AutismKB 2.0

Annotation Detail for SMCHD1


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Basic Information Top
Gene Symbol:SMCHD1 ( DKFZp686O0631,KIAA0650 )
Gene Full Name: structural maintenance of chromosomes flexible hinge domain containing 1
Band: 18p11.32
Quick LinksEntrez ID:23347; OMIM: NA; Uniprot ID:SMHD1_HUMAN; ENSEMBL ID: ENSG00000101596; HGNC ID: 29090
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 body6 / 7076184
blastocyst6 / 6231996
fetus25 / 56401244
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult99 / 193912151
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal162 / 336030748
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood11 / 12347889
bone4 / 7165555
bone marrow0 / 488010 
brain12 / 110098910
cervix2 / 4817141
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye21 / 21105499
heart1 / 8962611
intestine9 / 23447238
kidney5 / 21177723
larynx0 / 241450 
liver11 / 20774352
lung14 / 33697441
lymph0 / 442700 
lymph node19 / 91610207
mammary gland8 / 15327152
mouth4 / 6705259
muscle4 / 10771537
nerve1 / 1576863
ovary3 / 10205129
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta6 / 28082521
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach14 / 96619144
testis13 / 33044239
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus14 / 23287860
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212569_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.55
Adipocyte13.25
AdrenalCortex26.45
Adrenalgland13.85
Amygdala13.45
Appendix27.9
AtrioventricularNode25.25
BDCA4+_DentriticCells38.25
Bonemarrow17.4
BronchialEpithelialCells13.1
CD105+_Endothelial34
CD14+_Monocytes37.4
CD19+_BCells(neg._sel.)105.9
CD33+_Myeloid63.4
CD34+29.2
CD4+_Tcells57.15
CD56+_NKCells70.35
CD71+_EarlyErythroid15.95
CD8+_Tcells133.25
CardiacMyocytes39.85
Caudatenucleus13.1
Cerebellum12.1
CerebellumPeduncles19.15
CiliaryGanglion23.5
CingulateCortex15.35
Colorectaladenocarcinoma14.9
DorsalRootGanglion17.25
FetalThyroid17.2
Fetalbrain14.15
Fetalliver13.9
Fetallung10.6
GlobusPallidus13
Heart26.55
Hypothalamus14.65
Kidney14.6
Leukemia_chronicMyelogenousK-56218.95
Leukemia_promyelocytic-HL-6025.9
Leukemialymphoblastic(MOLT-4)11.45
Liver25
Lung14.8
Lymphnode38.3
Lymphoma_burkitts(Daudi)43.45
Lymphoma_burkitts(Raji)25.75
MedullaOblongata12.1
OccipitalLobe13
OlfactoryBulb11.4
Ovary13.85
Pancreas14.05
PancreaticIslet17.75
ParietalLobe19.35
Pituitary17.6
Placenta12
Pons16.8
PrefrontalCortex15.7
Prostate17.45
Salivarygland14.7
SkeletalMuscle34.95
Skin24.35
SmoothMuscle16.75
Spinalcord16.1
SubthalamicNucleus16.05
SuperiorCervicalGanglion43.45
TemporalLobe14.75
Testis11.7
TestisGermCell11.8
TestisIntersitial13.05
TestisLeydigCell17.55
TestisSeminiferousTubule13.6
Thalamus15.4
Thymus10.75
Thyroid16.95
Tongue25.45
Tonsil20.5
Trachea12.2
TrigeminalGanglion45.4
Uterus26.7
UterusCorpus17.55
WholeBlood470.45
Wholebrain9.45
colon15.65
pineal_day19.76
pineal_night19.08
retina17.575
small_intestine14
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P38723
  • 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
Amygdala6.31 ± 0.34
Basal Forebrain6.46 ± 0.24
Basal Part of Pons6.28 ± 0.25
Cerebellar Cortex6.65 ± 0.53
Cerebellar Nuclei6.56 ± 0.27
Claustrum6.52 ± 0.47
Epithalamus6.78 ± 0.41
Frontal Lobe6.39 ± 0.35
Globus Pallidus6.73 ± 0.35
Hypothalamus6.48 ± 0.53
Insula6.49 ± 0.21
Limbic Lobe6.44 ± 0.33
Mesencephalon6.69 ± 0.31
Myelencephalon6.5 ± 0.42
Occipital Lobe6.91 ± 0.33
Parietal Lobe6.53 ± 0.26
Pontine Tegmentum6.59 ± 0.33
Striatum6.55 ± 0.22
Subthalamus6.74 ± 0.26
Temporal Lobe6.47 ± 0.37
Thalamus6.56 ± 0.32
White Matter7.37 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smchd1CBCerebellum41.39
52.74
Smchd1CTXCerebral cortex100
84.89
Smchd1HIPHippocampal region61.01
96.19
Smchd1HPFHippocampal formation68.14
80.54
Smchd1HYHypothalamus28.11
22.17
Smchd1LSXLateral septal complex50.38
35.96
Smchd1MBMidbrain48.2
43.87
Smchd1MYMedulla47.6
49.76
Smchd1OLFOlfactory bulb86.14
74.97
Smchd1PPons38.31
39.61
Smchd1PALPallidum42.43
38.44
Smchd1RHPRetrohippocampal region79.54
64.2
Smchd1sAMYStriatum-like amygdalar nuclei64.41
46.02
Smchd1STRStriatum70.25
51.17
Smchd1STRdStriatum dorsal region71.31
52.52
Smchd1STRvStriatum ventral region72.52
51.02
Smchd1THThalamus69.23
61.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003881 14 1436 1449 IKDNDKEDGCFYFR 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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