AutismKB 2.0

Annotation Detail for POU3F4


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Basic Information Top
Gene Symbol:POU3F4 ( BRAIN-4,BRN4,DFN3,DFNX2,OTF9 )
Gene Full Name: POU class 3 homeobox 4
Band: Xq21.1
Quick LinksEntrez ID:5456; OMIM: 300039; Uniprot ID:PO3F4_HUMAN; ENSEMBL ID: ENSG00000196767; HGNC ID: 9217
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 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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 tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal2 / 33603070 
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 tumor0 / 1251910 
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 
bone0 / 716550 
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207694_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.75
AdrenalCortex6.1
Adrenalgland4.15
Amygdala4.95
Appendix4.95
AtrioventricularNode4.5
BDCA4+_DentriticCells5.25
Bonemarrow4.8
BronchialEpithelialCells4.7
CD105+_Endothelial4.9
CD14+_Monocytes5.15
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.75
CD34+6.05
CD4+_Tcells5.15
CD56+_NKCells5.7
CD71+_EarlyErythroid4.55
CD8+_Tcells4.55
CardiacMyocytes6.3
Caudatenucleus4.25
Cerebellum3.9
CerebellumPeduncles5.6
CiliaryGanglion4.75
CingulateCortex5
Colorectaladenocarcinoma4.85
DorsalRootGanglion4.4
FetalThyroid4.75
Fetalbrain4.75
Fetalliver4.2
Fetallung3.85
GlobusPallidus3.6
Heart6.3
Hypothalamus5.2
Kidney4
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.9
Liver6.45
Lung5.3
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.15
Lymphoma_burkitts(Raji)7
MedullaOblongata4.4
OccipitalLobe4.35
OlfactoryBulb3.8
Ovary3.3
Pancreas3.95
PancreaticIslet5.2
ParietalLobe5.15
Pituitary5.65
Placenta4.9
Pons4.7
PrefrontalCortex6
Prostate5.65
Salivarygland4.4
SkeletalMuscle6.4
Skin4.8
SmoothMuscle5.4
Spinalcord5.15
SubthalamicNucleus4.4
SuperiorCervicalGanglion5.9
TemporalLobe4.4
Testis4.1
TestisGermCell4.1
TestisIntersitial4.05
TestisLeydigCell4.8
TestisSeminiferousTubule4.15
Thalamus5
Thymus3.8
Thyroid6.05
Tongue4.9
Tonsil4.7
Trachea4.05
TrigeminalGanglion5.5
Uterus3.95
UterusCorpus4.5
WholeBlood5.15
Wholebrain3.95
colon4.85
pineal_day5.98
pineal_night5.8
retina5.8
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11813_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
Amygdala2.59 ± 1
Basal Forebrain2.52 ± 1
Basal Part of Pons1.65 ± 0.57
Cerebellar Cortex1.6 ± 0.42
Cerebellar Nuclei2.41 ± 0.81
Claustrum2.69 ± 0.68
Epithalamus2.4 ± 0.75
Frontal Lobe2.07 ± 0.8
Globus Pallidus2.86 ± 0.73
Hypothalamus2.5 ± 0.98
Insula2.2 ± 0.79
Limbic Lobe1.87 ± 0.84
Mesencephalon2.46 ± 0.91
Myelencephalon2.3 ± 0.79
Occipital Lobe2.42 ± 0.86
Parietal Lobe2.24 ± 0.86
Pontine Tegmentum2.43 ± 0.85
Striatum4.19 ± 0.56
Subthalamus3.13 ± 0.21
Temporal Lobe2.01 ± 0.71
Thalamus2.4 ± 0.69
White Matter2.04 ± 0.34
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