AutismKB 2.0

Annotation Detail for SMARCD1


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Basic Information Top
Gene Symbol:SMARCD1 ( BAF60A,CRACD1,Rsc6p )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Band: 12q13.12
Quick LinksEntrez ID:6602; OMIM: 601735; Uniprot ID:SMRD1_HUMAN; ENSEMBL ID: ENSG00000066117; HGNC ID: 11106
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 body7 / 7076198
blastocyst17 / 62319272
fetus30 / 56401253
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult115 / 193912159
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) tumor6 / 9417863
cervical tumor7 / 34366203
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor47 / 263845178
glioma18 / 106883168
head and neck tumor2 / 13630214
kidney tumor8 / 68959116
leukemia8 / 9584283
liver tumor8 / 9635983
lung tumor15 / 103127145
lymphoma7 / 7175597
non-neoplasia4 / 9725041
normal149 / 336030744
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer3 / 10268029
retinoblastoma5 / 46356107
skin tumor17 / 124949136
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites5 / 40015124
bladder1 / 2975733
blood7 / 12347856
bone4 / 7165555
bone marrow1 / 4880120
brain56 / 110098950
cervix8 / 48171166
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue34 / 215722157
esophagus0 / 202090 
eye13 / 21105461
heart5 / 8962655
intestine11 / 23447246
kidney15 / 21177770
larynx0 / 241450 
liver8 / 20774338
lung21 / 33697462
lymph3 / 4427067
lymph node3 / 9161032
mammary gland9 / 15327158
mouth1 / 6705214
muscle3 / 10771527
nerve2 / 15768126
ovary12 / 102051117
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate4 / 18934521
salivary gland0 / 201550 
skin21 / 21057499
spleen1 / 5395218
stomach1 / 9661910
testis39 / 330442118
thymus11 / 81131135
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203183_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.05
Adipocyte7.95
AdrenalCortex7.3
Adrenalgland6.15
Amygdala6.55
Appendix10.35
AtrioventricularNode7
BDCA4+_DentriticCells7.45
Bonemarrow7.15
BronchialEpithelialCells7.4
CD105+_Endothelial6.1
CD14+_Monocytes7.35
CD19+_BCells(neg._sel.)10.75
CD33+_Myeloid8.8
CD34+8.5
CD4+_Tcells7.2
CD56+_NKCells7.55
CD71+_EarlyErythroid5.85
CD8+_Tcells6.45
CardiacMyocytes8.5
Caudatenucleus6.85
Cerebellum8.85
CerebellumPeduncles7.8
CiliaryGanglion4.85
CingulateCortex7.4
Colorectaladenocarcinoma9.45
DorsalRootGanglion5.95
FetalThyroid8.45
Fetalbrain7.35
Fetalliver5.85
Fetallung5.45
GlobusPallidus4.85
Heart8.9
Hypothalamus6.85
Kidney6.35
Leukemia_chronicMyelogenousK-5626.6
Leukemia_promyelocytic-HL-6010.7
Leukemialymphoblastic(MOLT-4)38.35
Liver9
Lung7.3
Lymphnode9.55
Lymphoma_burkitts(Daudi)12.35
Lymphoma_burkitts(Raji)16.2
MedullaOblongata7.1
OccipitalLobe6.55
OlfactoryBulb5.7
Ovary5.85
Pancreas5.15
PancreaticIslet6.9
ParietalLobe8.95
Pituitary10.2
Placenta6.8
Pons6.5
PrefrontalCortex9.75
Prostate8
Salivarygland5.6
SkeletalMuscle8.15
Skin9.35
SmoothMuscle8.4
Spinalcord7.5
SubthalamicNucleus6.35
SuperiorCervicalGanglion15.35
TemporalLobe7.25
Testis5.9
TestisGermCell5.9
TestisIntersitial5.9
TestisLeydigCell7.1
TestisSeminiferousTubule11.95
Thalamus7.05
Thymus6.35
Thyroid8.25
Tongue9.25
Tonsil6.85
Trachea7.1
TrigeminalGanglion7.25
Uterus5.75
UterusCorpus6.25
WholeBlood7.35
Wholebrain5
colon6.1
pineal_day8.4
pineal_night7.74
retina7.85
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P204745
  • 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
Amygdala5.87 ± 0.51
Basal Forebrain5.92 ± 0.33
Basal Part of Pons5.81 ± 0.33
Cerebellar Cortex5.74 ± 0.36
Cerebellar Nuclei5.91 ± 0.47
Claustrum6.03 ± 0.47
Epithalamus5.74 ± 0.31
Frontal Lobe5.65 ± 0.4
Globus Pallidus5.68 ± 0.47
Hypothalamus5.68 ± 0.46
Insula5.76 ± 0.36
Limbic Lobe5.89 ± 0.37
Mesencephalon5.74 ± 0.48
Myelencephalon5.77 ± 0.44
Occipital Lobe5.96 ± 0.37
Parietal Lobe5.79 ± 0.36
Pontine Tegmentum5.79 ± 0.46
Striatum6.2 ± 0.36
Subthalamus5.41 ± 0.35
Temporal Lobe5.81 ± 0.36
Thalamus5.77 ± 0.38
White Matter6.83 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarcd1CBCerebellum100
100
Smarcd1CTXCerebral cortex100
100
Smarcd1HIPHippocampal region100
100
Smarcd1HPFHippocampal formation100
100
Smarcd1HYHypothalamus71.23
58.83
Smarcd1LSXLateral septal complex100
95.71
Smarcd1MBMidbrain82.29
76.39
Smarcd1MYMedulla67.58
75.34
Smarcd1OLFOlfactory bulb100
100
Smarcd1PPons74.03
76.97
Smarcd1PALPallidum79.92
73.17
Smarcd1RHPRetrohippocampal region100
100
Smarcd1sAMYStriatum-like amygdalar nuclei95.1
75.63
Smarcd1STRStriatum100
100
Smarcd1STRdStriatum dorsal region100
100
Smarcd1STRvStriatum ventral region100
100
Smarcd1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00066505 17 139 155 ELVPESQAYMDLLAFER 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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