AutismKB 2.0

Annotation Detail for DGCR8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DGCR8 ( C22orf12,DGCRK6,Gy1,pasha )
Gene Full Name: DiGeorge syndrome critical region gene 8
Band: 22q11.21
Quick LinksEntrez ID:54487; OMIM: 609030; Uniprot ID:DGCR8_HUMAN; ENSEMBL ID: ENSG00000128191; HGNC ID: 2847
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
blastocyst4 / 6231964
fetus26 / 56401246
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult109 / 193912156
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor15 / 26384556
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal106 / 336030731
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor46 / 125191367
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone2 / 7165527
bone marrow2 / 4880140
brain39 / 110098935
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus2 / 2020998
eye7 / 21105433
heart0 / 896260 
intestine4 / 23447217
kidney13 / 21177761
larynx0 / 241450 
liver3 / 20774314
lung9 / 33697426
lymph0 / 442700 
lymph node7 / 9161076
mammary gland2 / 15327113
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin7 / 21057433
spleen1 / 5395218
stomach12 / 96619124
testis14 / 33044242
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 91617_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.05
Adipocyte14.3
AdrenalCortex17.95
Adrenalgland14.2
Amygdala15
Appendix16.75
AtrioventricularNode13.35
BDCA4+_DentriticCells19.55
Bonemarrow17.15
BronchialEpithelialCells14.7
CD105+_Endothelial56.45
CD14+_Monocytes22.3
CD19+_BCells(neg._sel.)21.3
CD33+_Myeloid21.5
CD34+44.55
CD4+_Tcells59.6
CD56+_NKCells28.9
CD71+_EarlyErythroid67.4
CD8+_Tcells49.05
CardiacMyocytes24.15
Caudatenucleus13.1
Cerebellum13.4
CerebellumPeduncles38.35
CiliaryGanglion12.15
CingulateCortex17.85
Colorectaladenocarcinoma21.65
DorsalRootGanglion13.4
FetalThyroid22.45
Fetalbrain24.3
Fetalliver13.7
Fetallung13.5
GlobusPallidus12.25
Heart23.05
Hypothalamus16.25
Kidney13.5
Leukemia_chronicMyelogenousK-562109.8
Leukemia_promyelocytic-HL-6014.25
Leukemialymphoblastic(MOLT-4)19.5
Liver30.4
Lung23.45
Lymphnode14.7
Lymphoma_burkitts(Daudi)19.95
Lymphoma_burkitts(Raji)23.2
MedullaOblongata11.3
OccipitalLobe13.35
OlfactoryBulb10.25
Ovary11.1
Pancreas13.45
PancreaticIslet19.2
ParietalLobe17.3
Pituitary17.15
Placenta24.65
Pons15.65
PrefrontalCortex20.3
Prostate22.35
Salivarygland13.05
SkeletalMuscle19.6
Skin13.2
SmoothMuscle19.3
Spinalcord16.8
SubthalamicNucleus15.1
SuperiorCervicalGanglion18.7
TemporalLobe14.9
Testis29.1
TestisGermCell16.9
TestisIntersitial21.25
TestisLeydigCell17.6
TestisSeminiferousTubule15.4
Thalamus16.4
Thymus18.05
Thyroid21.05
Tongue20.25
Tonsil15.85
Trachea11.35
TrigeminalGanglion21.25
Uterus17.15
UterusCorpus15.15
WholeBlood17.05
Wholebrain11.5
colon16.1
pineal_day21.78
pineal_night27.34
retina19.975
small_intestine15.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P113521
  • 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
Amygdala9.42 ± 0.32
Basal Forebrain9.6 ± 0.25
Basal Part of Pons9.25 ± 0.2
Cerebellar Cortex10.01 ± 0.33
Cerebellar Nuclei8.9 ± 0.38
Claustrum9.76 ± 0.53
Epithalamus9.22 ± 0.35
Frontal Lobe9.23 ± 0.34
Globus Pallidus8.96 ± 0.15
Hypothalamus9.12 ± 0.43
Insula9.38 ± 0.42
Limbic Lobe9.51 ± 0.57
Mesencephalon9.42 ± 0.47
Myelencephalon9.42 ± 0.42
Occipital Lobe10.11 ± 0.65
Parietal Lobe9.52 ± 0.36
Pontine Tegmentum9.39 ± 0.45
Striatum9.23 ± 0.4
Subthalamus9.21 ± 0.39
Temporal Lobe9.41 ± 0.4
Thalamus9.47 ± 0.31
White Matter9.22 ± 0.12
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000369 16 615 630 AGLLSPYQILHECLKR 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