AutismKB 2.0

Annotation Detail for DDX52


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DDX52 ( HUSSY19,ROK1 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 52
Band: 17q12
Quick LinksEntrez ID:11056; OMIM: 612500; Uniprot ID:DDX52_HUMAN; ENSEMBL ID: ENSG00000141141; HGNC ID: 20038
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 body5 / 7076170
blastocyst0 / 623190 
fetus19 / 56401233
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult71 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor23 / 26384587
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal106 / 336030731
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder3 / 29757100
blood9 / 12347872
bone2 / 7165527
bone marrow1 / 4880120
brain24 / 110098921
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye2 / 2110549
heart4 / 8962644
intestine5 / 23447221
kidney5 / 21177723
larynx0 / 241450 
liver11 / 20774352
lung5 / 33697414
lymph2 / 4427045
lymph node1 / 9161010
mammary gland6 / 15327139
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta6 / 28082521
prostate5 / 18934526
salivary gland1 / 2015549
skin9 / 21057442
spleen1 / 5395218
stomach1 / 9661910
testis27 / 33044281
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210320_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte4.9
AdrenalCortex5.6
Adrenalgland4.2
Amygdala5.25
Appendix5.15
AtrioventricularNode4.4
BDCA4+_DentriticCells5.7
Bonemarrow5.05
BronchialEpithelialCells4.95
CD105+_Endothelial10.35
CD14+_Monocytes5.4
CD19+_BCells(neg._sel.)5.45
CD33+_Myeloid6.5
CD34+7.05
CD4+_Tcells6.05
CD56+_NKCells8.4
CD71+_EarlyErythroid5.2
CD8+_Tcells5.25
CardiacMyocytes6.7
Caudatenucleus4.5
Cerebellum4.1
CerebellumPeduncles5.7
CiliaryGanglion4.05
CingulateCortex5.05
Colorectaladenocarcinoma5.05
DorsalRootGanglion4.15
FetalThyroid4.9
Fetalbrain4.95
Fetalliver4.35
Fetallung4.15
GlobusPallidus3.75
Heart6.4
Hypothalamus5.55
Kidney4.1
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-607.5
Leukemialymphoblastic(MOLT-4)4.05
Liver6.65
Lung5.45
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.5
Lymphoma_burkitts(Raji)7.1
MedullaOblongata4.6
OccipitalLobe4.5
OlfactoryBulb4
Ovary4.05
Pancreas4.05
PancreaticIslet5.45
ParietalLobe5.25
Pituitary5.85
Placenta5.15
Pons4.75
PrefrontalCortex6.2
Prostate5.9
Salivarygland4
SkeletalMuscle6.25
Skin4.45
SmoothMuscle5.65
Spinalcord5.4
SubthalamicNucleus4.55
SuperiorCervicalGanglion6.3
TemporalLobe4.6
Testis4.35
TestisGermCell4.15
TestisIntersitial4.3
TestisLeydigCell5.1
TestisSeminiferousTubule4.25
Thalamus5.1
Thymus3.9
Thyroid6.4
Tongue5
Tonsil4.9
Trachea4.2
TrigeminalGanglion5.6
Uterus4.15
UterusCorpus4.7
WholeBlood5.45
Wholebrain4.15
colon5.15
pineal_day6.4
pineal_night7.54
retina6.075
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P1929
  • 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
Amygdala7.39 ± 0.36
Basal Forebrain7.49 ± 0.26
Basal Part of Pons7.52 ± 0.27
Cerebellar Cortex7.69 ± 0.14
Cerebellar Nuclei7.68 ± 0.25
Claustrum7.6 ± 0.47
Epithalamus7.89 ± 0.28
Frontal Lobe7.53 ± 0.26
Globus Pallidus7.81 ± 0.22
Hypothalamus7.66 ± 0.19
Insula7.48 ± 0.17
Limbic Lobe7.43 ± 0.27
Mesencephalon7.65 ± 0.29
Myelencephalon7.53 ± 0.25
Occipital Lobe7.74 ± 0.21
Parietal Lobe7.55 ± 0.26
Pontine Tegmentum7.52 ± 0.29
Striatum7.3 ± 0.27
Subthalamus7.64 ± 0.21
Temporal Lobe7.44 ± 0.31
Thalamus7.66 ± 0.29
White Matter7.93 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddx52CBCerebellum3.73
4.8
Ddx52CTXCerebral cortex4.55
3.49
Ddx52HIPHippocampal region3.86
3.77
Ddx52HPFHippocampal formation2.5
2.24
Ddx52HYHypothalamus0.78
0.65
Ddx52LSXLateral septal complex4.04
4.71
Ddx52MBMidbrain1.45
1.6
Ddx52MYMedulla6.24
8.59
Ddx52OLFOlfactory bulb0.88
0.59
Ddx52PPons1.6
2.56
Ddx52PALPallidum3.14
2.81
Ddx52RHPRetrohippocampal region0.35
0.23
Ddx52sAMYStriatum-like amygdalar nuclei0.54
0.37
Ddx52STRStriatum2.13
2.28
Ddx52STRdStriatum dorsal region1.95
2.8
Ddx52STRvStriatum ventral region2.59
1.72
Ddx52THThalamus6.85
9.01
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DDX52_HUMAN_1 8 1 8 MDVHDLFR PRIDE
PAp00030161 23 149 171 IHVQGTDLPDPIATFQQLDQEYK 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