AutismKB 2.0

Annotation Detail for CHD2


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Basic Information Top
Gene Symbol:CHD2 ( DKFZp547I1315,DKFZp686E01200,DKFZp781D1727,FLJ38614 )
Gene Full Name: chromodomain helicase DNA binding protein 2
Band: 15q26.1
Quick LinksEntrez ID:1106; OMIM: 602119; Uniprot ID:CHD2_HUMAN; ENSEMBL ID: ENSG00000173575; HGNC ID: 1917
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 body8 / 70761113
blastocyst9 / 62319144
fetus99 / 564012175
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult370 / 1939121190
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor18 / 94178191
cervical tumor3 / 3436687
chondrosarcoma10 / 82823120
colorectal tumor19 / 114246166
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor17 / 26384564
glioma12 / 106883112
head and neck tumor33 / 136302242
kidney tumor5 / 6895972
leukemia22 / 95842229
liver tumor6 / 9635962
lung tumor18 / 103127174
lymphoma2 / 7175527
non-neoplasia12 / 97250123
normal448 / 3360307133
ovarian tumor17 / 76682221
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer17 / 102680165
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor74 / 125191591
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites6 / 40015149
bladder2 / 2975767
blood21 / 123478170
bone15 / 71655209
bone marrow4 / 4880181
brain84 / 110098976
cervix3 / 4817162
connective tissue71 / 149255475
ear4 / 16212246
embryonic tissue28 / 215722129
esophagus1 / 2020949
eye22 / 211054104
heart13 / 89626145
intestine29 / 234472123
kidney25 / 211777118
larynx7 / 24145289
liver53 / 207743255
lung82 / 336974243
lymph2 / 4427045
lymph node13 / 91610141
mammary gland26 / 153271169
mouth15 / 67052223
muscle5 / 10771546
nerve1 / 1576863
ovary23 / 102051225
pancreas25 / 214812116
parathyroid2 / 2053997
pharynx13 / 41328314
pituitary gland1 / 1658560
placenta17 / 28082560
prostate28 / 189345147
salivary gland1 / 2015549
skin13 / 21057461
spleen5 / 5395292
stomach5 / 9661951
testis14 / 33044242
thymus16 / 81131197
thyroid11 / 47473231
tonsil2 / 16999117
trachea2 / 5241338
umbilical cord0 / 136800 
uterus28 / 232878120
vascular5 / 5178096
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1156_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
Amygdala7.4 ± 0.28
Basal Forebrain7.4 ± 0.19
Basal Part of Pons7.32 ± 0.15
Cerebellar Cortex7.37 ± 0.19
Cerebellar Nuclei7.03 ± 0.16
Claustrum7.65 ± 0.33
Epithalamus7.24 ± 0.25
Frontal Lobe7.04 ± 0.32
Globus Pallidus7.73 ± 0.2
Hypothalamus6.94 ± 0.29
Insula7.09 ± 0.24
Limbic Lobe7.2 ± 0.36
Mesencephalon7.19 ± 0.27
Myelencephalon7.13 ± 0.33
Occipital Lobe7.39 ± 0.32
Parietal Lobe7.21 ± 0.36
Pontine Tegmentum7.06 ± 0.36
Striatum7 ± 0.36
Subthalamus7.18 ± 0.13
Temporal Lobe7.07 ± 0.33
Thalamus7.12 ± 0.27
White Matter7.98 ± 0.24
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011528 33 1441 1473 SQGPVHITAGSEPVPIGEDEDDDLDQETFSICK 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