AutismKB 2.0

Annotation Detail for SMARCC1


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Basic Information Top
Gene Symbol:SMARCC1 ( BAF155,CRACC1,Rsc8,SRG3,SWI3 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
Band: 3p21.31
Quick LinksEntrez ID:6599; OMIM: 601732; Uniprot ID:SMRC1_HUMAN; ENSEMBL ID: ENSG00000173473; HGNC ID: 11104
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 body20 / 70761282
blastocyst18 / 62319288
fetus53 / 56401293
neonate0 / 310970 
infant1 / 2362042
juvenile9 / 55556161
adult216 / 1939121111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma7 / 17475400
breast (mammary gland) tumor14 / 94178148
cervical tumor8 / 34366232
chondrosarcoma6 / 8282372
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor81 / 263845306
glioma13 / 106883121
head and neck tumor16 / 136302117
kidney tumor7 / 68959101
leukemia10 / 95842104
liver tumor12 / 96359124
lung tumor5 / 10312748
lymphoma9 / 71755125
non-neoplasia5 / 9725051
normal268 / 336030779
ovarian tumor2 / 7668226
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer15 / 102680146
retinoblastoma13 / 46356280
skin tumor11 / 12494988
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites4 / 4001599
bladder11 / 29757369
blood11 / 12347889
bone4 / 7165555
bone marrow3 / 4880161
brain37 / 110098933
cervix8 / 48171166
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue61 / 215722282
esophagus0 / 202090 
eye21 / 21105499
heart8 / 8962689
intestine22 / 23447293
kidney13 / 21177761
larynx6 / 24145248
liver16 / 20774377
lung29 / 33697486
lymph6 / 44270135
lymph node23 / 91610251
mammary gland23 / 153271150
mouth9 / 67052134
muscle12 / 107715111
nerve2 / 15768126
ovary11 / 102051107
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta24 / 28082585
prostate22 / 189345116
salivary gland3 / 20155148
skin16 / 21057475
spleen0 / 539520 
stomach5 / 9661951
testis63 / 330442190
thymus5 / 8113161
thyroid7 / 47473147
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus33 / 232878141
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201074_at
Cell line Expression level Expression bar
721_B_lymphoblasts258.55
Adipocyte12.8
AdrenalCortex18.15
Adrenalgland13.95
Amygdala12.8
Appendix23.35
AtrioventricularNode16.25
BDCA4+_DentriticCells56.7
Bonemarrow22.6
BronchialEpithelialCells40.85
CD105+_Endothelial108.7
CD14+_Monocytes33.65
CD19+_BCells(neg._sel.)120
CD33+_Myeloid27
CD34+242.65
CD4+_Tcells64.2
CD56+_NKCells109.2
CD71+_EarlyErythroid17.5
CD8+_Tcells68.05
CardiacMyocytes31.8
Caudatenucleus12.1
Cerebellum10.8
CerebellumPeduncles15.95
CiliaryGanglion14.3
CingulateCortex12.8
Colorectaladenocarcinoma65.05
DorsalRootGanglion12.75
FetalThyroid30.15
Fetalbrain27.3
Fetalliver24.85
Fetallung23.45
GlobusPallidus9.65
Heart12.1
Hypothalamus13.8
Kidney14.7
Leukemia_chronicMyelogenousK-562105.75
Leukemia_promyelocytic-HL-6081.25
Leukemialymphoblastic(MOLT-4)144
Liver16.85
Lung19.55
Lymphnode26.55
Lymphoma_burkitts(Daudi)150.9
Lymphoma_burkitts(Raji)75.2
MedullaOblongata12.1
OccipitalLobe12.15
OlfactoryBulb18.85
Ovary12.8
Pancreas19.95
PancreaticIslet35.35
ParietalLobe16.6
Pituitary26.65
Placenta60
Pons12.45
PrefrontalCortex25
Prostate50.45
Salivarygland17.9
SkeletalMuscle18.9
Skin17.9
SmoothMuscle36.45
Spinalcord23.15
SubthalamicNucleus12.45
SuperiorCervicalGanglion21.5
TemporalLobe11.3
Testis18.45
TestisGermCell26.2
TestisIntersitial15.55
TestisLeydigCell19.1
TestisSeminiferousTubule27.7
Thalamus13.9
Thymus65.35
Thyroid38.65
Tongue14.9
Tonsil38.65
Trachea24.35
TrigeminalGanglion15.9
Uterus38.5
UterusCorpus15.4
WholeBlood28.95
Wholebrain9.65
colon28.3
pineal_day18.22
pineal_night19.7
retina35
small_intestine53.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P112104
  • 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
Amygdala7.36 ± 0.36
Basal Forebrain7.52 ± 0.35
Basal Part of Pons6.82 ± 0.23
Cerebellar Cortex7.14 ± 0.17
Cerebellar Nuclei7.25 ± 0.29
Claustrum7.35 ± 0.49
Epithalamus7.19 ± 0.33
Frontal Lobe6.95 ± 0.3
Globus Pallidus8.2 ± 0.19
Hypothalamus6.99 ± 0.16
Insula6.98 ± 0.3
Limbic Lobe7.15 ± 0.44
Mesencephalon7.35 ± 0.32
Myelencephalon7.21 ± 0.44
Occipital Lobe7.55 ± 0.41
Parietal Lobe7.18 ± 0.39
Pontine Tegmentum7.18 ± 0.32
Striatum7.57 ± 0.47
Subthalamus6.89 ± 0.9
Temporal Lobe7.09 ± 0.31
Thalamus7.16 ± 0.28
White Matter8.4 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarcc1CBCerebellum25
32.12
Smarcc1CTXCerebral cortex83.72
66.87
Smarcc1HIPHippocampal region46.11
66.14
Smarcc1HPFHippocampal formation56.27
63.3
Smarcc1HYHypothalamus19.88
16.16
Smarcc1LSXLateral septal complex16.19
11.18
Smarcc1MBMidbrain22.64
21.58
Smarcc1MYMedulla28.6
30.49
Smarcc1OLFOlfactory bulb66.06
56.17
Smarcc1PPons25.56
27.04
Smarcc1PALPallidum25.47
22.45
Smarcc1RHPRetrohippocampal region70.31
59.43
Smarcc1sAMYStriatum-like amygdalar nuclei57.41
41.1
Smarcc1STRStriatum59.86
44.53
Smarcc1STRdStriatum dorsal region65.83
49.89
Smarcc1STRvStriatum ventral region63.37
44.46
Smarcc1THThalamus22.47
18.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000352 14 114 127 AGGALCHILGAAYK Peptide Atlas
SMRC1_HUMAN_2 31 2 32 AAAAGGGGPGTAVGATGSGIAAAAAGLAVYR PRIDE
SMRC1_HUMAN_545 28 545 572 PMAMGPPPTPHFNVLADTPSGLVPLHLR 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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