AutismKB 2.0

Annotation Detail for CHD4


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Basic Information Top
Gene Symbol:CHD4 ( DKFZp686E06161,Mi-2b,Mi2-BETA )
Gene Full Name: chromodomain helicase DNA binding protein 4
Band: 12p13.31
Quick LinksEntrez ID:1108; OMIM: 603277; Uniprot ID:CHD4_HUMAN; ENSEMBL ID: ENSG00000111642; HGNC ID: 1919
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 body31 / 70761438
blastocyst23 / 62319369
fetus77 / 564012136
neonate0 / 310970 
infant2 / 2362084
juvenile12 / 55556215
adult408 / 1939121210
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor29 / 94178307
cervical tumor7 / 34366203
chondrosarcoma25 / 82823301
colorectal tumor30 / 114246262
esophageal tumor3 / 17290173
gastrointestinal tumor16 / 119369134
germ cell tumor102 / 263845386
glioma7 / 10688365
head and neck tumor32 / 136302234
kidney tumor7 / 68959101
leukemia9 / 9584293
liver tumor27 / 96359280
lung tumor21 / 103127203
lymphoma25 / 71755348
non-neoplasia6 / 9725061
normal471 / 3360307140
ovarian tumor12 / 76682156
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer7 / 10268068
retinoblastoma15 / 46356323
skin tumor36 / 124949288
soft tissue/muscle tissue tumor27 / 125191215
uterine tumor28 / 90257310
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites8 / 40015199
bladder3 / 29757100
blood8 / 12347864
bone20 / 71655279
bone marrow5 / 48801102
brain96 / 110098987
cervix13 / 48171269
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue76 / 215722352
esophagus3 / 20209148
eye55 / 211054260
heart9 / 89626100
intestine51 / 234472217
kidney19 / 21177789
larynx0 / 241450 
liver40 / 207743192
lung69 / 336974204
lymph21 / 44270474
lymph node29 / 91610316
mammary gland48 / 153271313
mouth15 / 67052223
muscle15 / 107715139
nerve2 / 15768126
ovary21 / 102051205
pancreas28 / 214812130
parathyroid2 / 2053997
pharynx7 / 41328169
pituitary gland2 / 16585120
placenta44 / 280825156
prostate11 / 18934558
salivary gland1 / 2015549
skin43 / 210574204
spleen0 / 539520 
stomach12 / 96619124
testis94 / 330442284
thymus13 / 81131160
thyroid19 / 47473400
tonsil4 / 16999235
trachea4 / 5241376
umbilical cord0 / 136800 
uterus46 / 232878197
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201184_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts644.1
Adipocyte186.3
AdrenalCortex165.9
Adrenalgland114.55
Amygdala111.35
Appendix72.35
AtrioventricularNode76.9
BDCA4+_DentriticCells243.6
Bonemarrow141.7
BronchialEpithelialCells212.25
CD105+_Endothelial209.3
CD14+_Monocytes161.95
CD19+_BCells(neg._sel.)248.05
CD33+_Myeloid199.6
CD34+410.9
CD4+_Tcells330.75
CD56+_NKCells261.85
CD71+_EarlyErythroid105.3
CD8+_Tcells353.75
CardiacMyocytes138.45
Caudatenucleus143.35
Cerebellum115.9
CerebellumPeduncles191.45
CiliaryGanglion67.5
CingulateCortex142.45
Colorectaladenocarcinoma236.4
DorsalRootGanglion92.6
FetalThyroid219.95
Fetalbrain131
Fetalliver76.3
Fetallung150.2
GlobusPallidus70.7
Heart120.6
Hypothalamus151.2
Kidney97.1
Leukemia_chronicMyelogenousK-562284
Leukemia_promyelocytic-HL-60196.65
Leukemialymphoblastic(MOLT-4)420.65
Liver126.6
Lung158.65
Lymphnode136.05
Lymphoma_burkitts(Daudi)270.2
Lymphoma_burkitts(Raji)355.7
MedullaOblongata109.45
OccipitalLobe126.6
OlfactoryBulb123.7
Ovary85.2
Pancreas103.85
PancreaticIslet124.3
ParietalLobe131.05
Pituitary181.25
Placenta148.8
Pons87.4
PrefrontalCortex151.4
Prostate159.85
Salivarygland87.2
SkeletalMuscle113.4
Skin85.95
SmoothMuscle185.5
Spinalcord146.95
SubthalamicNucleus106.45
SuperiorCervicalGanglion98.25
TemporalLobe101.95
Testis148.2
TestisGermCell148.4
TestisIntersitial90.6
TestisLeydigCell101.4
TestisSeminiferousTubule109.3
Thalamus140.1
Thymus343.65
Thyroid219.7
Tongue130.95
Tonsil225.3
Trachea98.95
TrigeminalGanglion95.35
Uterus155.9
UterusCorpus110.75
WholeBlood161.6
Wholebrain108.55
colon112.4
pineal_day325.86
pineal_night316.12
retina187.7
small_intestine118.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16910_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
Amygdala4.52 ± 0.51
Basal Forebrain4.9 ± 0.36
Basal Part of Pons4.77 ± 0.59
Cerebellar Cortex4.96 ± 0.61
Cerebellar Nuclei4.62 ± 0.42
Claustrum4.1 ± 0.78
Epithalamus5.39 ± 0.55
Frontal Lobe4.82 ± 0.57
Globus Pallidus5.16 ± 0.52
Hypothalamus4.52 ± 0.76
Insula4.75 ± 0.44
Limbic Lobe4.58 ± 0.54
Mesencephalon4.86 ± 0.58
Myelencephalon4.77 ± 0.56
Occipital Lobe4.53 ± 0.57
Parietal Lobe4.74 ± 0.58
Pontine Tegmentum4.76 ± 0.6
Striatum5.06 ± 0.45
Subthalamus4.9 ± 0.27
Temporal Lobe4.77 ± 0.56
Thalamus4.99 ± 0.55
White Matter5.46 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chd4CBCerebellum100
100
Chd4CTXCerebral cortex100
100
Chd4HIPHippocampal region100
100
Chd4HPFHippocampal formation100
100
Chd4HYHypothalamus100
100
Chd4LSXLateral septal complex100
100
Chd4MBMidbrain100
100
Chd4MYMedulla100
100
Chd4OLFOlfactory bulb100
100
Chd4PPons100
100
Chd4PALPallidum100
100
Chd4RHPRetrohippocampal region100
100
Chd4sAMYStriatum-like amygdalar nuclei100
100
Chd4STRStriatum100
100
Chd4STRdStriatum dorsal region100
100
Chd4STRvStriatum ventral region100
100
Chd4THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CHD4_HUMAN_1490 6 1490 1495 QHVLTR PRIDE
CHD4_HUMAN_946 11 946 956 LHDMLGPHMLR PRIDE
CHD4_HUMAN_993 8 993 1000 NFEALNAR PRIDE
PAp00000820 18 391 408 AYHMVCLDPDMEKAPEGK 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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