AutismKB 2.0

Annotation Detail for CHD7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CHD7 ( FLJ20357,FLJ20361,IS3,KAL5,KIAA1416 )
Gene Full Name: chromodomain helicase DNA binding protein 7
Band: 8q12.2
Quick LinksEntrez ID:55636; OMIM: 608765,608892; Uniprot ID:CHD7_HUMAN; ENSEMBL ID: ENSG00000171316; HGNC ID: 20626
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 body4 / 7076156
blastocyst8 / 62319128
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult77 / 193912139
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 tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor14 / 26384553
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal127 / 336030737
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma6 / 46356129
skin tumor11 / 12494988
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine12 / 23447251
kidney7 / 21177733
larynx2 / 2414582
liver3 / 20774314
lung12 / 33697435
lymph0 / 442700 
lymph node31 / 91610338
mammary gland10 / 15327165
mouth1 / 6705214
muscle12 / 107715111
nerve1 / 1576863
ovary5 / 10205148
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach2 / 9661920
testis6 / 33044218
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218829_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.35
Adipocyte7.95
AdrenalCortex9.75
Adrenalgland7.95
Amygdala9.6
Appendix9.8
AtrioventricularNode7.3
BDCA4+_DentriticCells10.25
Bonemarrow9.3
BronchialEpithelialCells9.15
CD105+_Endothelial9.35
CD14+_Monocytes9.9
CD19+_BCells(neg._sel.)83.95
CD33+_Myeloid11.8
CD34+11.65
CD4+_Tcells11.95
CD56+_NKCells12.7
CD71+_EarlyErythroid7.8
CD8+_Tcells11
CardiacMyocytes11.4
Caudatenucleus9.2
Cerebellum35.65
CerebellumPeduncles35.35
CiliaryGanglion6.8
CingulateCortex14.35
Colorectaladenocarcinoma9.75
DorsalRootGanglion7.15
FetalThyroid23
Fetalbrain9.05
Fetalliver8.65
Fetallung7.9
GlobusPallidus7.2
Heart11
Hypothalamus11.9
Kidney7.65
Leukemia_chronicMyelogenousK-5628.4
Leukemia_promyelocytic-HL-6032.6
Leukemialymphoblastic(MOLT-4)47.15
Liver12.3
Lung7.9
Lymphnode9.55
Lymphoma_burkitts(Daudi)31.15
Lymphoma_burkitts(Raji)13.5
MedullaOblongata14.95
OccipitalLobe8.4
OlfactoryBulb9.05
Ovary7.45
Pancreas19.55
PancreaticIslet15.65
ParietalLobe9.95
Pituitary18.25
Placenta9.3
Pons9.4
PrefrontalCortex12
Prostate10.5
Salivarygland7.75
SkeletalMuscle11.45
Skin7.3
SmoothMuscle10.2
Spinalcord12.9
SubthalamicNucleus8.6
SuperiorCervicalGanglion15.55
TemporalLobe9.35
Testis8
TestisGermCell7.1
TestisIntersitial7.95
TestisLeydigCell9.45
TestisSeminiferousTubule8
Thalamus9.7
Thymus7.25
Thyroid11.5
Tongue9.3
Tonsil12.35
Trachea7.6
TrigeminalGanglion10.15
Uterus7.55
UterusCorpus8.05
WholeBlood24.25
Wholebrain7.75
colon11.05
pineal_day61.38
pineal_night58.6
retina19.975
small_intestine9.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P58381
  • 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
Amygdala9.97 ± 0.33
Basal Forebrain10.67 ± 0.46
Basal Part of Pons10.18 ± 0.44
Cerebellar Cortex10.85 ± 0.34
Cerebellar Nuclei10.83 ± 0.39
Claustrum10.03 ± 0.28
Epithalamus10.85 ± 0.51
Frontal Lobe9.97 ± 0.59
Globus Pallidus10.99 ± 0.86
Hypothalamus9.78 ± 0.24
Insula9.8 ± 0.26
Limbic Lobe9.85 ± 0.61
Mesencephalon10.31 ± 0.55
Myelencephalon10.23 ± 0.58
Occipital Lobe10.35 ± 0.49
Parietal Lobe10.04 ± 0.54
Pontine Tegmentum10.17 ± 0.58
Striatum10.64 ± 0.99
Subthalamus10.27 ± 0.41
Temporal Lobe9.97 ± 0.41
Thalamus10.39 ± 0.41
White Matter11.88 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chd7CBCerebellum100
100
Chd7CTXCerebral cortex41.51
33.33
Chd7HIPHippocampal region33.04
52.7
Chd7HPFHippocampal formation31.75
38.93
Chd7HYHypothalamus14.51
11.34
Chd7LSXLateral septal complex69.87
59.16
Chd7MBMidbrain17.58
15.56
Chd7MYMedulla50.47
61.78
Chd7OLFOlfactory bulb55.07
53.03
Chd7PPons29.32
31.6
Chd7PALPallidum32.84
28.06
Chd7RHPRetrohippocampal region30.14
25.35
Chd7sAMYStriatum-like amygdalar nuclei17.85
13.86
Chd7STRStriatum54.83
43.3
Chd7STRdStriatum dorsal region56.68
44.71
Chd7STRvStriatum ventral region62.7
46.66
Chd7THThalamus23.37
19.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002449 15 2465 2479 FILPNVSTPVSDAFK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved