AutismKB 2.0

Annotation Detail for CHD1


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Basic Information Top
Gene Symbol:CHD1 ( DKFZp686E2337 )
Gene Full Name: chromodomain helicase DNA binding protein 1
Band: 5q15-q21.1
Quick LinksEntrez ID:1105; OMIM: 602118; Uniprot ID:CHD1_HUMAN; ENSEMBL ID: ENSG00000153922; HGNC ID: 1915
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 body3 / 7076142
blastocyst0 / 623190 
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult63 / 193912132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal102 / 336030730
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain18 / 110098916
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye12 / 21105456
heart3 / 8962633
intestine3 / 23447212
kidney2 / 2117779
larynx2 / 2414582
liver8 / 20774338
lung17 / 33697450
lymph0 / 442700 
lymph node2 / 9161021
mammary gland9 / 15327158
mouth0 / 670520 
muscle12 / 107715111
nerve1 / 1576863
ovary4 / 10205139
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta7 / 28082524
prostate4 / 18934521
salivary gland0 / 201550 
skin14 / 21057466
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus10 / 81131123
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204258_at
Cell line Expression level Expression bar
721_B_lymphoblasts118.8
Adipocyte7.6
AdrenalCortex69.55
Adrenalgland8.5
Amygdala6.85
Appendix9.8
AtrioventricularNode6.4
BDCA4+_DentriticCells139.05
Bonemarrow7.25
BronchialEpithelialCells16.55
CD105+_Endothelial122.15
CD14+_Monocytes165.05
CD19+_BCells(neg._sel.)171.95
CD33+_Myeloid365.1
CD34+165.9
CD4+_Tcells275.15
CD56+_NKCells196.7
CD71+_EarlyErythroid22.25
CD8+_Tcells312.65
CardiacMyocytes11.7
Caudatenucleus6.45
Cerebellum6.65
CerebellumPeduncles8
CiliaryGanglion5.8
CingulateCortex9.2
Colorectaladenocarcinoma9.35
DorsalRootGanglion6.2
FetalThyroid8.75
Fetalbrain8.3
Fetalliver13.35
Fetallung27.05
GlobusPallidus5.3
Heart8.95
Hypothalamus11.8
Kidney6
Leukemia_chronicMyelogenousK-56243.4
Leukemia_promyelocytic-HL-6020.45
Leukemialymphoblastic(MOLT-4)118
Liver12
Lung7.75
Lymphnode34.4
Lymphoma_burkitts(Daudi)12.3
Lymphoma_burkitts(Raji)13.3
MedullaOblongata8.1
OccipitalLobe7.1
OlfactoryBulb8.95
Ovary7.4
Pancreas13.95
PancreaticIslet12.85
ParietalLobe8.95
Pituitary11.75
Placenta7.25
Pons7.5
PrefrontalCortex11.65
Prostate8.6
Salivarygland7.9
SkeletalMuscle13.15
Skin6.45
SmoothMuscle7.7
Spinalcord9
SubthalamicNucleus6.65
SuperiorCervicalGanglion10.75
TemporalLobe7.9
Testis7.2
TestisGermCell30.4
TestisIntersitial9.15
TestisLeydigCell8.8
TestisSeminiferousTubule15.85
Thalamus8.35
Thymus158.85
Thyroid8.85
Tongue10.45
Tonsil24.1
Trachea7.3
TrigeminalGanglion9.7
Uterus23.5
UterusCorpus9.2
WholeBlood265.85
Wholebrain5.85
colon8.85
pineal_day48.72
pineal_night23.66
retina9.725
small_intestine7.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1717_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
Amygdala5.13 ± 0.44
Basal Forebrain5.16 ± 0.48
Basal Part of Pons5.04 ± 0.42
Cerebellar Cortex5.51 ± 0.19
Cerebellar Nuclei5.18 ± 0.38
Claustrum5.18 ± 0.43
Epithalamus5.11 ± 0.57
Frontal Lobe4.83 ± 0.39
Globus Pallidus5.34 ± 0.61
Hypothalamus4.83 ± 0.44
Insula4.99 ± 0.39
Limbic Lobe5.13 ± 0.45
Mesencephalon5.04 ± 0.49
Myelencephalon5.1 ± 0.46
Occipital Lobe5.54 ± 0.41
Parietal Lobe5.1 ± 0.4
Pontine Tegmentum5.14 ± 0.52
Striatum5.19 ± 0.53
Subthalamus4.98 ± 0.61
Temporal Lobe4.99 ± 0.41
Thalamus5.01 ± 0.33
White Matter6.05 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chd1CBCerebellum0.52
0.68
Chd1CTXCerebral cortex1.9
1.51
Chd1HIPHippocampal region2.24
2.04
Chd1HPFHippocampal formation1.81
1.61
Chd1HYHypothalamus0.23
0.22
Chd1LSXLateral septal complex0.2
0.18
Chd1MBMidbrain0.69
1.02
Chd1MYMedulla0.48
0.68
Chd1OLFOlfactory bulb2.4
1.68
Chd1PPons0.66
0.83
Chd1PALPallidum0.28
0.35
Chd1RHPRetrohippocampal region1
0.97
Chd1sAMYStriatum-like amygdalar nuclei0.59
0.52
Chd1STRStriatum0.23
0.22
Chd1STRdStriatum dorsal region0.14
0.16
Chd1STRvStriatum ventral region0.4
0.31
Chd1THThalamus0.62
0.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CHD1_HUMAN_1617 10 1617 1626 SNLEGSLKDR PRIDE
CHD1_HUMAN_1645 12 1645 1656 SSSEYTHHKSSR PRIDE
PAp00067734 13 665 677 FSSWEDFEEEHGK 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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