AutismKB 2.0

Annotation Detail for SMAD5


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Basic Information Top
Gene Symbol:SMAD5 ( DKFZp781C1895,DKFZp781O1323,Dwfc,JV5-1,MADH5 )
Gene Full Name: SMAD family member 5
Band: 5q31.1
Quick LinksEntrez ID:4090; OMIM: 603110; Uniprot ID:SMAD5_HUMAN; ENSEMBL ID: ENSG00000113658; HGNC ID: 6771
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 body6 / 7076184
blastocyst6 / 6231996
fetus38 / 56401267
neonate2 / 3109764
infant5 / 23620211
juvenile7 / 55556125
adult100 / 193912151
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor10 / 26384537
glioma1 / 1068839
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor11 / 96359114
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia7 / 9725071
normal214 / 336030763
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder1 / 2975733
blood6 / 12347848
bone3 / 7165541
bone marrow2 / 4880140
brain57 / 110098951
cervix2 / 4817141
connective tissue11 / 14925573
ear1 / 1621261
embryonic tissue24 / 215722111
esophagus1 / 2020949
eye4 / 21105418
heart2 / 8962622
intestine11 / 23447246
kidney13 / 21177761
larynx1 / 2414541
liver23 / 207743110
lung18 / 33697453
lymph0 / 442700 
lymph node13 / 91610141
mammary gland4 / 15327126
mouth10 / 67052149
muscle23 / 107715213
nerve0 / 157680 
ovary5 / 10205148
pancreas15 / 21481269
parathyroid4 / 20539194
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta15 / 28082553
prostate6 / 18934531
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach2 / 9661920
testis14 / 33044242
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus23 / 23287898
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205187_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.6
Adipocyte14.85
AdrenalCortex23.25
Adrenalgland14.6
Amygdala12.45
Appendix25.2
AtrioventricularNode26
BDCA4+_DentriticCells11.95
Bonemarrow17.75
BronchialEpithelialCells13.2
CD105+_Endothelial16.9
CD14+_Monocytes15.6
CD19+_BCells(neg._sel.)13.9
CD33+_Myeloid17.3
CD34+16.1
CD4+_Tcells13.1
CD56+_NKCells15
CD71+_EarlyErythroid14.8
CD8+_Tcells11.45
CardiacMyocytes32.55
Caudatenucleus13.25
Cerebellum12.25
CerebellumPeduncles20.9
CiliaryGanglion25.7
CingulateCortex15.5
Colorectaladenocarcinoma14.6
DorsalRootGanglion17.95
FetalThyroid17.9
Fetalbrain13.25
Fetalliver13.15
Fetallung10.2
GlobusPallidus14.05
Heart28.95
Hypothalamus13.8
Kidney16.05
Leukemia_chronicMyelogenousK-56212.7
Leukemia_promyelocytic-HL-6013.3
Leukemialymphoblastic(MOLT-4)10.75
Liver26.85
Lung16.1
Lymphnode11.25
Lymphoma_burkitts(Daudi)20.65
Lymphoma_burkitts(Raji)25.35
MedullaOblongata12.3
OccipitalLobe12.75
OlfactoryBulb11.55
Ovary14.9
Pancreas13.1
PancreaticIslet16.2
ParietalLobe18.45
Pituitary17.6
Placenta13.35
Pons16.5
PrefrontalCortex14.05
Prostate17.6
Salivarygland13.4
SkeletalMuscle29.55
Skin23.7
SmoothMuscle16.45
Spinalcord15.1
SubthalamicNucleus18
SuperiorCervicalGanglion32.6
TemporalLobe15
Testis12.1
TestisGermCell10.65
TestisIntersitial14.1
TestisLeydigCell16.65
TestisSeminiferousTubule12.35
Thalamus15.8
Thymus10.6
Thyroid16
Tongue21.15
Tonsil15.25
Trachea13.05
TrigeminalGanglion30.55
Uterus21.75
UterusCorpus18.7
WholeBlood14.85
Wholebrain9.85
colon15.1
pineal_day16.98
pineal_night18.12
retina16.75
small_intestine29.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15585_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
Amygdala5.7 ± 0.49
Basal Forebrain6.04 ± 0.27
Basal Part of Pons5.39 ± 0.25
Cerebellar Cortex5.93 ± 0.19
Cerebellar Nuclei5.9 ± 0.54
Claustrum5.35 ± 0.56
Epithalamus6.37 ± 0.24
Frontal Lobe5.48 ± 0.43
Globus Pallidus6.36 ± 0.4
Hypothalamus5.93 ± 0.25
Insula5.43 ± 0.37
Limbic Lobe5.43 ± 0.44
Mesencephalon5.89 ± 0.36
Myelencephalon5.69 ± 0.42
Occipital Lobe5.93 ± 0.44
Parietal Lobe5.55 ± 0.39
Pontine Tegmentum5.62 ± 0.39
Striatum5.75 ± 0.47
Subthalamus5.63 ± 0.29
Temporal Lobe5.51 ± 0.37
Thalamus5.68 ± 0.36
White Matter6.46 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smad5CBCerebellum1.87
3.99
Smad5CTXCerebral cortex0.53
0.88
Smad5HIPHippocampal region0.33
0.6
Smad5HPFHippocampal formation0.29
0.47
Smad5HYHypothalamus0.15
0.16
Smad5LSXLateral septal complex0.05
0
Smad5MBMidbrain0.09
0.15
Smad5MYMedulla0.19
0.29
Smad5OLFOlfactory bulb0.31
0.31
Smad5PPons0.1
0.27
Smad5PALPallidum0.18
0.22
Smad5RHPRetrohippocampal region0.23
0.31
Smad5sAMYStriatum-like amygdalar nuclei0.06
0
Smad5STRStriatum0.31
0.35
Smad5STRdStriatum dorsal region0.41
0.48
Smad5STRvStriatum ventral region0.08
0.05
Smad5THThalamus0.38
0.48
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


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