AutismKB 2.0

Annotation Detail for SMAD4


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Basic Information Top
Gene Symbol:SMAD4 ( DPC4,JIP,MADH4 )
Gene Full Name: SMAD family member 4
Band: 18q21.2
Quick LinksEntrez ID:4089; OMIM: 600993; Uniprot ID:SMAD4_HUMAN; ENSEMBL ID: ENSG00000141646; HGNC ID: 6770
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
blastocyst3 / 6231948
fetus57 / 564012101
neonate1 / 3109732
infant2 / 2362084
juvenile5 / 5555689
adult144 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor18 / 26384568
glioma1 / 1068839
head and neck tumor18 / 136302132
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal248 / 336030773
ovarian tumor7 / 7668291
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer18 / 102680175
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood4 / 12347832
bone2 / 7165527
bone marrow1 / 4880120
brain66 / 110098959
cervix2 / 4817141
connective tissue5 / 14925533
ear4 / 16212246
embryonic tissue26 / 215722120
esophagus0 / 202090 
eye8 / 21105437
heart5 / 8962655
intestine8 / 23447234
kidney21 / 21177799
larynx0 / 241450 
liver16 / 20774377
lung24 / 33697471
lymph2 / 4427045
lymph node7 / 9161076
mammary gland15 / 15327197
mouth5 / 6705274
muscle14 / 107715129
nerve2 / 15768126
ovary10 / 10205197
pancreas4 / 21481218
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta18 / 28082564
prostate21 / 189345110
salivary gland1 / 2015549
skin6 / 21057428
spleen4 / 5395274
stomach4 / 9661941
testis26 / 33044278
thymus10 / 81131123
thyroid11 / 47473231
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord0 / 136800 
uterus17 / 23287872
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202526_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.25
Adipocyte7.65
AdrenalCortex9.95
Adrenalgland7.55
Amygdala7.7
Appendix15.35
AtrioventricularNode7.75
BDCA4+_DentriticCells8.1
Bonemarrow9.1
BronchialEpithelialCells7.4
CD105+_Endothelial7.85
CD14+_Monocytes8.4
CD19+_BCells(neg._sel.)8.25
CD33+_Myeloid9.75
CD34+9.6
CD4+_Tcells8.05
CD56+_NKCells9.05
CD71+_EarlyErythroid7.6
CD8+_Tcells7.05
CardiacMyocytes13.2
Caudatenucleus7.25
Cerebellum6.65
CerebellumPeduncles9.7
CiliaryGanglion7.3
CingulateCortex8.5
Colorectaladenocarcinoma7.85
DorsalRootGanglion7
FetalThyroid8.1
Fetalbrain7.4
Fetalliver7.35
Fetallung5.75
GlobusPallidus7.25
Heart15.25
Hypothalamus8.2
Kidney7.85
Leukemia_chronicMyelogenousK-5627.15
Leukemia_promyelocytic-HL-606.95
Leukemialymphoblastic(MOLT-4)5.95
Liver11.75
Lung8.5
Lymphnode6.45
Lymphoma_burkitts(Daudi)10.55
Lymphoma_burkitts(Raji)11.95
MedullaOblongata10.05
OccipitalLobe7.05
OlfactoryBulb6.1
Ovary6.4
Pancreas6.9
PancreaticIslet8.7
ParietalLobe9.2
Pituitary9.25
Placenta7.85
Pons9.15
PrefrontalCortex9.2
Prostate9.1
Salivarygland6.95
SkeletalMuscle13.75
Skin9
SmoothMuscle8.85
Spinalcord8.4
SubthalamicNucleus7.6
SuperiorCervicalGanglion17.05
TemporalLobe7.9
Testis7
TestisGermCell6.15
TestisIntersitial6.8
TestisLeydigCell8.25
TestisSeminiferousTubule6.8
Thalamus8.5
Thymus6
Thyroid9.3
Tongue9.15
Tonsil7.95
Trachea6.7
TrigeminalGanglion17
Uterus6.25
UterusCorpus8.15
WholeBlood8.45
Wholebrain6.35
colon9.4
pineal_day10.14
pineal_night9.44
retina9.725
small_intestine9.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15879_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
Amygdala4.46 ± 0.68
Basal Forebrain4.51 ± 0.24
Basal Part of Pons4.23 ± 0.42
Cerebellar Cortex5.14 ± 0.37
Cerebellar Nuclei4.37 ± 0.57
Claustrum4.13 ± 0.64
Epithalamus4.63 ± 0.26
Frontal Lobe4.45 ± 0.55
Globus Pallidus4.84 ± 0.47
Hypothalamus4.49 ± 0.58
Insula4.73 ± 0.48
Limbic Lobe4.43 ± 0.56
Mesencephalon4.74 ± 0.66
Myelencephalon4.51 ± 0.56
Occipital Lobe4.41 ± 0.49
Parietal Lobe4.58 ± 0.55
Pontine Tegmentum4.48 ± 0.54
Striatum4.48 ± 0.62
Subthalamus4.07 ± 0.75
Temporal Lobe4.5 ± 0.48
Thalamus4.49 ± 0.51
White Matter5.51 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smad4CBCerebellum12.75
13.48
Smad4CTXCerebral cortex31.21
21.71
Smad4HIPHippocampal region29.95
43.83
Smad4HPFHippocampal formation25.99
31.51
Smad4HYHypothalamus6.05
4.62
Smad4LSXLateral septal complex11.19
7.98
Smad4MBMidbrain9.35
7.9
Smad4MYMedulla18.57
18.38
Smad4OLFOlfactory bulb34.16
26.25
Smad4PPons12.56
11.92
Smad4PALPallidum11.05
8.95
Smad4RHPRetrohippocampal region18.41
13.38
Smad4sAMYStriatum-like amygdalar nuclei7.56
5.32
Smad4STRStriatum66.66
49.46
Smad4STRdStriatum dorsal region88.34
67.02
Smad4STRvStriatum ventral region57.79
39.6
Smad4THThalamus15.61
13.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00097237 21 341 361 VPSSCPIVTVDGYVDPSGGDR Peptide Atlas
SMAD4_HUMAN_28 11 28 38 QGGESETFAKR 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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