AutismKB 2.0

Annotation Detail for SOX2


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Basic Information Top
Gene Symbol:SOX2 ( ANOP3,MCOPS3,MGC2413 )
Gene Full Name: SRY (sex determining region Y)-box 2
Band: 3q26.33
Quick LinksEntrez ID:6657; OMIM: 184429; Uniprot ID:SOX2_HUMAN; ENSEMBL ID: ENSG00000181449; HGNC ID: 11195
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 body6 / 7076184
blastocyst12 / 62319192
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult46 / 193912123
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 tumor4 / 17290231
gastrointestinal tumor5 / 11936941
germ cell tumor23 / 26384587
glioma50 / 106883467
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor16 / 103127155
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal85 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor12 / 12519195
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 
ascites3 / 4001574
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain82 / 110098974
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue27 / 215722125
esophagus4 / 20209197
eye14 / 21105466
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung40 / 336974118
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle12 / 107715111
nerve0 / 157680 
ovary6 / 10205158
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus1 / 8113112
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: 213722_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.85
Adipocyte4.6
AdrenalCortex4.9
Adrenalgland3.9
Amygdala5.4
Appendix4.65
AtrioventricularNode3.8
BDCA4+_DentriticCells5.15
Bonemarrow4.7
BronchialEpithelialCells6.1
CD105+_Endothelial4.65
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)5.1
CD33+_Myeloid5.95
CD34+5.85
CD4+_Tcells4.95
CD56+_NKCells5.55
CD71+_EarlyErythroid4.3
CD8+_Tcells4.35
CardiacMyocytes6.4
Caudatenucleus4.3
Cerebellum3.75
CerebellumPeduncles5.25
CiliaryGanglion3.45
CingulateCortex4.75
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.55
FetalThyroid4.5
Fetalbrain4.65
Fetalliver4
Fetallung3.8
GlobusPallidus3.4
Heart6.05
Hypothalamus5.05
Kidney3.75
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.75
Liver6.1
Lung5
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.95
Lymphoma_burkitts(Raji)6.65
MedullaOblongata4.2
OccipitalLobe4.05
OlfactoryBulb3.6
Ovary3.15
Pancreas3.7
PancreaticIslet4.95
ParietalLobe4.85
Pituitary5.4
Placenta4.65
Pons4.55
PrefrontalCortex5.85
Prostate5.25
Salivarygland3.7
SkeletalMuscle5.45
Skin3.65
SmoothMuscle5.2
Spinalcord4.95
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.8
TemporalLobe4.2
Testis3.95
TestisGermCell3.8
TestisIntersitial3.8
TestisLeydigCell4.6
TestisSeminiferousTubule3.95
Thalamus4.75
Thymus3.6
Thyroid5.7
Tongue4.6
Tonsil4.5
Trachea3.9
TrigeminalGanglion4.75
Uterus3.75
UterusCorpus4.1
WholeBlood5
Wholebrain3.95
colon4.7
pineal_day5.74
pineal_night5.58
retina5.575
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P379969
  • 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
Amygdala8.55 ± 0.57
Basal Forebrain9.03 ± 0.27
Basal Part of Pons7.69 ± 0.45
Cerebellar Cortex7.94 ± 0.27
Cerebellar Nuclei7.92 ± 0.49
Claustrum7.65 ± 0.83
Epithalamus9.78 ± 0.6
Frontal Lobe8.54 ± 0.63
Globus Pallidus9.75 ± 0.46
Hypothalamus8.91 ± 0.39
Insula8.49 ± 0.54
Limbic Lobe8.24 ± 0.68
Mesencephalon8.61 ± 0.69
Myelencephalon8.68 ± 0.62
Occipital Lobe8.63 ± 0.58
Parietal Lobe8.5 ± 0.59
Pontine Tegmentum8.64 ± 0.43
Striatum9.26 ± 0.38
Subthalamus7.72 ± 0.8
Temporal Lobe8.45 ± 0.47
Thalamus8.93 ± 0.56
White Matter9.34 ± 0.13
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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