AutismKB 2.0

Annotation Detail for SMARCD3


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Basic Information Top
Gene Symbol:SMARCD3 ( BAF60C,CRACD3,MGC111010,Rsc6p )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
Band: 7q36.1
Quick LinksEntrez ID:6604; OMIM: 601737; Uniprot ID:SMRD3_HUMAN; ENSEMBL ID: ENSG00000082014; HGNC ID: 11108
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 body0 / 707610 
blastocyst0 / 623190 
fetus53 / 56401293
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult78 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor8 / 26384530
glioma25 / 106883233
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal139 / 336030741
ovarian tumor17 / 76682221
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain105 / 110098995
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart17 / 89626189
intestine5 / 23447221
kidney6 / 21177728
larynx0 / 241450 
liver6 / 20774328
lung8 / 33697423
lymph3 / 4427067
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle12 / 107715111
nerve3 / 15768190
ovary15 / 102051146
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate8 / 18934542
salivary gland1 / 2015549
skin0 / 2105740 
spleen0 / 539520 
stomach8 / 9661982
testis11 / 33044233
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204099_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.8
Adipocyte5.2
AdrenalCortex8.2
Adrenalgland9.6
Amygdala53.95
Appendix4.7
AtrioventricularNode3.55
BDCA4+_DentriticCells4.85
Bonemarrow4.55
BronchialEpithelialCells4.7
CD105+_Endothelial4.7
CD14+_Monocytes83.3
CD19+_BCells(neg._sel.)5
CD33+_Myeloid54.65
CD34+5.9
CD4+_Tcells5.1
CD56+_NKCells5.5
CD71+_EarlyErythroid4.35
CD8+_Tcells4.55
CardiacMyocytes5.95
Caudatenucleus61.8
Cerebellum9.4
CerebellumPeduncles42.35
CiliaryGanglion3.3
CingulateCortex34.6
Colorectaladenocarcinoma4.75
DorsalRootGanglion3.55
FetalThyroid4.85
Fetalbrain121.9
Fetalliver4.05
Fetallung7.95
GlobusPallidus7.4
Heart80.4
Hypothalamus46.65
Kidney3.7
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.7
Liver6.2
Lung12.25
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.05
Lymphoma_burkitts(Raji)6.45
MedullaOblongata35.6
OccipitalLobe28.55
OlfactoryBulb8.6
Ovary3.15
Pancreas3.75
PancreaticIslet36.25
ParietalLobe9.55
Pituitary8.8
Placenta4.75
Pons21.05
PrefrontalCortex96.05
Prostate13.7
Salivarygland3.75
SkeletalMuscle5.4
Skin3.55
SmoothMuscle5.45
Spinalcord16.4
SubthalamicNucleus11.85
SuperiorCervicalGanglion5.15
TemporalLobe45.45
Testis6.25
TestisGermCell9.25
TestisIntersitial4.1
TestisLeydigCell4.7
TestisSeminiferousTubule6.5
Thalamus56.2
Thymus3.65
Thyroid11.15
Tongue4.55
Tonsil4.55
Trachea3.9
TrigeminalGanglion4.65
Uterus4.9
UterusCorpus4.1
WholeBlood11.5
Wholebrain91.9
colon4.7
pineal_day10.9
pineal_night13.2
retina28.025
small_intestine4.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8949_PI416261804
  • 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
Amygdala8.63 ± 0.47
Basal Forebrain8.95 ± 0.43
Basal Part of Pons8.65 ± 0.4
Cerebellar Cortex8.36 ± 0.21
Cerebellar Nuclei8.2 ± 0.42
Claustrum8.5 ± 0.45
Epithalamus8.41 ± 0.29
Frontal Lobe8.67 ± 0.31
Globus Pallidus7.99 ± 0.47
Hypothalamus8.88 ± 0.3
Insula8.9 ± 0.22
Limbic Lobe8.58 ± 0.51
Mesencephalon8.4 ± 0.39
Myelencephalon8.52 ± 0.46
Occipital Lobe7.94 ± 0.39
Parietal Lobe8.36 ± 0.35
Pontine Tegmentum8.46 ± 0.46
Striatum9 ± 0.42
Subthalamus8.58 ± 0.45
Temporal Lobe8.63 ± 0.37
Thalamus8.49 ± 0.34
White Matter6.85 ± 0.23
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00066505 17 114 130 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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