AutismKB 2.0

Annotation Detail for SMARCA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMARCA2 ( BAF190,BRM,FLJ36757,MGC74511,SNF2,SNF2L2,SNF2LA,SWI2,Sth1p,hBRM,hSNF2a )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Band: 9p24.3
Quick LinksEntrez ID:6595; OMIM: 600014; Uniprot ID:SMCA2_HUMAN; ENSEMBL ID: ENSG00000080503; HGNC ID: 11098
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
blastocyst3 / 6231948
fetus51 / 56401290
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult164 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor10 / 94178106
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor10 / 26384537
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma6 / 7175583
non-neoplasia6 / 9725061
normal304 / 336030790
ovarian tumor8 / 76682104
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain74 / 110098967
cervix1 / 4817120
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye26 / 211054123
heart17 / 89626189
intestine7 / 23447229
kidney15 / 21177770
larynx0 / 241450 
liver6 / 20774328
lung19 / 33697456
lymph2 / 4427045
lymph node14 / 91610152
mammary gland28 / 153271182
mouth1 / 6705214
muscle10 / 10771592
nerve0 / 157680 
ovary10 / 10205197
pancreas25 / 214812116
parathyroid11 / 20539535
pharynx6 / 41328145
pituitary gland3 / 16585180
placenta21 / 28082574
prostate12 / 18934563
salivary gland0 / 201550 
skin17 / 21057480
spleen3 / 5395255
stomach6 / 9661962
testis17 / 33044251
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206544_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts99.5
Adipocyte21.55
AdrenalCortex9.2
Adrenalgland6.6
Amygdala63.55
Appendix10
AtrioventricularNode7.45
BDCA4+_DentriticCells34.8
Bonemarrow7.75
BronchialEpithelialCells8.1
CD105+_Endothelial8.7
CD14+_Monocytes13.35
CD19+_BCells(neg._sel.)14.25
CD33+_Myeloid11.2
CD34+57.3
CD4+_Tcells116.25
CD56+_NKCells37
CD71+_EarlyErythroid6.1
CD8+_Tcells92.2
CardiacMyocytes11.3
Caudatenucleus31.1
Cerebellum14.65
CerebellumPeduncles18.8
CiliaryGanglion6.9
CingulateCortex24.35
Colorectaladenocarcinoma7.9
DorsalRootGanglion7
FetalThyroid9.2
Fetalbrain76.55
Fetalliver7.35
Fetallung11.85
GlobusPallidus26.8
Heart11.1
Hypothalamus45.7
Kidney7.25
Leukemia_chronicMyelogenousK-5625.85
Leukemia_promyelocytic-HL-609
Leukemialymphoblastic(MOLT-4)6.4
Liver8.8
Lung8.45
Lymphnode12.4
Lymphoma_burkitts(Daudi)20.75
Lymphoma_burkitts(Raji)10.45
MedullaOblongata16.15
OccipitalLobe50.15
OlfactoryBulb7.85
Ovary6.6
Pancreas7.7
PancreaticIslet22.85
ParietalLobe29.45
Pituitary56
Placenta25.25
Pons8.8
PrefrontalCortex54.45
Prostate9.6
Salivarygland7.3
SkeletalMuscle9.4
Skin7.15
SmoothMuscle10.7
Spinalcord13
SubthalamicNucleus10.2
SuperiorCervicalGanglion10.5
TemporalLobe9
Testis11.95
TestisGermCell69.9
TestisIntersitial79.1
TestisLeydigCell40.1
TestisSeminiferousTubule11.65
Thalamus18.4
Thymus6.65
Thyroid25.45
Tongue7.55
Tonsil19.4
Trachea14.65
TrigeminalGanglion10.5
Uterus19.1
UterusCorpus11.3
WholeBlood28.5
Wholebrain37.05
colon11
pineal_day31.9
pineal_night61.7
retina24.025
small_intestine7.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P252764
  • 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
Amygdala10.07 ± 0.34
Basal Forebrain9.53 ± 0.17
Basal Part of Pons9.69 ± 0.26
Cerebellar Cortex9.22 ± 0.18
Cerebellar Nuclei9.34 ± 0.25
Claustrum10.08 ± 0.35
Epithalamus9.03 ± 0.45
Frontal Lobe9.49 ± 0.31
Globus Pallidus9.62 ± 0.2
Hypothalamus9.37 ± 0.29
Insula9.58 ± 0.3
Limbic Lobe9.63 ± 0.26
Mesencephalon9.5 ± 0.34
Myelencephalon9.52 ± 0.33
Occipital Lobe9.77 ± 0.28
Parietal Lobe9.61 ± 0.35
Pontine Tegmentum9.5 ± 0.29
Striatum9.64 ± 0.29
Subthalamus9.49 ± 0.06
Temporal Lobe9.45 ± 0.33
Thalamus9.47 ± 0.21
White Matter9.09 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarca2CBCerebellum100
100
Smarca2CTXCerebral cortex100
100
Smarca2HIPHippocampal region100
100
Smarca2HPFHippocampal formation100
100
Smarca2HYHypothalamus100
100
Smarca2LSXLateral septal complex100
100
Smarca2MBMidbrain100
100
Smarca2MYMedulla100
100
Smarca2OLFOlfactory bulb100
100
Smarca2PPons100
100
Smarca2PALPallidum100
98.75
Smarca2RHPRetrohippocampal region100
100
Smarca2sAMYStriatum-like amygdalar nuclei100
97.86
Smarca2STRStriatum100
100
Smarca2STRdStriatum dorsal region100
100
Smarca2STRvStriatum ventral region100
100
Smarca2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002909 12 84 95 GIVEDIHCGSMK Peptide Atlas
SMCA2_HUMAN_1418 12 1418 1429 QLSEVFIQLPSR 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


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