AutismKB 2.0

Annotation Detail for POU2F1


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Basic Information Top
Gene Symbol:POU2F1 ( OCT1,OTF1 )
Gene Full Name: POU class 2 homeobox 1
Band: 1q24.2
Quick LinksEntrez ID:5451; OMIM: 164175; Uniprot ID:PO2F1_HUMAN; ENSEMBL ID: ENSG00000143190; HGNC ID: 9212
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
blastocyst5 / 6231980
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal68 / 336030720
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
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 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain18 / 110098916
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye13 / 21105461
heart0 / 896260 
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung5 / 33697414
lymph1 / 4427022
lymph node4 / 9161043
mammary gland1 / 1532716
mouth4 / 6705259
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea3 / 5241357
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206789_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.15
Adipocyte6.05
AdrenalCortex6.45
Adrenalgland5.2
Amygdala6.45
Appendix6.2
AtrioventricularNode4.95
BDCA4+_DentriticCells7.55
Bonemarrow6.45
BronchialEpithelialCells6.15
CD105+_Endothelial6.3
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)10.6
CD33+_Myeloid7.9
CD34+13.8
CD4+_Tcells6.85
CD56+_NKCells7.2
CD71+_EarlyErythroid5.8
CD8+_Tcells6.15
CardiacMyocytes7.9
Caudatenucleus5.5
Cerebellum5.1
CerebellumPeduncles7
CiliaryGanglion4.5
CingulateCortex6.5
Colorectaladenocarcinoma6.2
DorsalRootGanglion4.7
FetalThyroid6.1
Fetalbrain6.1
Fetalliver5.55
Fetallung5.1
GlobusPallidus4.45
Heart7.75
Hypothalamus6.65
Kidney4.9
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-605.45
Leukemialymphoblastic(MOLT-4)4.95
Liver8.1
Lung6.95
Lymphnode5.35
Lymphoma_burkitts(Daudi)7.9
Lymphoma_burkitts(Raji)8.8
MedullaOblongata5.65
OccipitalLobe5.6
OlfactoryBulb4.95
Ovary4.1
Pancreas4.95
PancreaticIslet6.8
ParietalLobe6.45
Pituitary7.3
Placenta6.6
Pons6.1
PrefrontalCortex19.85
Prostate9.6
Salivarygland4.95
SkeletalMuscle7.2
Skin4.95
SmoothMuscle7
Spinalcord6.6
SubthalamicNucleus5.6
SuperiorCervicalGanglion8
TemporalLobe5.65
Testis5.4
TestisGermCell6.35
TestisIntersitial5.2
TestisLeydigCell6.3
TestisSeminiferousTubule5.35
Thalamus6.2
Thymus4.95
Thyroid7.65
Tongue6.05
Tonsil6.05
Trachea5.2
TrigeminalGanglion6.1
Uterus5.3
UterusCorpus5.5
WholeBlood6.9
Wholebrain5.2
colon6.25
pineal_day8.08
pineal_night7.64
retina8.1
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P927182
  • 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
Amygdala3.57 ± 0.94
Basal Forebrain3.66 ± 0.35
Basal Part of Pons3.15 ± 0.58
Cerebellar Cortex4.12 ± 0.32
Cerebellar Nuclei3.32 ± 0.64
Claustrum3.68 ± 0.74
Epithalamus3.67 ± 0.36
Frontal Lobe3.17 ± 0.7
Globus Pallidus3.39 ± 0.7
Hypothalamus3.18 ± 0.62
Insula3.19 ± 0.68
Limbic Lobe3.3 ± 0.64
Mesencephalon3.58 ± 0.74
Myelencephalon3.37 ± 0.73
Occipital Lobe4 ± 0.69
Parietal Lobe3.42 ± 0.65
Pontine Tegmentum3.48 ± 0.72
Striatum3.26 ± 0.78
Subthalamus3.39 ± 0.78
Temporal Lobe3.28 ± 0.83
Thalamus3.51 ± 0.62
White Matter4.5 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pou2f1CBCerebellum52.68
40.47
Pou2f1CTXCerebral cortex13.1
9
Pou2f1HIPHippocampal region21.4
9.47
Pou2f1HPFHippocampal formation19.18
10.89
Pou2f1HYHypothalamus5.73
3.25
Pou2f1LSXLateral septal complex8.29
4.75
Pou2f1MBMidbrain3.9
3.84
Pou2f1MYMedulla10.1
8.18
Pou2f1OLFOlfactory bulb39.37
21.95
Pou2f1PPons10.87
9.08
Pou2f1PALPallidum3.47
2.57
Pou2f1RHPRetrohippocampal region15.13
12
Pou2f1sAMYStriatum-like amygdalar nuclei3.2
1.88
Pou2f1STRStriatum4.53
2.66
Pou2f1STRdStriatum dorsal region2.96
1.94
Pou2f1STRvStriatum ventral region8.22
4.06
Pou2f1THThalamus10.38
6.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00078890 18 255 272 TIAATPIQTLPQSQSTPK 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