AutismKB 2.0

Annotation Detail for SMARCC2


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Basic Information Top
Gene Symbol:SMARCC2 ( BAF170,CRACC2,DKFZp313D0632,Rsc8 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Band: 12q13.2
Quick LinksEntrez ID:6601; OMIM: 601734; Uniprot ID:SMRC2_HUMAN; ENSEMBL ID: ENSG00000139613; HGNC ID: 11105
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 body8 / 70761113
blastocyst8 / 62319128
fetus68 / 564012120
neonate1 / 3109732
infant2 / 2362084
juvenile1 / 5555617
adult236 / 1939121121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor14 / 94178148
cervical tumor4 / 34366116
chondrosarcoma3 / 8282336
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor31 / 263845117
glioma18 / 106883168
head and neck tumor31 / 136302227
kidney tumor22 / 68959319
leukemia12 / 95842125
liver tumor6 / 9635962
lung tumor25 / 103127242
lymphoma4 / 7175555
non-neoplasia8 / 9725082
normal361 / 3360307107
ovarian tumor10 / 76682130
pancreatic tumor29 / 104616277
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor17 / 124949136
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood20 / 123478161
bone5 / 7165569
bone marrow1 / 4880120
brain158 / 1100989143
cervix4 / 4817183
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye23 / 211054108
heart7 / 8962678
intestine28 / 234472119
kidney33 / 211777155
larynx4 / 24145165
liver11 / 20774352
lung67 / 336974198
lymph4 / 4427090
lymph node19 / 91610207
mammary gland19 / 153271123
mouth10 / 67052149
muscle8 / 10771574
nerve0 / 157680 
ovary17 / 102051166
pancreas38 / 214812176
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland2 / 16585120
placenta29 / 280825103
prostate7 / 18934536
salivary gland1 / 2015549
skin21 / 21057499
spleen5 / 5395292
stomach3 / 9661931
testis24 / 33044272
thymus17 / 81131209
thyroid22 / 47473463
tonsil6 / 16999352
trachea6 / 52413114
umbilical cord0 / 136800 
uterus35 / 232878150
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201321_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts106.55
Adipocyte33.65
AdrenalCortex51.35
Adrenalgland39.2
Amygdala137.7
Appendix46.1
AtrioventricularNode40.1
BDCA4+_DentriticCells46.9
Bonemarrow36.55
BronchialEpithelialCells29.5
CD105+_Endothelial75.65
CD14+_Monocytes79.75
CD19+_BCells(neg._sel.)79.05
CD33+_Myeloid71.65
CD34+121.9
CD4+_Tcells55.6
CD56+_NKCells128.35
CD71+_EarlyErythroid39.3
CD8+_Tcells91.25
CardiacMyocytes60.7
Caudatenucleus40.25
Cerebellum84.4
CerebellumPeduncles77.4
CiliaryGanglion39.9
CingulateCortex85.5
Colorectaladenocarcinoma86.1
DorsalRootGanglion36.1
FetalThyroid51.15
Fetalbrain64.35
Fetalliver29.1
Fetallung31.55
GlobusPallidus38.35
Heart65
Hypothalamus38.45
Kidney33.3
Leukemia_chronicMyelogenousK-56237.2
Leukemia_promyelocytic-HL-6032.05
Leukemialymphoblastic(MOLT-4)42.5
Liver57.8
Lung83.8
Lymphnode38.7
Lymphoma_burkitts(Daudi)54.25
Lymphoma_burkitts(Raji)112.45
MedullaOblongata51.25
OccipitalLobe49.05
OlfactoryBulb55.1
Ovary34
Pancreas22.25
PancreaticIslet41
ParietalLobe54.9
Pituitary46.15
Placenta45.15
Pons60.7
PrefrontalCortex326.65
Prostate117.45
Salivarygland29.05
SkeletalMuscle76
Skin51.25
SmoothMuscle35.65
Spinalcord50.25
SubthalamicNucleus81.35
SuperiorCervicalGanglion61.8
TemporalLobe48.45
Testis39.6
TestisGermCell40.95
TestisIntersitial36.4
TestisLeydigCell36.8
TestisSeminiferousTubule35.55
Thalamus46.1
Thymus93.15
Thyroid141.15
Tongue48.8
Tonsil48.15
Trachea30.55
TrigeminalGanglion50.55
Uterus92.15
UterusCorpus41.25
WholeBlood38.6
Wholebrain114.7
colon62.3
pineal_day149.16
pineal_night163.84
retina110.2
small_intestine54.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P116682
  • 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
Amygdala4.68 ± 0.44
Basal Forebrain4.91 ± 0.3
Basal Part of Pons4.75 ± 0.56
Cerebellar Cortex4.93 ± 0.4
Cerebellar Nuclei4.42 ± 0.69
Claustrum4.19 ± 0.78
Epithalamus4.85 ± 0.47
Frontal Lobe4.68 ± 0.65
Globus Pallidus4.43 ± 0.22
Hypothalamus4.53 ± 0.46
Insula4.64 ± 0.46
Limbic Lobe4.51 ± 0.46
Mesencephalon4.61 ± 0.6
Myelencephalon4.68 ± 0.5
Occipital Lobe4.47 ± 0.44
Parietal Lobe4.74 ± 0.45
Pontine Tegmentum4.52 ± 0.57
Striatum4.71 ± 0.42
Subthalamus4.79 ± 0.4
Temporal Lobe4.74 ± 0.44
Thalamus4.64 ± 0.42
White Matter4.19 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarcc2CBCerebellum100
100
Smarcc2CTXCerebral cortex100
100
Smarcc2HIPHippocampal region77.55
100
Smarcc2HPFHippocampal formation81.93
100
Smarcc2HYHypothalamus100
91.31
Smarcc2LSXLateral septal complex98.6
79.2
Smarcc2MBMidbrain75.3
75.4
Smarcc2MYMedulla75.69
82.84
Smarcc2OLFOlfactory bulb100
100
Smarcc2PPons69.3
75.58
Smarcc2PALPallidum100
100
Smarcc2RHPRetrohippocampal region91.72
92.11
Smarcc2sAMYStriatum-like amygdalar nuclei100
100
Smarcc2STRStriatum100
91.58
Smarcc2STRdStriatum dorsal region100
94.09
Smarcc2STRvStriatum ventral region94.96
77.36
Smarcc2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000356 14 86 99 AGGSLCHILAAAYK Peptide Atlas
SMRC2_HUMAN_567 12 567 578 EKPTDMQNFGLR 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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