AutismKB 2.0

Annotation Detail for DGCR14


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Basic Information Top
Gene Symbol:DGCR14 ( DGCR13,DGS-H,DGS-I,DGSH,DGSI,ES2,Es2el )
Gene Full Name: DiGeorge syndrome critical region gene 14
Band: 22q11.21|22q11.2
Quick LinksEntrez ID:8220; OMIM: 601755; Uniprot ID:DGC14_HUMAN; ENSEMBL ID: ENSG00000100056; HGNC ID:
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 body1 / 7076114
blastocyst1 / 6231916
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile7 / 55556125
adult70 / 193912136
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
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
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor13 / 26384549
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor11 / 103127106
lymphoma12 / 71755167
non-neoplasia3 / 9725030
normal110 / 336030732
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS41 / 125680326
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal18 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood9 / 12347872
bone3 / 7165541
bone marrow0 / 488010 
brain42 / 110098938
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye9 / 21105442
heart0 / 896260 
intestine3 / 23447212
kidney7 / 21177733
larynx0 / 241450 
liver2 / 2077439
lung25 / 33697474
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta23 / 28082581
prostate5 / 18934526
salivary gland3 / 20155148
skin5 / 21057423
spleen0 / 539520 
stomach2 / 9661920
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart5 / 8962655
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204383_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.7
Adipocyte4.75
AdrenalCortex4.9
Adrenalgland4
Amygdala5.15
Appendix4.85
AtrioventricularNode3.6
BDCA4+_DentriticCells11.8
Bonemarrow4.7
BronchialEpithelialCells4.8
CD105+_Endothelial9.9
CD14+_Monocytes9.45
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid8.45
CD34+7.85
CD4+_Tcells11.45
CD56+_NKCells8.05
CD71+_EarlyErythroid5.25
CD8+_Tcells9
CardiacMyocytes6.05
Caudatenucleus4.35
Cerebellum3.9
CerebellumPeduncles5.35
CiliaryGanglion3.3
CingulateCortex4.8
Colorectaladenocarcinoma5.55
DorsalRootGanglion3.65
FetalThyroid4.7
Fetalbrain4.75
Fetalliver4.1
Fetallung4
GlobusPallidus3.45
Heart6.35
Hypothalamus5.25
Kidney3.8
Leukemia_chronicMyelogenousK-56230.1
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.95
Liver8.5
Lung20.65
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.15
Lymphoma_burkitts(Raji)6.75
MedullaOblongata4.2
OccipitalLobe4.2
OlfactoryBulb3.8
Ovary3.15
Pancreas3.8
PancreaticIslet5.1
ParietalLobe5
Pituitary5.65
Placenta5
Pons4.6
PrefrontalCortex7.3
Prostate8.75
Salivarygland3.85
SkeletalMuscle5.35
Skin3.7
SmoothMuscle5.45
Spinalcord5.2
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.4
TemporalLobe4.3
Testis26.4
TestisGermCell9.15
TestisIntersitial53.65
TestisLeydigCell5.25
TestisSeminiferousTubule12.4
Thalamus4.9
Thymus4.55
Thyroid7.2
Tongue4.5
Tonsil4.6
Trachea3.95
TrigeminalGanglion4.65
Uterus8.95
UterusCorpus4.3
WholeBlood13
Wholebrain5.35
colon4.85
pineal_day6.22
pineal_night6.18
retina7.225
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P40515
  • 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
Amygdala2.04 ± 0.97
Basal Forebrain1.59 ± 0.18
Basal Part of Pons1.39 ± 0.53
Cerebellar Cortex1.49 ± 0.75
Cerebellar Nuclei1.87 ± 0.72
Claustrum2.49 ± 0.87
Epithalamus1.33 ± 0.7
Frontal Lobe1.42 ± 0.56
Globus Pallidus2.2 ± 0.33
Hypothalamus1.7 ± 0.66
Insula1.59 ± 0.53
Limbic Lobe1.59 ± 0.6
Mesencephalon1.76 ± 0.68
Myelencephalon1.63 ± 0.65
Occipital Lobe1.74 ± 0.56
Parietal Lobe1.65 ± 0.76
Pontine Tegmentum1.67 ± 0.67
Striatum1.74 ± 0.47
Subthalamus1.75 ± 0.63
Temporal Lobe1.52 ± 0.67
Thalamus1.58 ± 0.56
White Matter2.11 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Es2elCBCerebellum35.17
43.08
Es2elCTXCerebral cortex57.18
40.56
Es2elHIPHippocampal region32.95
38.16
Es2elHPFHippocampal formation38.51
38.22
Es2elHYHypothalamus23.84
18.14
Es2elLSXLateral septal complex25.5
19.97
Es2elMBMidbrain27.3
22.38
Es2elMYMedulla44.22
43.79
Es2elOLFOlfactory bulb60.35
48.16
Es2elPPons27.36
26.24
Es2elPALPallidum28.82
22.12
Es2elRHPRetrohippocampal region50.95
40.37
Es2elsAMYStriatum-like amygdalar nuclei37.72
25.86
Es2elSTRStriatum31.2
21.49
Es2elSTRdStriatum dorsal region28.24
19.36
Es2elSTRvStriatum ventral region42.78
27.57
Es2elTHThalamus27.83
22.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DGC14_HUMAN_243 8 243 250 QVVHKNTR PRIDE
PAp00079238 20 430 449 TPASGLQTPTSTPAPGSATR 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