AutismKB 2.0

Annotation Detail for EXT1


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Basic Information Top
Gene Symbol:EXT1 ( EXT,LGCR,LGS,TRPS2,TTV )
Gene Full Name: exostosin 1
Band: 8q24.11
Quick LinksEntrez ID:2131; OMIM: 608177; Uniprot ID:EXT1_HUMAN; ENSEMBL ID: ENSG00000182197; HGNC ID: 3512
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 body9 / 70761127
blastocyst2 / 6231932
fetus48 / 56401285
neonate8 / 31097257
infant0 / 236200 
juvenile1 / 5555617
adult111 / 193912157
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma17 / 82823205
colorectal tumor3 / 11424626
esophageal tumor3 / 17290173
gastrointestinal tumor7 / 11936958
germ cell tumor27 / 263845102
glioma8 / 10688374
head and neck tumor15 / 136302110
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor7 / 9635972
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal206 / 336030761
ovarian tumor2 / 7668226
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor10 / 12494980
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites4 / 4001599
bladder4 / 29757134
blood3 / 12347824
bone6 / 7165583
bone marrow3 / 4880161
brain26 / 110098923
cervix2 / 4817141
connective tissue12 / 14925580
ear2 / 16212123
embryonic tissue19 / 21572288
esophagus3 / 20209148
eye19 / 21105490
heart6 / 8962666
intestine11 / 23447246
kidney14 / 21177766
larynx5 / 24145207
liver13 / 20774362
lung39 / 336974115
lymph2 / 4427045
lymph node5 / 9161054
mammary gland5 / 15327132
mouth8 / 67052119
muscle1 / 1077159
nerve1 / 1576863
ovary3 / 10205129
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta13 / 28082546
prostate8 / 18934542
salivary gland3 / 20155148
skin27 / 210574128
spleen3 / 5395255
stomach2 / 9661920
testis19 / 33044257
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus13 / 23287855
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214985_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.95
Adipocyte8.15
AdrenalCortex9.15
Adrenalgland7.1
Amygdala7.9
Appendix10.85
AtrioventricularNode7.4
BDCA4+_DentriticCells8.75
Bonemarrow9
BronchialEpithelialCells7.8
CD105+_Endothelial8.25
CD14+_Monocytes8.95
CD19+_BCells(neg._sel.)8.85
CD33+_Myeloid10.6
CD34+10.05
CD4+_Tcells8.05
CD56+_NKCells8.85
CD71+_EarlyErythroid7.75
CD8+_Tcells7.2
CardiacMyocytes15.25
Caudatenucleus7.05
Cerebellum6.6
CerebellumPeduncles9.6
CiliaryGanglion8.15
CingulateCortex8.55
Colorectaladenocarcinoma8.2
DorsalRootGanglion8.1
FetalThyroid8.3
Fetalbrain7.65
Fetalliver7.25
Fetallung6.1
GlobusPallidus6.9
Heart12.6
Hypothalamus8.7
Kidney7
Leukemia_chronicMyelogenousK-5627.05
Leukemia_promyelocytic-HL-607.25
Leukemialymphoblastic(MOLT-4)6.45
Liver12.65
Lung9
Lymphnode6.25
Lymphoma_burkitts(Daudi)10.55
Lymphoma_burkitts(Raji)12.1
MedullaOblongata7.35
OccipitalLobe7.05
OlfactoryBulb6.5
Ovary7
Pancreas7.25
PancreaticIslet8.8
ParietalLobe8.95
Pituitary9.65
Placenta7.35
Pons8
PrefrontalCortex10.1
Prostate9.65
Salivarygland6.8
SkeletalMuscle10.25
Skin6.65
SmoothMuscle9.55
Spinalcord8.35
SubthalamicNucleus11.45
SuperiorCervicalGanglion12.65
TemporalLobe7.55
Testis6.8
TestisGermCell6.8
TestisIntersitial7.05
TestisLeydigCell8.7
TestisSeminiferousTubule6.7
Thalamus8.35
Thymus6.1
Thyroid10.1
Tongue9.5
Tonsil7.95
Trachea6.65
TrigeminalGanglion17.8
Uterus6.25
UterusCorpus7.75
WholeBlood8.6
Wholebrain6.9
colon8.3
pineal_day9.86
pineal_night9.74
retina9.45
small_intestine7.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_257_PI416408490
  • 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
Amygdala6.91 ± 0.59
Basal Forebrain6.55 ± 0.35
Basal Part of Pons6.73 ± 0.42
Cerebellar Cortex6.17 ± 0.29
Cerebellar Nuclei6.78 ± 0.29
Claustrum6.83 ± 0.55
Epithalamus5.92 ± 0.41
Frontal Lobe6.58 ± 0.49
Globus Pallidus7.08 ± 0.32
Hypothalamus6.4 ± 0.39
Insula6.37 ± 0.53
Limbic Lobe6.66 ± 0.52
Mesencephalon6.61 ± 0.46
Myelencephalon6.62 ± 0.53
Occipital Lobe6.61 ± 0.52
Parietal Lobe6.56 ± 0.5
Pontine Tegmentum6.52 ± 0.43
Striatum6.82 ± 0.57
Subthalamus6.42 ± 0.12
Temporal Lobe6.52 ± 0.54
Thalamus6.73 ± 0.44
White Matter6.39 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ext1CBCerebellum0.96
2.75
Ext1CTXCerebral cortex10.06
7.61
Ext1HIPHippocampal region4.89
6.23
Ext1HPFHippocampal formation5.13
6.07
Ext1HYHypothalamus0.69
0.65
Ext1LSXLateral septal complex3.63
3.82
Ext1MBMidbrain0.48
0.59
Ext1MYMedulla0.07
0.2
Ext1OLFOlfactory bulb15.93
15.84
Ext1PPons0.89
2.47
Ext1PALPallidum2
1.76
Ext1RHPRetrohippocampal region5.75
6.16
Ext1sAMYStriatum-like amygdalar nuclei4.76
3.48
Ext1STRStriatum3.09
2.42
Ext1STRdStriatum dorsal region2.93
2.18
Ext1STRvStriatum ventral region1.27
1.1
Ext1THThalamus1.32
1.12
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00882546 16 127 142 IAESYQNILAAIEGSR 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


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