AutismKB 2.0

Annotation Detail for SMAD6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMAD6 ( HsT17432,MADH6,MADH7 )
Gene Full Name: SMAD family member 6
Band: 15q22.31
Quick LinksEntrez ID:4091; OMIM: 602931; Uniprot ID:SMAD6_HUMAN; ENSEMBL ID: ENSG00000137834; HGNC ID: 6772
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 body1 / 7076114
blastocyst1 / 6231916
fetus44 / 56401278
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult53 / 193912127
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal126 / 336030737
ovarian tumor13 / 76682169
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain19 / 110098917
cervix4 / 4817183
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart6 / 8962666
intestine11 / 23447246
kidney18 / 21177784
larynx0 / 241450 
liver0 / 2077430 
lung31 / 33697491
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary13 / 102051127
pancreas11 / 21481251
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate0 / 1893450 
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
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: 209886_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.25
Adipocyte12.1
AdrenalCortex27.9
Adrenalgland11.15
Amygdala11.9
Appendix7.65
AtrioventricularNode10.25
BDCA4+_DentriticCells9.4
Bonemarrow20.45
BronchialEpithelialCells7.85
CD105+_Endothelial14.55
CD14+_Monocytes12.6
CD19+_BCells(neg._sel.)8.1
CD33+_Myeloid11.9
CD34+13.05
CD4+_Tcells13.55
CD56+_NKCells11.8
CD71+_EarlyErythroid11.7
CD8+_Tcells11.15
CardiacMyocytes19.75
Caudatenucleus11.2
Cerebellum11.65
CerebellumPeduncles17.5
CiliaryGanglion14.4
CingulateCortex14.15
Colorectaladenocarcinoma10.1
DorsalRootGanglion18.1
FetalThyroid12.25
Fetalbrain15.6
Fetalliver10.9
Fetallung10
GlobusPallidus15.1
Heart16.1
Hypothalamus12.35
Kidney14.15
Leukemia_chronicMyelogenousK-56211.8
Leukemia_promyelocytic-HL-6010.95
Leukemialymphoblastic(MOLT-4)10.5
Liver15.25
Lung22.55
Lymphnode9.1
Lymphoma_burkitts(Daudi)16.45
Lymphoma_burkitts(Raji)19.1
MedullaOblongata11.55
OccipitalLobe11.1
OlfactoryBulb9.9
Ovary9.65
Pancreas10
PancreaticIslet10.15
ParietalLobe14
Pituitary14.75
Placenta13.2
Pons15.7
PrefrontalCortex15.3
Prostate14.6
Salivarygland11.4
SkeletalMuscle31.45
Skin18.45
SmoothMuscle13.3
Spinalcord13.45
SubthalamicNucleus22
SuperiorCervicalGanglion25.75
TemporalLobe11.95
Testis10.5
TestisGermCell10.65
TestisIntersitial10.3
TestisLeydigCell12.6
TestisSeminiferousTubule17.95
Thalamus13
Thymus5.3
Thyroid12.7
Tongue15.2
Tonsil12.95
Trachea9.05
TrigeminalGanglion12.15
Uterus10.35
UterusCorpus11.9
WholeBlood6.2
Wholebrain8.15
colon12.5
pineal_day22.1
pineal_night25
retina15.375
small_intestine12.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_17041_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
Amygdala3.05 ± 0.88
Basal Forebrain2.6 ± 0.35
Basal Part of Pons2.6 ± 0.65
Cerebellar Cortex2.66 ± 0.7
Cerebellar Nuclei2.9 ± 0.61
Claustrum3.34 ± 0.74
Epithalamus2.46 ± 0.67
Frontal Lobe2.65 ± 0.68
Globus Pallidus3.3 ± 0.64
Hypothalamus2.39 ± 0.66
Insula2.63 ± 0.55
Limbic Lobe2.84 ± 0.74
Mesencephalon2.57 ± 0.56
Myelencephalon2.81 ± 0.73
Occipital Lobe2.85 ± 0.77
Parietal Lobe2.6 ± 0.79
Pontine Tegmentum2.54 ± 0.72
Striatum2.84 ± 0.63
Subthalamus2.17 ± 0.8
Temporal Lobe2.66 ± 0.82
Thalamus2.57 ± 0.74
White Matter2.8 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smad6CBCerebellum2.74
3.76
Smad6CTXCerebral cortex2.38
2.74
Smad6HIPHippocampal region1.47
2.45
Smad6HPFHippocampal formation1.11
1.69
Smad6HYHypothalamus3.04
4
Smad6LSXLateral septal complex0.23
0.22
Smad6MBMidbrain1.27
1.68
Smad6MYMedulla6.25
7.27
Smad6OLFOlfactory bulb2.92
2.73
Smad6PPons1.77
2.21
Smad6PALPallidum0.21
0.18
Smad6RHPRetrohippocampal region0.54
0.71
Smad6sAMYStriatum-like amygdalar nuclei0.89
1.87
Smad6STRStriatum0.55
0.84
Smad6STRdStriatum dorsal region0.4
0.82
Smad6STRvStriatum ventral region1.07
0.72
Smad6THThalamus0.98
1.2
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved