AutismKB 2.0

Annotation Detail for SMO


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Basic Information Top
Gene Symbol:SMO ( Gx,SMOH )
Gene Full Name: smoothened homolog (Drosophila)
Band: 7q32.1
Quick LinksEntrez ID:6608; OMIM: 601500; Uniprot ID:SMO_HUMAN; ENSEMBL ID: ENSG00000128602; HGNC ID: 11119
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
blastocyst4 / 6231964
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult52 / 193912126
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor13 / 26384549
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal62 / 336030718
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor8 / 12519163
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 
bone3 / 7165541
bone marrow1 / 4880120
brain17 / 110098915
cervix0 / 481710 
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye12 / 21105456
heart3 / 8962633
intestine5 / 23447221
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland8 / 15327152
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary6 / 10205158
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218629_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.8
Adipocyte16.45
AdrenalCortex20.45
Adrenalgland17.75
Amygdala15.95
Appendix18.05
AtrioventricularNode22.4
BDCA4+_DentriticCells14.6
Bonemarrow17.1
BronchialEpithelialCells15.15
CD105+_Endothelial15.75
CD14+_Monocytes15.5
CD19+_BCells(neg._sel.)12.9
CD33+_Myeloid24.05
CD34+17.35
CD4+_Tcells17.25
CD56+_NKCells15.65
CD71+_EarlyErythroid14.35
CD8+_Tcells12.85
CardiacMyocytes19.25
Caudatenucleus13.85
Cerebellum13.05
CerebellumPeduncles19.85
CiliaryGanglion15.55
CingulateCortex18.55
Colorectaladenocarcinoma16.25
DorsalRootGanglion13.25
FetalThyroid16.4
Fetalbrain15.9
Fetalliver14.2
Fetallung11.65
GlobusPallidus12.1
Heart17.55
Hypothalamus14.45
Kidney15.7
Leukemia_chronicMyelogenousK-56221.1
Leukemia_promyelocytic-HL-6013.15
Leukemialymphoblastic(MOLT-4)49.65
Liver22.35
Lung10.55
Lymphnode13.45
Lymphoma_burkitts(Daudi)20.15
Lymphoma_burkitts(Raji)20.7
MedullaOblongata14.1
OccipitalLobe17.35
OlfactoryBulb17.4
Ovary11.9
Pancreas12.25
PancreaticIslet16.4
ParietalLobe17.85
Pituitary23.6
Placenta15.75
Pons15.25
PrefrontalCortex19.35
Prostate18.6
Salivarygland15.55
SkeletalMuscle15.25
Skin19.35
SmoothMuscle15.6
Spinalcord17.55
SubthalamicNucleus14
SuperiorCervicalGanglion23.35
TemporalLobe21.1
Testis13.15
TestisGermCell13.2
TestisIntersitial15.05
TestisLeydigCell15.95
TestisSeminiferousTubule13.5
Thalamus24.95
Thymus12.15
Thyroid19.55
Tongue18.7
Tonsil16.15
Trachea14.35
TrigeminalGanglion27.4
Uterus11
UterusCorpus15.7
WholeBlood13.5
Wholebrain12.85
colon13.35
pineal_day21.24
pineal_night17.54
retina26.9
small_intestine12.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15813_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
Amygdala1.79 ± 1.04
Basal Forebrain1.33 ± 0.33
Basal Part of Pons1.09 ± 0.3
Cerebellar Cortex1.5 ± 0.87
Cerebellar Nuclei1.77 ± 0.65
Claustrum2.18 ± 0.84
Epithalamus1.66 ± 0.51
Frontal Lobe1.43 ± 0.72
Globus Pallidus2.05 ± 0.73
Hypothalamus1.56 ± 0.67
Insula1.58 ± 0.56
Limbic Lobe1.5 ± 0.67
Mesencephalon1.64 ± 0.81
Myelencephalon1.56 ± 0.71
Occipital Lobe1.77 ± 0.75
Parietal Lobe1.5 ± 0.76
Pontine Tegmentum1.65 ± 0.69
Striatum1.55 ± 0.69
Subthalamus1.47 ± 0.71
Temporal Lobe1.43 ± 0.75
Thalamus1.5 ± 0.71
White Matter1.88 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SmoCBCerebellum4.55
5.27
SmoCTXCerebral cortex2.78
2.16
SmoHIPHippocampal region3.75
3.31
SmoHPFHippocampal formation4.93
3.93
SmoHYHypothalamus0.42
0.46
SmoLSXLateral septal complex0.1
0.09
SmoMBMidbrain2.33
2.76
SmoMYMedulla4.08
4.27
SmoOLFOlfactory bulb5.47
3.93
SmoPPons1.84
3.16
SmoPALPallidum0.89
0.72
SmoRHPRetrohippocampal region7.31
5.09
SmosAMYStriatum-like amygdalar nuclei3.69
4.63
SmoSTRStriatum1.26
1.17
SmoSTRdStriatum dorsal region0.92
0.83
SmoSTRvStriatum ventral region1.21
0.76
SmoTHThalamus1.31
1.21
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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