AutismKB 2.0

Annotation Detail for EXT2


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Basic Information Top
Gene Symbol:EXT2 ( SOTV )
Gene Full Name: exostosin 2
Band: 11p11.2
Quick LinksEntrez ID:2132; OMIM: 608210; Uniprot ID:EXT2_HUMAN; ENSEMBL ID: ENSG00000151348; HGNC ID: 3513
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
blastocyst4 / 6231964
fetus42 / 56401274
neonate2 / 3109764
infant0 / 236200 
juvenile9 / 55556161
adult182 / 193912193
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor5 / 34366145
chondrosarcoma16 / 82823193
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor43 / 263845162
glioma12 / 106883112
head and neck tumor17 / 136302124
kidney tumor12 / 68959174
leukemia7 / 9584273
liver tumor11 / 96359114
lung tumor10 / 10312796
lymphoma3 / 7175541
non-neoplasia10 / 97250102
normal261 / 336030777
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer8 / 10268077
retinoblastoma4 / 4635686
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites3 / 4001574
bladder1 / 2975733
blood10 / 12347880
bone7 / 7165597
bone marrow12 / 48801245
brain83 / 110098975
cervix8 / 48171166
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye15 / 21105471
heart5 / 8962655
intestine18 / 23447276
kidney22 / 211777103
larynx1 / 2414541
liver13 / 20774362
lung33 / 33697497
lymph0 / 442700 
lymph node5 / 9161054
mammary gland14 / 15327191
mouth9 / 67052134
muscle4 / 10771537
nerve2 / 15768126
ovary3 / 10205129
pancreas13 / 21481260
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta35 / 280825124
prostate14 / 18934573
salivary gland1 / 2015549
skin13 / 21057461
spleen3 / 5395255
stomach7 / 9661972
testis46 / 330442139
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus13 / 23287855
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202013_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.2
Adipocyte9.7
AdrenalCortex5.5
Adrenalgland4.4
Amygdala5.4
Appendix10.7
AtrioventricularNode4
BDCA4+_DentriticCells6.5
Bonemarrow5.15
BronchialEpithelialCells23.05
CD105+_Endothelial8.1
CD14+_Monocytes7.4
CD19+_BCells(neg._sel.)5.6
CD33+_Myeloid7.25
CD34+18.85
CD4+_Tcells5.3
CD56+_NKCells14.95
CD71+_EarlyErythroid4.65
CD8+_Tcells6
CardiacMyocytes9.15
Caudatenucleus4.55
Cerebellum4.2
CerebellumPeduncles5.7
CiliaryGanglion3.5
CingulateCortex5.1
Colorectaladenocarcinoma5.15
DorsalRootGanglion3.95
FetalThyroid5.05
Fetalbrain5.25
Fetalliver6.25
Fetallung5.15
GlobusPallidus3.75
Heart7.65
Hypothalamus5.8
Kidney4.45
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)4.05
Liver6.75
Lung13.7
Lymphnode6.35
Lymphoma_burkitts(Daudi)6.3
Lymphoma_burkitts(Raji)7.4
MedullaOblongata4.7
OccipitalLobe4.45
OlfactoryBulb7.15
Ovary3.4
Pancreas4.2
PancreaticIslet5.5
ParietalLobe5.4
Pituitary9.85
Placenta36.95
Pons4.9
PrefrontalCortex6.6
Prostate6.15
Salivarygland4.7
SkeletalMuscle5.95
Skin3.85
SmoothMuscle100.9
Spinalcord5.9
SubthalamicNucleus4.6
SuperiorCervicalGanglion5.85
TemporalLobe4.55
Testis4.4
TestisGermCell4.15
TestisIntersitial4.15
TestisLeydigCell5.1
TestisSeminiferousTubule4.3
Thalamus5.25
Thymus4.75
Thyroid6.75
Tongue5.2
Tonsil4.9
Trachea4.35
TrigeminalGanglion5.05
Uterus8.9
UterusCorpus8.35
WholeBlood5.4
Wholebrain5.05
colon5.6
pineal_day6.56
pineal_night6.32
retina10.95
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16200_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
Amygdala5.68 ± 0.34
Basal Forebrain5.67 ± 0.31
Basal Part of Pons5.86 ± 0.31
Cerebellar Cortex5.93 ± 0.22
Cerebellar Nuclei5.72 ± 0.55
Claustrum5.64 ± 0.49
Epithalamus5.62 ± 0.45
Frontal Lobe5.72 ± 0.34
Globus Pallidus5.45 ± 0.36
Hypothalamus5.63 ± 0.3
Insula5.7 ± 0.2
Limbic Lobe5.68 ± 0.34
Mesencephalon5.7 ± 0.41
Myelencephalon5.66 ± 0.41
Occipital Lobe5.62 ± 0.32
Parietal Lobe5.7 ± 0.34
Pontine Tegmentum5.68 ± 0.32
Striatum5.39 ± 0.33
Subthalamus5.47 ± 0.19
Temporal Lobe5.74 ± 0.35
Thalamus5.58 ± 0.34
White Matter5.3 ± 0.17
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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