AutismKB 2.0

Annotation Detail for SMARCA4


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Basic Information Top
Gene Symbol:SMARCA4 ( BAF190,BRG1,FLJ39786,RTPS2,SNF2,SNF2-BETA,SNF2L4,SNF2LB,SWI2,hSNF2b )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Band: 19p13.2
Quick LinksEntrez ID:6597; OMIM: 603254; Uniprot ID:SMCA4_HUMAN; ENSEMBL ID: ENSG00000127616; HGNC ID: 11100
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 body22 / 70761310
blastocyst18 / 62319288
fetus108 / 564012191
neonate3 / 3109796
infant4 / 23620169
juvenile9 / 55556161
adult330 / 1939121170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor20 / 94178212
cervical tumor6 / 34366174
chondrosarcoma7 / 8282384
colorectal tumor27 / 114246236
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor82 / 263845310
glioma23 / 106883215
head and neck tumor41 / 136302300
kidney tumor19 / 68959275
leukemia10 / 95842104
liver tumor4 / 9635941
lung tumor41 / 103127397
lymphoma56 / 71755780
non-neoplasia6 / 9725061
normal518 / 3360307154
ovarian tumor32 / 76682417
pancreatic tumor17 / 104616162
primitive neuroectodermal tumor of the CNS42 / 125680334
prostate cancer13 / 102680126
retinoblastoma30 / 46356647
skin tumor32 / 124949256
soft tissue/muscle tissue tumor26 / 125191207
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites9 / 40015224
bladder4 / 29757134
blood13 / 123478105
bone5 / 7165569
bone marrow4 / 4880181
brain163 / 1100989148
cervix11 / 48171228
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue57 / 215722264
esophagus0 / 202090 
eye70 / 211054331
heart21 / 89626234
intestine37 / 234472157
kidney31 / 211777146
larynx27 / 241451118
liver7 / 20774333
lung89 / 336974264
lymph49 / 442701106
lymph node72 / 91610785
mammary gland37 / 153271241
mouth6 / 6705289
muscle15 / 107715139
nerve2 / 15768126
ovary44 / 102051431
pancreas21 / 21481297
parathyroid10 / 20539486
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta34 / 280825121
prostate23 / 189345121
salivary gland2 / 2015599
skin40 / 210574189
spleen3 / 5395255
stomach9 / 9661993
testis51 / 330442154
thymus22 / 81131271
thyroid7 / 47473147
tonsil8 / 16999470
trachea2 / 5241338
umbilical cord17 / 136801242
uterus28 / 232878120
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213720_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts95.5
Adipocyte8.55
AdrenalCortex10.3
Adrenalgland10.7
Amygdala36.4
Appendix8.05
AtrioventricularNode6.8
BDCA4+_DentriticCells25.45
Bonemarrow10
BronchialEpithelialCells20.4
CD105+_Endothelial45.3
CD14+_Monocytes17
CD19+_BCells(neg._sel.)22.15
CD33+_Myeloid33.65
CD34+68.55
CD4+_Tcells24.85
CD56+_NKCells34.3
CD71+_EarlyErythroid17.2
CD8+_Tcells17.05
CardiacMyocytes13.65
Caudatenucleus16.3
Cerebellum16
CerebellumPeduncles14.35
CiliaryGanglion5.85
CingulateCortex14.55
Colorectaladenocarcinoma20.25
DorsalRootGanglion6.75
FetalThyroid9.3
Fetalbrain71.7
Fetalliver9.35
Fetallung14.5
GlobusPallidus6.7
Heart11.4
Hypothalamus32.3
Kidney8.65
Leukemia_chronicMyelogenousK-56264.35
Leukemia_promyelocytic-HL-6083.3
Leukemialymphoblastic(MOLT-4)60.8
Liver9.65
Lung34.35
Lymphnode12.55
Lymphoma_burkitts(Daudi)66
Lymphoma_burkitts(Raji)85.85
MedullaOblongata10.55
OccipitalLobe12.6
OlfactoryBulb8
Ovary6.1
Pancreas9.4
PancreaticIslet12.9
ParietalLobe9.8
Pituitary13.2
Placenta14.25
Pons8.8
PrefrontalCortex42
Prostate39.15
Salivarygland7.4
SkeletalMuscle10.25
Skin5.2
SmoothMuscle14.35
Spinalcord12.95
SubthalamicNucleus8.5
SuperiorCervicalGanglion10.45
TemporalLobe10.7
Testis22.2
TestisGermCell9.9
TestisIntersitial7.95
TestisLeydigCell8.45
TestisSeminiferousTubule8.75
Thalamus21.1
Thymus58.7
Thyroid14.2
Tongue8.9
Tonsil11.1
Trachea8.6
TrigeminalGanglion8.3
Uterus14.1
UterusCorpus7.95
WholeBlood14.25
Wholebrain37.5
colon9.4
pineal_day95.52
pineal_night77.22
retina24.175
small_intestine9.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P39034
  • 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
Amygdala11.56 ± 0.59
Basal Forebrain11.31 ± 0.38
Basal Part of Pons11.13 ± 0.86
Cerebellar Cortex10.95 ± 0.35
Cerebellar Nuclei11.03 ± 0.34
Claustrum12.09 ± 0.82
Epithalamus11.01 ± 0.38
Frontal Lobe11.22 ± 0.45
Globus Pallidus11.67 ± 0.88
Hypothalamus11.01 ± 0.39
Insula11.42 ± 0.48
Limbic Lobe11.49 ± 0.63
Mesencephalon11.45 ± 0.55
Myelencephalon11.31 ± 0.67
Occipital Lobe11.09 ± 0.47
Parietal Lobe11.35 ± 0.55
Pontine Tegmentum11.24 ± 0.6
Striatum11.45 ± 0.75
Subthalamus11.5 ± 0.54
Temporal Lobe11.3 ± 0.56
Thalamus11.01 ± 0.41
White Matter10.76 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarca4CBCerebellum1.74
1.97
Smarca4CTXCerebral cortex4.22
3.43
Smarca4HIPHippocampal region3.65
3.47
Smarca4HPFHippocampal formation3.06
2.71
Smarca4HYHypothalamus0.29
0.37
Smarca4LSXLateral septal complex0.35
0.5
Smarca4MBMidbrain0.88
1.38
Smarca4MYMedulla1.28
1.48
Smarca4OLFOlfactory bulb3.32
3.76
Smarca4PPons0.94
1.55
Smarca4PALPallidum3.62
5.18
Smarca4RHPRetrohippocampal region1.98
1.56
Smarca4sAMYStriatum-like amygdalar nuclei0.29
1.36
Smarca4STRStriatum0.21
0.29
Smarca4STRdStriatum dorsal region0.18
0.17
Smarca4STRvStriatum ventral region0.25
0.21
Smarca4THThalamus1.08
0.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00035138 31 588 618 KAENAEGQTPAIGPDGEPLDETSQMSDLPVK Peptide Atlas
SMCA4_HUMAN_1309 10 1309 1318 HEEEFDLFMR PRIDE
SMCA4_HUMAN_2 12 2 13 STPDPPLGGTPR PRIDE
SMCA4_HUMAN_352 8 352 359 ITPIQKPR 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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