AutismKB 2.0

Annotation Detail for SMTN


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Basic Information Top
Gene Symbol:SMTN ( FLJ35365,FLJ38597 )
Gene Full Name: smoothelin
Band: 22q12.2
Quick LinksEntrez ID:6525; OMIM: 602127; Uniprot ID:SMTN_HUMAN; ENSEMBL ID: ENSG00000183963; HGNC ID: 11126
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 body10 / 70761141
blastocyst1 / 6231916
fetus38 / 56401267
neonate9 / 31097289
infant0 / 236200 
juvenile1 / 5555617
adult208 / 1939121107
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma11 / 82823132
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor15 / 26384556
glioma4 / 10688337
head and neck tumor14 / 136302102
kidney tumor7 / 68959101
leukemia4 / 9584241
liver tumor12 / 96359124
lung tumor7 / 10312767
lymphoma12 / 71755167
non-neoplasia6 / 9725061
normal542 / 3360307161
ovarian tumor13 / 76682169
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor33 / 124949264
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites8 / 40015199
bladder1 / 2975733
blood3 / 12347824
bone7 / 7165597
bone marrow1 / 4880120
brain137 / 1100989124
cervix5 / 48171103
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus11 / 20209544
eye15 / 21105471
heart41 / 89626457
intestine96 / 234472409
kidney39 / 211777184
larynx3 / 24145124
liver18 / 20774386
lung28 / 33697483
lymph7 / 44270158
lymph node0 / 916100 
mammary gland10 / 15327165
mouth12 / 67052178
muscle29 / 107715269
nerve2 / 15768126
ovary16 / 102051156
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta38 / 280825135
prostate32 / 189345169
salivary gland0 / 201550 
skin50 / 210574237
spleen18 / 53952333
stomach37 / 96619382
testis54 / 330442163
thymus33 / 81131406
thyroid3 / 4747363
tonsil1 / 1699958
trachea24 / 52413457
umbilical cord0 / 136800 
uterus248 / 2328781064
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207390_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.6
Adipocyte3.45
AdrenalCortex3.6
Adrenalgland2.95
Amygdala3.6
Appendix41.15
AtrioventricularNode2.7
BDCA4+_DentriticCells3.8
Bonemarrow3.45
BronchialEpithelialCells13.75
CD105+_Endothelial3.55
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.75
CD33+_Myeloid4.45
CD34+4.5
CD4+_Tcells3.8
CD56+_NKCells4.2
CD71+_EarlyErythroid3.25
CD8+_Tcells3.35
CardiacMyocytes4.5
Caudatenucleus3.15
Cerebellum2.8
CerebellumPeduncles3.95
CiliaryGanglion2.5
CingulateCortex3.55
Colorectaladenocarcinoma4.9
DorsalRootGanglion4.25
FetalThyroid4.7
Fetalbrain3.5
Fetalliver3.05
Fetallung8.3
GlobusPallidus2.5
Heart112.95
Hypothalamus3.8
Kidney2.9
Leukemia_chronicMyelogenousK-5623.15
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)2.8
Liver4.6
Lung12.45
Lymphnode3.05
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)4.9
MedullaOblongata3.15
OccipitalLobe3.1
OlfactoryBulb62.75
Ovary2.45
Pancreas2.8
PancreaticIslet3.7
ParietalLobe3.65
Pituitary4.1
Placenta3.7
Pons3.3
PrefrontalCortex4.3
Prostate390.9
Salivarygland2.8
SkeletalMuscle4.1
Skin2.65
SmoothMuscle7.7
Spinalcord3.75
SubthalamicNucleus3.2
SuperiorCervicalGanglion3.95
TemporalLobe3.2
Testis3
TestisGermCell4.1
TestisIntersitial2.95
TestisLeydigCell3.45
TestisSeminiferousTubule2.95
Thalamus3.55
Thymus2.8
Thyroid4.45
Tongue3.4
Tonsil3.4
Trachea2.95
TrigeminalGanglion3.6
Uterus327.4
UterusCorpus7.75
WholeBlood3.8
Wholebrain2.95
colon360.05
pineal_day4.38
pineal_night4.28
retina120.25
small_intestine145.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_763_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
Amygdala2.99 ± 0.98
Basal Forebrain2.63 ± 0.59
Basal Part of Pons2.33 ± 0.32
Cerebellar Cortex3.03 ± 0.54
Cerebellar Nuclei3.32 ± 0.88
Claustrum3.19 ± 0.95
Epithalamus2.33 ± 0.71
Frontal Lobe2.6 ± 0.85
Globus Pallidus3.38 ± 0.93
Hypothalamus2.4 ± 0.6
Insula2.41 ± 0.66
Limbic Lobe2.55 ± 0.8
Mesencephalon3.04 ± 0.84
Myelencephalon2.74 ± 0.8
Occipital Lobe2.81 ± 0.74
Parietal Lobe2.57 ± 0.91
Pontine Tegmentum2.64 ± 0.85
Striatum2.87 ± 0.9
Subthalamus2.84 ± 0.78
Temporal Lobe2.58 ± 0.87
Thalamus2.9 ± 0.79
White Matter3 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SmtnCBCerebellum7.94
10.66
SmtnCTXCerebral cortex13.75
10.84
SmtnHIPHippocampal region12.01
17.08
SmtnHPFHippocampal formation17.45
21.05
SmtnHYHypothalamus6.89
7.25
SmtnLSXLateral septal complex6.26
5.73
SmtnMBMidbrain9.18
11.82
SmtnMYMedulla9.24
11.74
SmtnOLFOlfactory bulb18.93
18.31
SmtnPPons11.83
15.86
SmtnPALPallidum6.41
7.27
SmtnRHPRetrohippocampal region24.02
24.26
SmtnsAMYStriatum-like amygdalar nuclei5.8
6.89
SmtnSTRStriatum6.46
5.68
SmtnSTRdStriatum dorsal region5.5
4.64
SmtnSTRvStriatum ventral region8.51
6.58
SmtnTHThalamus36.19
33.67
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00062423 22 437 458 SEEPGAPLPVAVGTAEPGGSMK Peptide Atlas
SMTN_HUMAN_82 19 82 100 LAGQLESMNDVEELTALLR PRIDE

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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