AutismKB 2.0

Annotation Detail for SMAD9


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Basic Information Top
Gene Symbol:SMAD9 ( MADH6,MADH9,SMAD8,SMAD8A,SMAD8B )
Gene Full Name: SMAD family member 9
Band: 13q13.3
Quick LinksEntrez ID:4093; OMIM: 603295; Uniprot ID:SMAD9_HUMAN; ENSEMBL ID: ENSG00000120693; HGNC ID: 6774
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 
fetus11 / 56401219
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult17 / 19391218
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal50 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine0 / 2344720 
kidney4 / 21177718
larynx0 / 241450 
liver3 / 20774314
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach7 / 9661972
testis2 / 3304426
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206320_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.55
Adipocyte6.55
AdrenalCortex6.9
Adrenalgland5.9
Amygdala6.8
Appendix6.65
AtrioventricularNode5.55
BDCA4+_DentriticCells7.25
Bonemarrow6.45
BronchialEpithelialCells6.35
CD105+_Endothelial6.6
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid7.95
CD34+8.4
CD4+_Tcells6.95
CD56+_NKCells7.55
CD71+_EarlyErythroid6.2
CD8+_Tcells5.85
CardiacMyocytes8.2
Caudatenucleus5.9
Cerebellum5.3
CerebellumPeduncles7.45
CiliaryGanglion5.6
CingulateCortex6.95
Colorectaladenocarcinoma6.5
DorsalRootGanglion5.2
FetalThyroid6.4
Fetalbrain6.65
Fetalliver5.7
Fetallung5.2
GlobusPallidus4.95
Heart8.4
Hypothalamus7.2
Kidney5.7
Leukemia_chronicMyelogenousK-5626
Leukemia_promyelocytic-HL-605.8
Leukemialymphoblastic(MOLT-4)5.35
Liver8.65
Lung7.2
Lymphnode5.75
Lymphoma_burkitts(Daudi)8.6
Lymphoma_burkitts(Raji)9.15
MedullaOblongata6.1
OccipitalLobe6
OlfactoryBulb5.3
Ovary4.35
Pancreas5.3
PancreaticIslet7.05
ParietalLobe7.3
Pituitary7.75
Placenta6.85
Pons8
PrefrontalCortex8.25
Prostate7.55
Salivarygland6.4
SkeletalMuscle12.7
Skin5.05
SmoothMuscle7.5
Spinalcord7.15
SubthalamicNucleus6
SuperiorCervicalGanglion7.45
TemporalLobe6.15
Testis5.7
TestisGermCell5.55
TestisIntersitial5.55
TestisLeydigCell6.45
TestisSeminiferousTubule5.7
Thalamus6.75
Thymus5
Thyroid8.35
Tongue8.65
Tonsil6.45
Trachea5.55
TrigeminalGanglion11.7
Uterus5.3
UterusCorpus6
WholeBlood7.2
Wholebrain5.3
colon6.55
pineal_day8
pineal_night8.02
retina8
small_intestine6.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P2814
  • 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
Amygdala5.55 ± 0.38
Basal Forebrain5.59 ± 0.6
Basal Part of Pons5.44 ± 0.38
Cerebellar Cortex5.65 ± 0.32
Cerebellar Nuclei5.95 ± 0.26
Claustrum5.04 ± 0.82
Epithalamus6.75 ± 0.54
Frontal Lobe5.79 ± 0.56
Globus Pallidus6.73 ± 0.22
Hypothalamus5.87 ± 0.77
Insula5.96 ± 0.3
Limbic Lobe5.86 ± 0.58
Mesencephalon5.62 ± 0.62
Myelencephalon5.79 ± 0.54
Occipital Lobe5.54 ± 0.41
Parietal Lobe5.58 ± 0.45
Pontine Tegmentum5.92 ± 0.47
Striatum5.63 ± 0.6
Subthalamus6.18 ± 0.41
Temporal Lobe5.84 ± 0.42
Thalamus5.85 ± 0.43
White Matter7.8 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smad9CBCerebellum0
0
Smad9CTXCerebral cortex0
0
Smad9HIPHippocampal region0
0
Smad9HPFHippocampal formation0
0
Smad9HYHypothalamus0
0
Smad9LSXLateral septal complex0
0
Smad9MBMidbrain0
0
Smad9MYMedulla0
0
Smad9OLFOlfactory bulb0
0
Smad9PPons0
0
Smad9PALPallidum0
0
Smad9RHPRetrohippocampal region0
0
Smad9sAMYStriatum-like amygdalar nuclei0
0
Smad9STRStriatum0
0
Smad9STRdStriatum dorsal region0
0
Smad9STRvStriatum ventral region0
0
Smad9THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002343 11 274 284 FCLGLLSNVNR 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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