AutismKB 2.0

Annotation Detail for SMARCE1


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Basic Information Top
Gene Symbol:SMARCE1 ( BAF57 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Band: 17q21.2
Quick LinksEntrez ID:6605; OMIM: 603111; Uniprot ID:SMCE1_HUMAN; ENSEMBL ID: ENSG00000073584; HGNC ID: 11109
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 body16 / 70761226
blastocyst10 / 62319160
fetus107 / 564012189
neonate5 / 31097160
infant1 / 2362042
juvenile14 / 55556251
adult209 / 1939121107
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor6 / 34366174
chondrosarcoma12 / 82823144
colorectal tumor8 / 11424670
esophageal tumor4 / 17290231
gastrointestinal tumor13 / 119369108
germ cell tumor54 / 263845204
glioma5 / 10688346
head and neck tumor18 / 136302132
kidney tumor8 / 68959116
leukemia15 / 95842156
liver tumor4 / 9635941
lung tumor5 / 10312748
lymphoma11 / 71755153
non-neoplasia11 / 97250113
normal431 / 3360307128
ovarian tumor6 / 7668278
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer20 / 102680194
retinoblastoma8 / 46356172
skin tumor9 / 12494972
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites5 / 40015124
bladder3 / 29757100
blood25 / 123478202
bone9 / 71655125
bone marrow3 / 4880161
brain159 / 1100989144
cervix6 / 48171124
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue47 / 215722217
esophagus4 / 20209197
eye27 / 211054127
heart6 / 8962666
intestine16 / 23447268
kidney34 / 211777160
larynx1 / 2414541
liver6 / 20774328
lung34 / 336974100
lymph5 / 44270112
lymph node13 / 91610141
mammary gland17 / 153271110
mouth14 / 67052208
muscle7 / 10771564
nerve2 / 15768126
ovary6 / 10205158
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland1 / 1658560
placenta39 / 280825138
prostate30 / 189345158
salivary gland3 / 20155148
skin21 / 21057499
spleen17 / 53952315
stomach11 / 96619113
testis25 / 33044275
thymus13 / 81131160
thyroid6 / 47473126
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord1 / 1368073
uterus41 / 232878176
vascular17 / 51780328
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211988_at
Cell line Expression level Expression bar
721_B_lymphoblasts295.5
Adipocyte299.35
AdrenalCortex89.9
Adrenalgland106.2
Amygdala204.3
Appendix184.5
AtrioventricularNode54
BDCA4+_DentriticCells396.65
Bonemarrow70
BronchialEpithelialCells160
CD105+_Endothelial338.5
CD14+_Monocytes177.55
CD19+_BCells(neg._sel.)464.8
CD33+_Myeloid309.85
CD34+227.1
CD4+_Tcells455.9
CD56+_NKCells414.75
CD71+_EarlyErythroid138.45
CD8+_Tcells506.1
CardiacMyocytes225.85
Caudatenucleus106.8
Cerebellum57.05
CerebellumPeduncles95.1
CiliaryGanglion83.8
CingulateCortex90.95
Colorectaladenocarcinoma178.95
DorsalRootGanglion94.55
FetalThyroid179.65
Fetalbrain293.8
Fetalliver161.9
Fetallung214.65
GlobusPallidus65.1
Heart90.1
Hypothalamus225.2
Kidney69.5
Leukemia_chronicMyelogenousK-562168.8
Leukemia_promyelocytic-HL-60193.05
Leukemialymphoblastic(MOLT-4)336.5
Liver83
Lung76.85
Lymphnode248.5
Lymphoma_burkitts(Daudi)239.85
Lymphoma_burkitts(Raji)165.1
MedullaOblongata158.05
OccipitalLobe123.15
OlfactoryBulb172.1
Ovary127.65
Pancreas99.25
PancreaticIslet216.05
ParietalLobe116.35
Pituitary171.8
Placenta138.35
Pons98.85
PrefrontalCortex203.9
Prostate246.65
Salivarygland108.1
SkeletalMuscle112.4
Skin121.7
SmoothMuscle226.5
Spinalcord189.35
SubthalamicNucleus59
SuperiorCervicalGanglion117.2
TemporalLobe82.7
Testis74.15
TestisGermCell156.65
TestisIntersitial70.45
TestisLeydigCell88.9
TestisSeminiferousTubule78.3
Thalamus106.3
Thymus197.35
Thyroid236.45
Tongue103.1
Tonsil177.65
Trachea170.35
TrigeminalGanglion125.3
Uterus483.2
UterusCorpus189.4
WholeBlood339.6
Wholebrain102.6
colon366.15
pineal_day284.08
pineal_night312.3
retina230.95
small_intestine517.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P333063
  • 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
Amygdala6.49 ± 0.23
Basal Forebrain6.48 ± 0.1
Basal Part of Pons6.59 ± 0.16
Cerebellar Cortex6.41 ± 0.25
Cerebellar Nuclei6.42 ± 0.3
Claustrum6.64 ± 0.39
Epithalamus6.78 ± 0.23
Frontal Lobe6.35 ± 0.32
Globus Pallidus6.71 ± 0.13
Hypothalamus6.13 ± 0.19
Insula6.51 ± 0.36
Limbic Lobe6.61 ± 0.33
Mesencephalon6.41 ± 0.38
Myelencephalon6.48 ± 0.35
Occipital Lobe6.67 ± 0.32
Parietal Lobe6.54 ± 0.32
Pontine Tegmentum6.53 ± 0.31
Striatum6.9 ± 0.26
Subthalamus6.4 ± 0.03
Temporal Lobe6.48 ± 0.3
Thalamus6.45 ± 0.31
White Matter7.34 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarce1CBCerebellum34.84
55.28
Smarce1CTXCerebral cortex36.2
29.42
Smarce1HIPHippocampal region35.65
49.51
Smarce1HPFHippocampal formation46.98
55.08
Smarce1HYHypothalamus4.01
3.14
Smarce1LSXLateral septal complex3.17
2.08
Smarce1MBMidbrain4.61
4.35
Smarce1MYMedulla9.97
11.34
Smarce1OLFOlfactory bulb35.61
33.41
Smarce1PPons8.76
9.4
Smarce1PALPallidum5.23
4.49
Smarce1RHPRetrohippocampal region65.72
62.94
Smarce1sAMYStriatum-like amygdalar nuclei15.4
12.6
Smarce1STRStriatum22.47
17.42
Smarce1STRdStriatum dorsal region29.16
23.11
Smarce1STRvStriatum ventral region11.66
7.83
Smarce1THThalamus5.93
5.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064370 15 132 146 AYHNSPAYLAYINAK 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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