AutismKB 2.0

Annotation Detail for SOX9


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Basic Information Top
Gene Symbol:SOX9 ( CMD1,CMPD1,SRA1 )
Gene Full Name: SRY (sex determining region Y)-box 9
Band: 17q24.3
Quick LinksEntrez ID:6662; OMIM: 608160; Uniprot ID:SOX9_HUMAN; ENSEMBL ID: ENSG00000125398; HGNC ID: 11204
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 body3 / 7076142
blastocyst0 / 623190 
fetus39 / 56401269
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult64 / 193912133
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 tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma7 / 10688365
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal120 / 336030735
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue10 / 14925566
ear6 / 16212370
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye14 / 21105466
heart4 / 8962644
intestine19 / 23447281
kidney2 / 2117779
larynx0 / 241450 
liver7 / 20774333
lung16 / 33697447
lymph0 / 442700 
lymph node2 / 9161021
mammary gland8 / 15327152
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary2 / 10205119
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate12 / 18934563
salivary gland1 / 2015549
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis11 / 33044233
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202936_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts37.2
Adipocyte18.1
AdrenalCortex7.4
Adrenalgland7.9
Amygdala175.2
Appendix8.55
AtrioventricularNode11.15
BDCA4+_DentriticCells8.2
Bonemarrow7.05
BronchialEpithelialCells35
CD105+_Endothelial7.4
CD14+_Monocytes7.6
CD19+_BCells(neg._sel.)8.35
CD33+_Myeloid8.6
CD34+8.65
CD4+_Tcells8.3
CD56+_NKCells8.35
CD71+_EarlyErythroid6.95
CD8+_Tcells6.65
CardiacMyocytes37
Caudatenucleus92
Cerebellum61
CerebellumPeduncles32.6
CiliaryGanglion7.45
CingulateCortex78.65
Colorectaladenocarcinoma713.6
DorsalRootGanglion7.55
FetalThyroid28.8
Fetalbrain155.55
Fetalliver6.4
Fetallung6.65
GlobusPallidus15.1
Heart11.6
Hypothalamus153.65
Kidney8.65
Leukemia_chronicMyelogenousK-5625.95
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)5.45
Liver13.6
Lung8.15
Lymphnode6.05
Lymphoma_burkitts(Daudi)9.65
Lymphoma_burkitts(Raji)10.85
MedullaOblongata23.5
OccipitalLobe58.25
OlfactoryBulb48.15
Ovary5.2
Pancreas184.4
PancreaticIslet56.65
ParietalLobe21.7
Pituitary36.4
Placenta7
Pons26.95
PrefrontalCortex306.8
Prostate126.1
Salivarygland157.4
SkeletalMuscle10.8
Skin36.9
SmoothMuscle18.65
Spinalcord207.3
SubthalamicNucleus10.35
SuperiorCervicalGanglion13.2
TemporalLobe15.2
Testis303.2
TestisGermCell650.05
TestisIntersitial109.05
TestisLeydigCell70.3
TestisSeminiferousTubule167.7
Thalamus43.1
Thymus4.85
Thyroid75.35
Tongue11.55
Tonsil11.5
Trachea228.45
TrigeminalGanglion8.9
Uterus5.6
UterusCorpus8.15
WholeBlood7.4
Wholebrain136.7
colon106.8
pineal_day50.38
pineal_night24.16
retina417.35
small_intestine152.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P226525
  • 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
Amygdala6.15 ± 0.42
Basal Forebrain6.5 ± 0.25
Basal Part of Pons5.1 ± 0.4
Cerebellar Cortex5.63 ± 0.27
Cerebellar Nuclei4.73 ± 0.61
Claustrum5.47 ± 0.53
Epithalamus7.49 ± 0.63
Frontal Lobe6.08 ± 0.57
Globus Pallidus7.07 ± 0.5
Hypothalamus6.45 ± 0.36
Insula6.15 ± 0.4
Limbic Lobe6.1 ± 0.57
Mesencephalon6.32 ± 0.69
Myelencephalon6.26 ± 0.73
Occipital Lobe6.31 ± 0.53
Parietal Lobe6.17 ± 0.67
Pontine Tegmentum6.26 ± 0.49
Striatum7.1 ± 0.43
Subthalamus5.65 ± 0.44
Temporal Lobe6 ± 0.53
Thalamus6.41 ± 0.52
White Matter4.46 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sox9CBCerebellum2.79
3.36
Sox9CTXCerebral cortex0.49
0.63
Sox9HIPHippocampal region0.58
0.61
Sox9HPFHippocampal formation1.15
0.99
Sox9HYHypothalamus0.79
0.61
Sox9LSXLateral septal complex0.33
0.74
Sox9MBMidbrain0.85
0.83
Sox9MYMedulla4.02
2.54
Sox9OLFOlfactory bulb2.03
2.04
Sox9PPons1.9
1.33
Sox9PALPallidum1.27
0.83
Sox9RHPRetrohippocampal region2.01
1.52
Sox9sAMYStriatum-like amygdalar nuclei0.75
0.52
Sox9STRStriatum0.5
0.46
Sox9STRdStriatum dorsal region0.24
0.35
Sox9STRvStriatum ventral region1.35
0.64
Sox9THThalamus0.28
0.26
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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