AutismKB 2.0

Annotation Detail for CHD1L


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Basic Information Top
Gene Symbol:CHD1L ( ALC1,CHDL,FLJ22530 )
Gene Full Name: chromodomain helicase DNA binding protein 1-like
Band: 1q21.1
Quick LinksEntrez ID:9557; OMIM: 613039; Uniprot ID:CHD1L_HUMAN; ENSEMBL ID: ENSG00000131778; HGNC ID: 1916
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 body10 / 70761141
blastocyst6 / 6231996
fetus26 / 56401246
neonate4 / 31097128
infant0 / 236200 
juvenile3 / 5555653
adult142 / 193912173
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor10 / 94178106
cervical tumor5 / 34366145
chondrosarcoma11 / 82823132
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor25 / 26384594
glioma7 / 10688365
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor10 / 96359103
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal169 / 336030750
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer12 / 102680116
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites4 / 4001599
bladder0 / 297570 
blood8 / 12347864
bone6 / 7165583
bone marrow2 / 4880140
brain47 / 110098942
cervix5 / 48171103
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye12 / 21105456
heart6 / 8962666
intestine12 / 23447251
kidney13 / 21177761
larynx1 / 2414541
liver16 / 20774377
lung20 / 33697459
lymph1 / 4427022
lymph node6 / 9161065
mammary gland10 / 15327165
mouth5 / 6705274
muscle13 / 107715120
nerve0 / 157680 
ovary3 / 10205129
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta17 / 28082560
prostate13 / 18934568
salivary gland1 / 2015549
skin14 / 21057466
spleen5 / 5395292
stomach8 / 9661982
testis27 / 33044281
thymus8 / 8113198
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus13 / 23287855
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212539_at
Cell line Expression level Expression bar
721_B_lymphoblasts235.85
Adipocyte65
AdrenalCortex52.1
Adrenalgland40.55
Amygdala46.75
Appendix42.35
AtrioventricularNode23.7
BDCA4+_DentriticCells382.5
Bonemarrow72.9
BronchialEpithelialCells118.5
CD105+_Endothelial400.15
CD14+_Monocytes192.55
CD19+_BCells(neg._sel.)292.35
CD33+_Myeloid275.1
CD34+647.85
CD4+_Tcells165.05
CD56+_NKCells179.3
CD71+_EarlyErythroid172.75
CD8+_Tcells155.35
CardiacMyocytes66.95
Caudatenucleus45.15
Cerebellum38.6
CerebellumPeduncles53.15
CiliaryGanglion17.9
CingulateCortex62
Colorectaladenocarcinoma30.5
DorsalRootGanglion34.4
FetalThyroid42.25
Fetalbrain30.3
Fetalliver74.9
Fetallung75.75
GlobusPallidus35.65
Heart36.95
Hypothalamus103.2
Kidney30.05
Leukemia_chronicMyelogenousK-562266.95
Leukemia_promyelocytic-HL-60198.95
Leukemialymphoblastic(MOLT-4)338.65
Liver62.7
Lung31.6
Lymphnode80.35
Lymphoma_burkitts(Daudi)183.4
Lymphoma_burkitts(Raji)63.6
MedullaOblongata42.9
OccipitalLobe52.1
OlfactoryBulb70.1
Ovary23.45
Pancreas40.9
PancreaticIslet55.4
ParietalLobe71.8
Pituitary75.05
Placenta35.95
Pons45.45
PrefrontalCortex81.75
Prostate34.6
Salivarygland31.4
SkeletalMuscle21.95
Skin16.5
SmoothMuscle57.65
Spinalcord105.15
SubthalamicNucleus46.15
SuperiorCervicalGanglion19.35
TemporalLobe33.9
Testis122.05
TestisGermCell89.4
TestisIntersitial51.9
TestisLeydigCell117.1
TestisSeminiferousTubule98.3
Thalamus78.85
Thymus80.7
Thyroid48.15
Tongue37.1
Tonsil57.45
Trachea47.7
TrigeminalGanglion27.65
Uterus54.8
UterusCorpus28.85
WholeBlood69.55
Wholebrain35.7
colon44.8
pineal_day121.48
pineal_night108.62
retina104.7
small_intestine51.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11300_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
Amygdala6.19 ± 0.81
Basal Forebrain6.39 ± 0.32
Basal Part of Pons6.33 ± 0.16
Cerebellar Cortex6.56 ± 0.19
Cerebellar Nuclei6.76 ± 0.32
Claustrum6.46 ± 0.31
Epithalamus6.73 ± 0.43
Frontal Lobe6.28 ± 0.37
Globus Pallidus7.14 ± 0.29
Hypothalamus6.15 ± 0.4
Insula6.14 ± 0.27
Limbic Lobe6.3 ± 0.33
Mesencephalon6.47 ± 0.39
Myelencephalon6.38 ± 0.42
Occipital Lobe6.57 ± 0.38
Parietal Lobe6.44 ± 0.43
Pontine Tegmentum6.41 ± 0.51
Striatum6.45 ± 0.44
Subthalamus6.81 ± 0.23
Temporal Lobe6.21 ± 0.41
Thalamus6.47 ± 0.33
White Matter7.65 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chd1lCBCerebellum0.97
1.28
Chd1lCTXCerebral cortex4.96
3.56
Chd1lHIPHippocampal region5.99
5.53
Chd1lHPFHippocampal formation4.08
3.48
Chd1lHYHypothalamus2.09
1.5
Chd1lLSXLateral septal complex2.83
1.89
Chd1lMBMidbrain0.85
1.16
Chd1lMYMedulla3.32
4.04
Chd1lOLFOlfactory bulb5.44
3.77
Chd1lPPons2.57
2.92
Chd1lPALPallidum1.18
0.91
Chd1lRHPRetrohippocampal region0.52
0.37
Chd1lsAMYStriatum-like amygdalar nuclei0.89
0.77
Chd1lSTRStriatum1.56
1.16
Chd1lSTRdStriatum dorsal region0.88
0.67
Chd1lSTRvStriatum ventral region3.69
2.47
Chd1lTHThalamus1.46
1.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00498986 28 321 348 CVDHPYLFDGVEPEPFEVGDHLTEASGK 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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