AutismKB 2.0

Annotation Detail for PITX1


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Basic Information Top
Gene Symbol:PITX1 ( BFT,CCF,POTX,PTX1 )
Gene Full Name: paired-like homeodomain 1
Band: 5q31.1
Quick LinksEntrez ID:5307; OMIM: 602149; Uniprot ID:PITX1_HUMAN; ENSEMBL ID: ENSG00000069011; HGNC ID: 9004
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 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult68 / 193912135
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) tumor4 / 9417842
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor6 / 11424652
esophageal tumor3 / 17290173
gastrointestinal tumor9 / 11936975
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor10 / 10312796
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal55 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
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 
ascites6 / 40015149
bladder0 / 297570 
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain10 / 11009899
cervix11 / 48171228
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus3 / 20209148
eye11 / 21105452
heart1 / 8962611
intestine13 / 23447255
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung29 / 33697486
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland5 / 16585301
placenta7 / 28082524
prostate12 / 18934563
salivary gland3 / 20155148
skin2 / 2105749
spleen0 / 539520 
stomach4 / 9661941
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209587_at
Cell line Expression level Expression bar
721_B_lymphoblasts5
Adipocyte4
AdrenalCortex4.35
Adrenalgland3.4
Amygdala4.2
Appendix4.05
AtrioventricularNode3.05
BDCA4+_DentriticCells4.45
Bonemarrow3.95
BronchialEpithelialCells3.95
CD105+_Endothelial4.05
CD14+_Monocytes4.3
CD19+_BCells(neg._sel.)4.35
CD33+_Myeloid5.1
CD34+5.05
CD4+_Tcells4.35
CD56+_NKCells4.8
CD71+_EarlyErythroid3.75
CD8+_Tcells3.9
CardiacMyocytes5.1
Caudatenucleus3.65
Cerebellum3.25
CerebellumPeduncles4.65
CiliaryGanglion2.8
CingulateCortex4.15
Colorectaladenocarcinoma4.05
DorsalRootGanglion3.1
FetalThyroid3.9
Fetalbrain4
Fetalliver3.45
Fetallung3.3
GlobusPallidus2.95
Heart5.3
Hypothalamus4.35
Kidney3.25
Leukemia_chronicMyelogenousK-5627.9
Leukemia_promyelocytic-HL-603.55
Leukemialymphoblastic(MOLT-4)3.25
Liver5.4
Lung4.45
Lymphnode3.45
Lymphoma_burkitts(Daudi)5.3
Lymphoma_burkitts(Raji)5.7
MedullaOblongata3.7
OccipitalLobe3.6
OlfactoryBulb3.2
Ovary2.65
Pancreas3.25
PancreaticIslet4.3
ParietalLobe4.4
Pituitary4.75
Placenta4.1
Pons3.8
PrefrontalCortex5
Prostate4.7
Salivarygland3.25
SkeletalMuscle4.9
Skin3.05
SmoothMuscle4.55
Spinalcord4.3
SubthalamicNucleus3.65
SuperiorCervicalGanglion4.6
TemporalLobe3.65
Testis3.4
TestisGermCell3.3
TestisIntersitial3.4
TestisLeydigCell4
TestisSeminiferousTubule3.45
Thalamus4.1
Thymus3.15
Thyroid5.05
Tongue6.5
Tonsil4.2
Trachea3.4
TrigeminalGanglion4.1
Uterus3.3
UterusCorpus3.65
WholeBlood4.4
Wholebrain3.4
colon4.05
pineal_day5.02
pineal_night4.9
retina4.9
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11078_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
Amygdala2.13 ± 1.11
Basal Forebrain1.5 ± 0.22
Basal Part of Pons1.32 ± 0.34
Cerebellar Cortex1.59 ± 0.87
Cerebellar Nuclei1.96 ± 0.76
Claustrum2.6 ± 0.95
Epithalamus1.49 ± 1.36
Frontal Lobe1.5 ± 0.69
Globus Pallidus2.57 ± 0.72
Hypothalamus1.69 ± 0.57
Insula1.68 ± 0.59
Limbic Lobe1.72 ± 0.75
Mesencephalon1.73 ± 0.63
Myelencephalon1.76 ± 0.73
Occipital Lobe1.9 ± 0.91
Parietal Lobe1.68 ± 0.77
Pontine Tegmentum1.78 ± 0.89
Striatum1.74 ± 0.53
Subthalamus1.83 ± 0.51
Temporal Lobe1.69 ± 0.78
Thalamus1.72 ± 0.72
White Matter2.13 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pitx1CBCerebellum50
50
Pitx1CTXCerebral cortex50
50
Pitx1HIPHippocampal region50
50
Pitx1HPFHippocampal formation50
50
Pitx1HYHypothalamus50
50
Pitx1LSXLateral septal complex50
50
Pitx1MBMidbrain50
50
Pitx1MYMedulla50
50
Pitx1OLFOlfactory bulb50
50
Pitx1PPons50
50
Pitx1PALPallidum50
50
Pitx1RHPRetrohippocampal region50
50
Pitx1sAMYStriatum-like amygdalar nuclei50
50
Pitx1STRStriatum50
50
Pitx1STRdStriatum dorsal region50
50
Pitx1STRvStriatum ventral region50
50
Pitx1THThalamus50
50
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068659 20 66 85 GPEDSGAGGTGCGGADDPAK 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