeBlood6.1
Wholebrain4.6
colon5.65
pineal_day6.86
pineal_night6.8
retina6.9
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13497_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
Amygdala2.05 ± 1.11
Basal Forebrain1.49 ± 0.19
Basal Part of Pons1.44 ± 0.61
Cerebellar Cortex1.4 ± 0.63
Cerebellar Nuclei2.01 ± 0.8
Claustrum2.43 ± 0.81
Epithalamus1.36 ± 0.81
Frontal Lobe1.49 ± 0.84
Globus Pallidus2.06 ± 0.76
Hypothalamus1.75 ± 0.74
Insula1.4 ± 0.52
Limbic Lobe1.58 ± 0.66
Mesencephalon1.69 ± 0.8
Myelencephalon1.71 ± 0.69
Occipital Lobe1.75 ± 0.76
Parietal Lobe1.66 ± 0.72
Pontine Tegmentum1.63 ± 0.77
Striatum1.81 ± 0.8
Subthalamus1.63 ± 0.62
Temporal Lobe1.51 ± 0.67
Thalamus1.61 ± 0.67
White Matter2 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pax4CBCerebellum9.46
9.41
Pax4CTXCerebral cortex15.13
9.99
Pax4HIPHippocampal region8.69
7
Pax4HPFHippocampal formation9.12
6.74
Pax4HYHypothalamus4.57
3.24
Pax4LSXLateral septal complex0.72
0.49
Pax4MBMidbrain3.92
3.46
Pax4MYMedulla9.44
8.23
Pax4OLFOlfactory bulb12.27
8.97
Pax4PPons5.35
4.77
Pax4PALPallidum5.21
3.72
Pax4RHPRetrohippocampal region10.46
6.74
Pax4sAMYStriatum-like amygdalar nuclei4.47
2.75
Pax4STRStriatum3.52
2.29
Pax4STRdStriatum dorsal region4.02
2.59
Pax4STRvStriatum ventral region2.46
1.74
Pax4THThalamus8.91
8.04
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