AutismKB 2.0

Annotation Detail for SMAD3


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Basic Information Top
Gene Symbol:SMAD3 ( DKFZp586N0721,DKFZp686J10186,HSPC193,HsT17436,JV15-2,MADH3,MGC60396 )
Gene Full Name: SMAD family member 3
Band: 15q22.33
Quick LinksEntrez ID:4088; OMIM: 603109; Uniprot ID:SMAD3_HUMAN; ENSEMBL ID: ENSG00000166949; HGNC ID: 6769
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 body0 / 707610 
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal32 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain2 / 11009891
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart4 / 8962644
intestine5 / 23447221
kidney1 / 2117774
larynx2 / 2414582
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid10 / 47473210
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205397_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5
Adipocyte3.9
AdrenalCortex4.15
Adrenalgland3.35
Amygdala4.15
Appendix4
AtrioventricularNode3
BDCA4+_DentriticCells4.8
Bonemarrow4.05
BronchialEpithelialCells3.9
CD105+_Endothelial3.9
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid5
CD34+5
CD4+_Tcells4.2
CD56+_NKCells4.7
CD71+_EarlyErythroid3.7
CD8+_Tcells3.7
CardiacMyocytes5.65
Caudatenucleus3.55
Cerebellum3.15
CerebellumPeduncles4.45
CiliaryGanglion2.8
CingulateCortex4
Colorectaladenocarcinoma3.95
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.9
Fetalliver3.4
Fetallung3.2
GlobusPallidus2.9
Heart5.3
Hypothalamus4.2
Kidney3.3
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.45
Leukemialymphoblastic(MOLT-4)3.15
Liver5.5
Lung4.4
Lymphnode3.45
Lymphoma_burkitts(Daudi)5.05
Lymphoma_burkitts(Raji)5.55
MedullaOblongata3.55
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.6
Pancreas3.15
PancreaticIslet4.15
ParietalLobe4.25
Pituitary4.65
Placenta4.05
Pons3.75
PrefrontalCortex4.8
Prostate4.65
Salivarygland3.15
SkeletalMuscle9.35
Skin3.05
SmoothMuscle13.4
Spinalcord4.2
SubthalamicNucleus3.6
SuperiorCervicalGanglion4.45
TemporalLobe3.6
Testis3.4
TestisGermCell3.15
TestisIntersitial3.3
TestisLeydigCell3.9
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.15
Thyroid6.15
Tongue3.9
Tonsil3.85
Trachea3.3
TrigeminalGanglion4
Uterus3.25
UterusCorpus3.6
WholeBlood4.35
Wholebrain3.35
colon4
pineal_day4.84
pineal_night4.8
retina4.8
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P48936
  • 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
Amygdala8.25 ± 0.47
Basal Forebrain8.08 ± 0.25
Basal Part of Pons6.95 ± 0.35
Cerebellar Cortex7.25 ± 0.26
Cerebellar Nuclei7.57 ± 0.47
Claustrum8.41 ± 0.35
Epithalamus7.44 ± 0.42
Frontal Lobe7.9 ± 0.43
Globus Pallidus7.45 ± 0.61
Hypothalamus7.35 ± 0.28
Insula8.07 ± 0.39
Limbic Lobe7.9 ± 0.75
Mesencephalon7.83 ± 0.47
Myelencephalon7.87 ± 0.6
Occipital Lobe7.84 ± 0.56
Parietal Lobe7.83 ± 0.53
Pontine Tegmentum8.16 ± 0.43
Striatum9 ± 0.33
Subthalamus7.14 ± 0.31
Temporal Lobe7.94 ± 0.47
Thalamus7.88 ± 0.41
White Matter6.25 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smad3CBCerebellum10.81
14.74
Smad3CTXCerebral cortex14.42
11.61
Smad3HIPHippocampal region23.91
36.36
Smad3HPFHippocampal formation21.15
26.13
Smad3HYHypothalamus0.09
0.16
Smad3LSXLateral septal complex0.78
0.7
Smad3MBMidbrain0.96
1.21
Smad3MYMedulla1.35
1.77
Smad3OLFOlfactory bulb13.13
12.04
Smad3PPons0.65
1.07
Smad3PALPallidum0.55
0.42
Smad3RHPRetrohippocampal region17.17
13.37
Smad3sAMYStriatum-like amygdalar nuclei3.87
2.97
Smad3STRStriatum7.54
5.25
Smad3STRdStriatum dorsal region7.55
5.17
Smad3STRvStriatum ventral region13.08
8.72
Smad3THThalamus0.75
1.04
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002343 11 269 279 FCLGLLSNVNR Peptide Atlas
SMAD3_HUMAN_2 13 2 14 SSILPFTPPIVKR 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