AutismKB 2.0

Annotation Detail for PAX6


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Basic Information Top
Gene Symbol:PAX6 ( AN,AN2,D11S812E,MGC17209,MGDA,WAGR )
Gene Full Name: paired box 6
Band: 11p13
Quick LinksEntrez ID:5080; OMIM: 607108; Uniprot ID:PAX6_HUMAN; ENSEMBL ID: ENSG00000007372; HGNC ID: 8620
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 
fetus20 / 56401235
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult82 / 193912142
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor11 / 26384541
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia20 / 97250205
normal167 / 336030749
ovarian tumor0 / 766820 
pancreatic tumor17 / 104616162
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye59 / 211054279
heart0 / 896260 
intestine10 / 23447242
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas67 / 214812311
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205646_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.85
Adipocyte6.95
AdrenalCortex7.55
Adrenalgland5.8
Amygdala17
Appendix6.9
AtrioventricularNode5.9
BDCA4+_DentriticCells5.25
Bonemarrow6.75
BronchialEpithelialCells5.95
CD105+_Endothelial5.8
CD14+_Monocytes6.05
CD19+_BCells(neg._sel.)5
CD33+_Myeloid8.55
CD34+7.55
CD4+_Tcells5.4
CD56+_NKCells7.8
CD71+_EarlyErythroid6.35
CD8+_Tcells5.05
CardiacMyocytes8.4
Caudatenucleus8.05
Cerebellum212.2
CerebellumPeduncles429.4
CiliaryGanglion4.8
CingulateCortex7.15
Colorectaladenocarcinoma21.75
DorsalRootGanglion5.1
FetalThyroid6.6
Fetalbrain9.8
Fetalliver6
Fetallung5
GlobusPallidus10.55
Heart8.1
Hypothalamus10.1
Kidney5.5
Leukemia_chronicMyelogenousK-5627.1
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)57.75
Liver9
Lung7.05
Lymphnode5.7
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)9.45
MedullaOblongata15.5
OccipitalLobe22.75
OlfactoryBulb6.9
Ovary4.55
Pancreas5.45
PancreaticIslet569.1
ParietalLobe18.95
Pituitary14.35
Placenta5.85
Pons7.1
PrefrontalCortex89.3
Prostate6.65
Salivarygland5.5
SkeletalMuscle23.85
Skin5.15
SmoothMuscle6.7
Spinalcord10.65
SubthalamicNucleus9.65
SuperiorCervicalGanglion8.55
TemporalLobe12.75
Testis5.2
TestisGermCell6
TestisIntersitial5.6
TestisLeydigCell6.55
TestisSeminiferousTubule6
Thalamus7
Thymus4.4
Thyroid7.2
Tongue6.75
Tonsil6.45
Trachea4.85
TrigeminalGanglion6.7
Uterus5.1
UterusCorpus12.9
WholeBlood7.6
Wholebrain14
colon6
pineal_day315.02
pineal_night391.4
retina645.375
small_intestine6.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P1823
  • 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
Amygdala6.58 ± 0.46
Basal Forebrain6.73 ± 0.39
Basal Part of Pons7.01 ± 0.33
Cerebellar Cortex6.89 ± 0.47
Cerebellar Nuclei4.99 ± 0.62
Claustrum6.1 ± 0.85
Epithalamus6.5 ± 0.73
Frontal Lobe5.97 ± 0.66
Globus Pallidus6.18 ± 0.78
Hypothalamus5.76 ± 0.86
Insula6 ± 0.73
Limbic Lobe6.26 ± 0.69
Mesencephalon5.96 ± 0.74
Myelencephalon6.14 ± 0.7
Occipital Lobe5.88 ± 0.55
Parietal Lobe5.99 ± 0.73
Pontine Tegmentum5.66 ± 0.62
Striatum6.25 ± 0.85
Subthalamus5.81 ± 1.04
Temporal Lobe5.88 ± 0.62
Thalamus5.71 ± 0.49
White Matter4.71 ± 0.67
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pax6CBCerebellum11.54
7.17
Pax6CTXCerebral cortex0.6
0.6
Pax6HIPHippocampal region1.15
1.71
Pax6HPFHippocampal formation0.7
1.05
Pax6HYHypothalamus3.39
2.91
Pax6LSXLateral septal complex1.82
1.14
Pax6MBMidbrain0.67
0.84
Pax6MYMedulla0.82
0.68
Pax6OLFOlfactory bulb7.06
4.6
Pax6PPons1.58
1.85
Pax6PALPallidum0.97
0.75
Pax6RHPRetrohippocampal region0.21
0.45
Pax6sAMYStriatum-like amygdalar nuclei3.69
2.6
Pax6STRStriatum1.33
1.04
Pax6STRdStriatum dorsal region0.88
0.75
Pax6STRvStriatum ventral region0.97
0.73
Pax6THThalamus2.3
2.12
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


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