AutismKB 2.0

Annotation Detail for DGCR2


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Basic Information Top
Gene Symbol:DGCR2 ( DGS-C,DKFZp686I1730,IDD,KIAA0163,LAN,SEZ-12 )
Gene Full Name: DiGeorge syndrome critical region gene 2
Band: 22q11.21
Quick LinksEntrez ID:9993; OMIM: 600594; Uniprot ID:IDD_HUMAN; ENSEMBL ID: ENSG00000070413; HGNC ID: 2845
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 body14 / 70761197
blastocyst12 / 62319192
fetus130 / 564012230
neonate1 / 3109732
infant3 / 23620127
juvenile12 / 55556215
adult293 / 1939121151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor11 / 94178116
cervical tumor3 / 3436687
chondrosarcoma11 / 82823132
colorectal tumor10 / 11424687
esophageal tumor4 / 17290231
gastrointestinal tumor22 / 119369184
germ cell tumor72 / 263845272
glioma29 / 106883271
head and neck tumor29 / 136302212
kidney tumor7 / 68959101
leukemia8 / 9584283
liver tumor11 / 96359114
lung tumor9 / 10312787
lymphoma7 / 7175597
non-neoplasia8 / 9725082
normal1036 / 3360307308
ovarian tumor11 / 76682143
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS47 / 125680373
prostate cancer12 / 102680116
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites9 / 40015224
bladder3 / 29757100
blood10 / 12347880
bone6 / 7165583
bone marrow7 / 48801143
brain757 / 1100989687
cervix10 / 48171207
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue43 / 215722199
esophagus4 / 20209197
eye24 / 211054113
heart7 / 8962678
intestine29 / 234472123
kidney24 / 211777113
larynx1 / 2414541
liver12 / 20774357
lung45 / 336974133
lymph1 / 4427022
lymph node14 / 91610152
mammary gland36 / 153271234
mouth23 / 67052343
muscle8 / 10771574
nerve2 / 15768126
ovary11 / 102051107
pancreas42 / 214812195
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta32 / 280825113
prostate20 / 189345105
salivary gland3 / 20155148
skin13 / 21057461
spleen7 / 53952129
stomach15 / 96619155
testis123 / 330442372
thymus21 / 81131258
thyroid5 / 47473105
tonsil0 / 169990 
trachea32 / 52413610
umbilical cord0 / 136800 
uterus40 / 232878171
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214198_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts86.4
Adipocyte48.45
AdrenalCortex56.8
Adrenalgland53.9
Amygdala327.5
Appendix25.6
AtrioventricularNode46.35
BDCA4+_DentriticCells158.15
Bonemarrow57.9
BronchialEpithelialCells58.15
CD105+_Endothelial76.6
CD14+_Monocytes218
CD19+_BCells(neg._sel.)90.4
CD33+_Myeloid301.55
CD34+189.55
CD4+_Tcells225.7
CD56+_NKCells140.7
CD71+_EarlyErythroid62.75
CD8+_Tcells178.25
CardiacMyocytes86.4
Caudatenucleus80.65
Cerebellum106.75
CerebellumPeduncles91
CiliaryGanglion50.25
CingulateCortex156.2
Colorectaladenocarcinoma167.7
DorsalRootGanglion45.5
FetalThyroid140.65
Fetalbrain138
Fetalliver39.8
Fetallung48.55
GlobusPallidus63.25
Heart176.15
Hypothalamus286.45
Kidney55.85
Leukemia_chronicMyelogenousK-562103.55
Leukemia_promyelocytic-HL-6044.5
Leukemialymphoblastic(MOLT-4)41.15
Liver108.7
Lung345.25
Lymphnode63.8
Lymphoma_burkitts(Daudi)51.4
Lymphoma_burkitts(Raji)120.1
MedullaOblongata73.35
OccipitalLobe107.5
OlfactoryBulb53.35
Ovary16.85
Pancreas52.15
PancreaticIslet105.2
ParietalLobe85.6
Pituitary65.7
Placenta121.15
Pons60.4
PrefrontalCortex261.1
Prostate383.35
Salivarygland63.6
SkeletalMuscle45.15
Skin54.9
SmoothMuscle67.4
Spinalcord106.3
SubthalamicNucleus59.25
SuperiorCervicalGanglion20.05
TemporalLobe104.05
Testis142.85
TestisGermCell64.3
TestisIntersitial46.75
TestisLeydigCell34.4
TestisSeminiferousTubule51.35
Thalamus134.3
Thymus82.6
Thyroid452.45
Tongue34.3
Tonsil53.3
Trachea63
TrigeminalGanglion36.1
Uterus129.5
UterusCorpus31.7
WholeBlood249.55
Wholebrain212.9
colon152.35
pineal_day121.06
pineal_night136.9
retina272.3
small_intestine139.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9814_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
Amygdala4.11 ± 0.75
Basal Forebrain3.59 ± 0.34
Basal Part of Pons3.76 ± 0.55
Cerebellar Cortex4.25 ± 0.43
Cerebellar Nuclei3.89 ± 0.43
Claustrum3.88 ± 0.89
Epithalamus3.77 ± 0.91
Frontal Lobe3.75 ± 0.63
Globus Pallidus3.54 ± 0.76
Hypothalamus3.67 ± 0.5
Insula3.94 ± 0.55
Limbic Lobe3.92 ± 0.65
Mesencephalon4.06 ± 0.74
Myelencephalon3.87 ± 0.66
Occipital Lobe4.08 ± 0.49
Parietal Lobe3.95 ± 0.64
Pontine Tegmentum3.84 ± 0.61
Striatum3.54 ± 0.68
Subthalamus3.97 ± 0.21
Temporal Lobe3.94 ± 0.61
Thalamus3.73 ± 0.61
White Matter4.2 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dgcr2CBCerebellum29.71
58.28
Dgcr2CTXCerebral cortex46.79
34.29
Dgcr2HIPHippocampal region35.12
39.82
Dgcr2HPFHippocampal formation39.93
38.92
Dgcr2HYHypothalamus57.56
47.7
Dgcr2LSXLateral septal complex21.95
15.33
Dgcr2MBMidbrain43.55
41.38
Dgcr2MYMedulla45.71
51.42
Dgcr2OLFOlfactory bulb36.67
27.69
Dgcr2PPons43.61
47.79
Dgcr2PALPallidum47.36
46.97
Dgcr2RHPRetrohippocampal region49.7
39.12
Dgcr2sAMYStriatum-like amygdalar nuclei48.83
37.86
Dgcr2STRStriatum20.92
16.13
Dgcr2STRdStriatum dorsal region15.95
12.7
Dgcr2STRvStriatum ventral region27.49
19.72
Dgcr2THThalamus36.4
29.82
Peptide Top

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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