AutismKB 2.0

Annotation Detail for SMARCB1


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Basic Information Top
Gene Symbol:SMARCB1 ( BAF47,INI1,RDT,RTPS1,SNF5,SNF5L1,Sfh1p,Snr1,hSNFS )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Band: 22q11.23
Quick LinksEntrez ID:6598; OMIM: 601607; Uniprot ID:SNF5_HUMAN; ENSEMBL ID: ENSG00000099956; HGNC ID: 11103
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
blastocyst5 / 6231980
fetus60 / 564012106
neonate0 / 310970 
infant1 / 2362042
juvenile18 / 55556323
adult174 / 193912189
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor12 / 114246105
esophageal tumor3 / 17290173
gastrointestinal tumor9 / 11936975
germ cell tumor15 / 26384556
glioma9 / 10688384
head and neck tumor21 / 136302154
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor6 / 9635962
lung tumor10 / 10312796
lymphoma55 / 71755766
non-neoplasia0 / 972500 
normal232 / 336030769
ovarian tumor5 / 7668265
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS37 / 125680294
prostate cancer5 / 10268048
retinoblastoma9 / 46356194
skin tumor5 / 12494940
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites2 / 4001549
bladder2 / 2975767
blood10 / 12347880
bone9 / 71655125
bone marrow1 / 4880120
brain60 / 110098954
cervix2 / 4817141
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus3 / 20209148
eye31 / 211054146
heart5 / 8962655
intestine21 / 23447289
kidney4 / 21177718
larynx11 / 24145455
liver9 / 20774343
lung37 / 336974109
lymph42 / 44270948
lymph node8 / 9161087
mammary gland16 / 153271104
mouth4 / 6705259
muscle7 / 10771564
nerve1 / 1576863
ovary10 / 10205197
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta46 / 280825163
prostate12 / 18934563
salivary gland3 / 20155148
skin6 / 21057428
spleen1 / 5395218
stomach8 / 9661982
testis13 / 33044239
thymus7 / 8113186
thyroid4 / 4747384
tonsil6 / 16999352
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212167_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts80.85
Adipocyte21.15
AdrenalCortex25.65
Adrenalgland20.4
Amygdala28.75
Appendix17.85
AtrioventricularNode10.15
BDCA4+_DentriticCells135.85
Bonemarrow24.8
BronchialEpithelialCells34.25
CD105+_Endothelial28.95
CD14+_Monocytes48.2
CD19+_BCells(neg._sel.)231.65
CD33+_Myeloid34.45
CD34+57.2
CD4+_Tcells24.45
CD56+_NKCells35.45
CD71+_EarlyErythroid12.9
CD8+_Tcells21.65
CardiacMyocytes31.5
Caudatenucleus21
Cerebellum24.05
CerebellumPeduncles44.45
CiliaryGanglion4.05
CingulateCortex20.35
Colorectaladenocarcinoma65.55
DorsalRootGanglion13.1
FetalThyroid28.4
Fetalbrain38.8
Fetalliver17.9
Fetallung21.35
GlobusPallidus12.7
Heart51.05
Hypothalamus24.65
Kidney18.4
Leukemia_chronicMyelogenousK-56222.65
Leukemia_promyelocytic-HL-6030.85
Leukemialymphoblastic(MOLT-4)64.65
Liver41.4
Lung25.8
Lymphnode27.1
Lymphoma_burkitts(Daudi)83.6
Lymphoma_burkitts(Raji)52.5
MedullaOblongata21.75
OccipitalLobe21.55
OlfactoryBulb19.95
Ovary14.8
Pancreas18.75
PancreaticIslet24.35
ParietalLobe25.9
Pituitary27.45
Placenta82
Pons23.45
PrefrontalCortex26.95
Prostate30.1
Salivarygland16.2
SkeletalMuscle33.75
Skin16.5
SmoothMuscle24.7
Spinalcord30.65
SubthalamicNucleus22.95
SuperiorCervicalGanglion15.9
TemporalLobe26.05
Testis48.7
TestisGermCell54.15
TestisIntersitial23.6
TestisLeydigCell29.75
TestisSeminiferousTubule45.7
Thalamus24.2
Thymus32.4
Thyroid53.9
Tongue24.5
Tonsil57.05
Trachea19.15
TrigeminalGanglion11.25
Uterus17.6
UterusCorpus41.1
WholeBlood25.25
Wholebrain20.95
colon37.7
pineal_day101.58
pineal_night99.14
retina27.85
small_intestine30.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16029_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
Amygdala4.36 ± 0.55
Basal Forebrain3.97 ± 0.26
Basal Part of Pons4.12 ± 0.59
Cerebellar Cortex4.45 ± 0.33
Cerebellar Nuclei3.91 ± 0.58
Claustrum4.2 ± 0.57
Epithalamus3.9 ± 0.43
Frontal Lobe3.94 ± 0.44
Globus Pallidus3.91 ± 0.63
Hypothalamus4.09 ± 0.32
Insula4.07 ± 0.4
Limbic Lobe4.12 ± 0.5
Mesencephalon4.05 ± 0.51
Myelencephalon4.05 ± 0.53
Occipital Lobe4 ± 0.42
Parietal Lobe4.15 ± 0.5
Pontine Tegmentum4.05 ± 0.4
Striatum3.89 ± 0.41
Subthalamus4.08 ± 0.32
Temporal Lobe4.07 ± 0.44
Thalamus3.94 ± 0.53
White Matter4.47 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarcb1CBCerebellum43.53
69.21
Smarcb1CTXCerebral cortex100
100
Smarcb1HIPHippocampal region100
100
Smarcb1HPFHippocampal formation100
100
Smarcb1HYHypothalamus100
100
Smarcb1LSXLateral septal complex100
100
Smarcb1MBMidbrain89
93.2
Smarcb1MYMedulla53.84
65.74
Smarcb1OLFOlfactory bulb100
100
Smarcb1PPons68.98
81.24
Smarcb1PALPallidum100
100
Smarcb1RHPRetrohippocampal region100
100
Smarcb1sAMYStriatum-like amygdalar nuclei100
100
Smarcb1STRStriatum100
100
Smarcb1STRdStriatum dorsal region100
100
Smarcb1STRvStriatum ventral region100
100
Smarcb1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005978 26 128 153 NSQWVPTLPNSSHHLDAVPCSTTINR 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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