AutismKB 2.0

Annotation Detail for SMC3


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Basic Information Top
Gene Symbol:SMC3 ( BAM,BMH,CDLS3,CSPG6,HCAP,SMC3L1 )
Gene Full Name: structural maintenance of chromosomes 3
Band: 10q25.2
Quick LinksEntrez ID:9126; OMIM: 606062; Uniprot ID:SMC3_HUMAN; ENSEMBL ID: ENSG00000108055; HGNC ID: 2468
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 body4 / 7076156
blastocyst9 / 62319144
fetus39 / 56401269
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult78 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor31 / 263845117
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma7 / 7175597
non-neoplasia3 / 9725030
normal164 / 336030748
ovarian tumor1 / 7668213
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer9 / 10268087
retinoblastoma4 / 4635686
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder3 / 29757100
blood14 / 123478113
bone1 / 7165513
bone marrow2 / 4880140
brain45 / 110098940
cervix0 / 481710 
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine7 / 23447229
kidney15 / 21177770
larynx1 / 2414541
liver12 / 20774357
lung3 / 3369748
lymph7 / 44270158
lymph node4 / 9161043
mammary gland4 / 15327126
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary2 / 10205119
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta11 / 28082539
prostate14 / 18934573
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach4 / 9661941
testis32 / 33044296
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209259_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts91.75
Adipocyte11.7
AdrenalCortex12.4
Adrenalgland9.9
Amygdala12.55
Appendix11.95
AtrioventricularNode9.7
BDCA4+_DentriticCells22.95
Bonemarrow7.55
BronchialEpithelialCells10.15
CD105+_Endothelial66
CD14+_Monocytes17.05
CD19+_BCells(neg._sel.)23.55
CD33+_Myeloid19.3
CD34+67.65
CD4+_Tcells22.95
CD56+_NKCells36.3
CD71+_EarlyErythroid28.25
CD8+_Tcells46.85
CardiacMyocytes21.65
Caudatenucleus10.65
Cerebellum9.3
CerebellumPeduncles13.45
CiliaryGanglion8.55
CingulateCortex12.1
Colorectaladenocarcinoma18.4
DorsalRootGanglion10.05
FetalThyroid11.85
Fetalbrain37.95
Fetalliver28.6
Fetallung12.95
GlobusPallidus7.9
Heart15.05
Hypothalamus21
Kidney8.05
Leukemia_chronicMyelogenousK-56216.05
Leukemia_promyelocytic-HL-60126.05
Leukemialymphoblastic(MOLT-4)110.9
Liver15
Lung8.75
Lymphnode21.3
Lymphoma_burkitts(Daudi)88.1
Lymphoma_burkitts(Raji)52.4
MedullaOblongata10.6
OccipitalLobe10.6
OlfactoryBulb9.35
Ovary7.85
Pancreas9.6
PancreaticIslet29.4
ParietalLobe12.5
Pituitary15.25
Placenta10.45
Pons11.25
PrefrontalCortex17
Prostate10.85
Salivarygland10.8
SkeletalMuscle12.65
Skin9.2
SmoothMuscle15.35
Spinalcord15.3
SubthalamicNucleus11.6
SuperiorCervicalGanglion13.35
TemporalLobe10.5
Testis10.2
TestisGermCell52.25
TestisIntersitial54.4
TestisLeydigCell49.2
TestisSeminiferousTubule35.25
Thalamus12.15
Thymus9.25
Thyroid14.8
Tongue11.55
Tonsil17.65
Trachea9.75
TrigeminalGanglion10.85
Uterus25.9
UterusCorpus11
WholeBlood28.8
Wholebrain8.8
colon11.8
pineal_day38.2
pineal_night31.54
retina13.5
small_intestine11.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P138631
  • 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
Amygdala6.77 ± 0.41
Basal Forebrain7.11 ± 0.19
Basal Part of Pons7.04 ± 0.22
Cerebellar Cortex7.3 ± 0.16
Cerebellar Nuclei6.86 ± 0.47
Claustrum6.69 ± 0.47
Epithalamus7.45 ± 0.25
Frontal Lobe6.94 ± 0.32
Globus Pallidus7.26 ± 0.34
Hypothalamus7.15 ± 0.25
Insula6.97 ± 0.19
Limbic Lobe6.72 ± 0.32
Mesencephalon6.94 ± 0.39
Myelencephalon6.94 ± 0.37
Occipital Lobe6.8 ± 0.38
Parietal Lobe6.85 ± 0.35
Pontine Tegmentum6.91 ± 0.4
Striatum7.04 ± 0.38
Subthalamus7.03 ± 0.05
Temporal Lobe6.95 ± 0.31
Thalamus7 ± 0.35
White Matter8.01 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smc3CBCerebellum100
100
Smc3CTXCerebral cortex100
100
Smc3HIPHippocampal region100
100
Smc3HPFHippocampal formation100
100
Smc3HYHypothalamus70.1
57.36
Smc3LSXLateral septal complex100
91.03
Smc3MBMidbrain74.23
67.95
Smc3MYMedulla73.48
79.34
Smc3OLFOlfactory bulb100
100
Smc3PPons71.32
72.66
Smc3PALPallidum75.34
71.27
Smc3RHPRetrohippocampal region100
100
Smc3sAMYStriatum-like amygdalar nuclei91.62
76.66
Smc3STRStriatum99.04
82.47
Smc3STRdStriatum dorsal region96.33
79.94
Smc3STRvStriatum ventral region100
91.73
Smc3THThalamus98.71
95.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00006713 33 839 871 RLDQVEQELNELRETEGGTVLTATTSELEAINK Peptide Atlas
SMC3_HUMAN_1 12 1 12 MYIKQVIIQGFR PRIDE
SMC3_HUMAN_144 12 144 155 INQMATAPDSQR PRIDE
SMC3_HUMAN_296 7 296 302 QEQIKQR PRIDE
SMC3_HUMAN_759 16 759 774 SLQSLEASLHAMESTR 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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