AutismKB 2.0

Annotation Detail for CHD8


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Basic Information Top
Gene Symbol:CHD8 ( DKFZp686N17164,HELSNF1,KIAA1564 )
Gene Full Name: chromodomain helicase DNA binding protein 8
Band: 14q11.2
Quick LinksEntrez ID:57680; OMIM: 610528; Uniprot ID:CHD8_HUMAN; ENSEMBL ID: ENSG00000100888; HGNC ID: 20153
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 body11 / 70761155
blastocyst6 / 6231996
fetus33 / 56401258
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult128 / 193912166
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma11 / 82823132
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor22 / 119369184
germ cell tumor8 / 26384530
glioma8 / 10688374
head and neck tumor8 / 13630258
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor18 / 103127174
lymphoma6 / 7175583
non-neoplasia3 / 9725030
normal184 / 336030754
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor9 / 12519171
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
ascites18 / 40015449
bladder2 / 2975767
blood2 / 12347816
bone2 / 7165527
bone marrow5 / 48801102
brain54 / 110098949
cervix2 / 4817141
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye18 / 21105485
heart4 / 8962644
intestine10 / 23447242
kidney5 / 21177723
larynx1 / 2414541
liver12 / 20774357
lung32 / 33697494
lymph4 / 4427090
lymph node10 / 91610109
mammary gland4 / 15327126
mouth3 / 6705244
muscle7 / 10771564
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta8 / 28082528
prostate10 / 18934552
salivary gland0 / 201550 
skin10 / 21057447
spleen7 / 53952129
stomach6 / 9661962
testis12 / 33044236
thymus3 / 8113136
thyroid5 / 47473105
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212571_at
Cell line Expression level Expression bar
721_B_lymphoblasts179.15
Adipocyte42.3
AdrenalCortex44.45
Adrenalgland38.2
Amygdala49.45
Appendix30.55
AtrioventricularNode20.8
BDCA4+_DentriticCells132.25
Bonemarrow41.25
BronchialEpithelialCells43.5
CD105+_Endothelial43.8
CD14+_Monocytes62
CD19+_BCells(neg._sel.)115.25
CD33+_Myeloid118.85
CD34+97.8
CD4+_Tcells177
CD56+_NKCells109.2
CD71+_EarlyErythroid27.85
CD8+_Tcells163.45
CardiacMyocytes56.8
Caudatenucleus36.45
Cerebellum43.1
CerebellumPeduncles102.15
CiliaryGanglion28.75
CingulateCortex45.25
Colorectaladenocarcinoma44.5
DorsalRootGanglion39.2
FetalThyroid82.05
Fetalbrain49.3
Fetalliver32.15
Fetallung33.65
GlobusPallidus43.65
Heart27.2
Hypothalamus44.5
Kidney32.4
Leukemia_chronicMyelogenousK-56239.6
Leukemia_promyelocytic-HL-6066.6
Leukemialymphoblastic(MOLT-4)100.5
Liver53.35
Lung44.9
Lymphnode39.85
Lymphoma_burkitts(Daudi)63.3
Lymphoma_burkitts(Raji)61.15
MedullaOblongata43.05
OccipitalLobe43.8
OlfactoryBulb62.65
Ovary26.45
Pancreas34
PancreaticIslet45.4
ParietalLobe45.05
Pituitary118.1
Placenta51.8
Pons37.7
PrefrontalCortex158.1
Prostate48.1
Salivarygland27.35
SkeletalMuscle37.4
Skin32.05
SmoothMuscle58.7
Spinalcord48.15
SubthalamicNucleus34.95
SuperiorCervicalGanglion45.15
TemporalLobe36.25
Testis57.05
TestisGermCell67.7
TestisIntersitial47.95
TestisLeydigCell41.25
TestisSeminiferousTubule53.25
Thalamus44.2
Thymus150.35
Thyroid45.55
Tongue41.75
Tonsil77.2
Trachea34.6
TrigeminalGanglion6.9
Uterus38.4
UterusCorpus36.1
WholeBlood57.5
Wholebrain28.4
colon34.4
pineal_day164.58
pineal_night115.68
retina73.275
small_intestine41.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P140241
  • 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
Amygdala5.04 ± 0.39
Basal Forebrain4.85 ± 0.43
Basal Part of Pons5.5 ± 0.43
Cerebellar Cortex5.49 ± 0.36
Cerebellar Nuclei5.04 ± 0.38
Claustrum4.82 ± 0.5
Epithalamus4.92 ± 0.52
Frontal Lobe5.17 ± 0.5
Globus Pallidus5.1 ± 0.58
Hypothalamus5.02 ± 0.61
Insula5.26 ± 0.33
Limbic Lobe5.09 ± 0.5
Mesencephalon5.08 ± 0.46
Myelencephalon5.04 ± 0.51
Occipital Lobe4.99 ± 0.5
Parietal Lobe5.11 ± 0.52
Pontine Tegmentum5.1 ± 0.42
Striatum4.84 ± 0.35
Subthalamus4.93 ± 0.67
Temporal Lobe5.17 ± 0.45
Thalamus5.27 ± 0.44
White Matter5.22 ± 0.43
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00081098 21 265 285 VVLQPQAGSSQGASSGLSVVK 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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