AutismKB 2.0

Annotation Detail for PITX2


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Basic Information Top
Gene Symbol:PITX2 ( ARP1,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,MGC111022,MGC20144,Otlx2,PTX2,RGS,RIEG,RIEG1,RS )
Gene Full Name: paired-like homeodomain 2
Band: 4q25
Quick LinksEntrez ID:5308; OMIM: 601542; Uniprot ID:PITX2_HUMAN; ENSEMBL ID: ENSG00000164093; HGNC ID: 9005
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 body2 / 7076128
blastocyst3 / 6231948
fetus6 / 56401210
neonate2 / 3109764
infant2 / 2362084
juvenile0 / 555560 
adult73 / 193912137
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
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 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain2 / 11009891
cervix6 / 48171124
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus2 / 2020998
eye20 / 21105494
heart1 / 8962611
intestine4 / 23447217
kidney1 / 2117774
larynx0 / 241450 
liver3 / 20774314
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth7 / 67052104
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta44 / 280825156
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207558_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.95
Adipocyte13.4
AdrenalCortex24.55
Adrenalgland13.85
Amygdala10.65
Appendix25.3
AtrioventricularNode24.05
BDCA4+_DentriticCells12.35
Bonemarrow16.85
BronchialEpithelialCells14.2
CD105+_Endothelial14.4
CD14+_Monocytes15.8
CD19+_BCells(neg._sel.)15.25
CD33+_Myeloid17.65
CD34+15.2
CD4+_Tcells14.95
CD56+_NKCells13.95
CD71+_EarlyErythroid14.3
CD8+_Tcells12.45
CardiacMyocytes36.4
Caudatenucleus12.5
Cerebellum12.15
CerebellumPeduncles18.6
CiliaryGanglion19.45
CingulateCortex15.85
Colorectaladenocarcinoma14.85
DorsalRootGanglion16.5
FetalThyroid15.1
Fetalbrain14.5
Fetalliver13.2
Fetallung11.25
GlobusPallidus12.3
Heart29.6
Hypothalamus14.25
Kidney14.85
Leukemia_chronicMyelogenousK-56213
Leukemia_promyelocytic-HL-6013.25
Leukemialymphoblastic(MOLT-4)11.6
Liver23.6
Lung14.65
Lymphnode11.6
Lymphoma_burkitts(Daudi)20.55
Lymphoma_burkitts(Raji)24.05
MedullaOblongata11.65
OccipitalLobe12.6
OlfactoryBulb11.5
Ovary13.85
Pancreas13.75
PancreaticIslet17.15
ParietalLobe18.3
Pituitary36.45
Placenta35.1
Pons15.35
PrefrontalCortex14.75
Prostate15.7
Salivarygland13
SkeletalMuscle37.95
Skin20.65
SmoothMuscle17.35
Spinalcord14.7
SubthalamicNucleus15.55
SuperiorCervicalGanglion32.4
TemporalLobe14.6
Testis12
TestisGermCell11.7
TestisIntersitial14
TestisLeydigCell16.5
TestisSeminiferousTubule12.65
Thalamus15.55
Thymus9.7
Thyroid15.85
Tongue36.9
Tonsil15.4
Trachea12.35
TrigeminalGanglion24.4
Uterus10.85
UterusCorpus19.4
WholeBlood13.95
Wholebrain10.75
colon18.45
pineal_day16.3
pineal_night15.38
retina307.7
small_intestine24.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15887_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
Amygdala2.81 ± 1.03
Basal Forebrain2.12 ± 0.21
Basal Part of Pons2.14 ± 0.49
Cerebellar Cortex2.18 ± 0.74
Cerebellar Nuclei2.7 ± 0.7
Claustrum3.01 ± 0.81
Epithalamus2 ± 0.75
Frontal Lobe2.2 ± 0.71
Globus Pallidus2.73 ± 0.56
Hypothalamus2.14 ± 0.61
Insula1.9 ± 0.52
Limbic Lobe2.4 ± 0.76
Mesencephalon2.48 ± 0.72
Myelencephalon2.29 ± 0.71
Occipital Lobe2.46 ± 0.86
Parietal Lobe2.42 ± 0.82
Pontine Tegmentum2.32 ± 0.74
Striatum2.24 ± 0.59
Subthalamus2.44 ± 0.68
Temporal Lobe2.25 ± 0.67
Thalamus2.26 ± 0.6
White Matter2.37 ± 0.27
Mouse Brain ISH
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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