AutismKB 2.0

Annotation Detail for DDX23


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Basic Information Top
Gene Symbol:DDX23 ( MGC8416,PRPF28,U5-100K,U5-100KD,prp28 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 23
Band: 12q13.12
Quick LinksEntrez ID:9416; OMIM: 612172; Uniprot ID:DDX23_HUMAN; ENSEMBL ID: ENSG00000174243; HGNC ID: 17347
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 body11 / 70761155
blastocyst13 / 62319208
fetus117 / 564012207
neonate5 / 31097160
infant3 / 23620127
juvenile7 / 55556125
adult253 / 1939121130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor5 / 34366145
chondrosarcoma15 / 82823181
colorectal tumor15 / 114246131
esophageal tumor3 / 17290173
gastrointestinal tumor16 / 119369134
germ cell tumor80 / 263845303
glioma8 / 10688374
head and neck tumor40 / 136302293
kidney tumor15 / 68959217
leukemia16 / 95842166
liver tumor2 / 9635920
lung tumor16 / 103127155
lymphoma24 / 71755334
non-neoplasia19 / 97250195
normal477 / 3360307141
ovarian tumor8 / 76682104
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS29 / 125680230
prostate cancer1 / 1026809
retinoblastoma6 / 46356129
skin tumor18 / 124949144
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland6 / 33197180
ascites6 / 40015149
bladder4 / 29757134
blood18 / 123478145
bone10 / 71655139
bone marrow6 / 48801122
brain221 / 1100989200
cervix9 / 48171186
connective tissue26 / 149255174
ear0 / 162120 
embryonic tissue30 / 215722139
esophagus3 / 20209148
eye20 / 21105494
heart8 / 8962689
intestine29 / 234472123
kidney19 / 21177789
larynx2 / 2414582
liver13 / 20774362
lung52 / 336974154
lymph18 / 44270406
lymph node4 / 9161043
mammary gland16 / 153271104
mouth37 / 67052551
muscle9 / 10771583
nerve3 / 15768190
ovary9 / 10205188
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta54 / 280825192
prostate9 / 18934547
salivary gland2 / 2015599
skin27 / 210574128
spleen8 / 53952148
stomach8 / 9661982
testis110 / 330442332
thymus64 / 81131788
thyroid1 / 4747321
tonsil3 / 16999176
trachea26 / 52413496
umbilical cord3 / 13680219
uterus37 / 232878158
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201440_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.7
Adipocyte4.45
AdrenalCortex4.5
Adrenalgland3.8
Amygdala4.25
Appendix4.35
AtrioventricularNode3.35
BDCA4+_DentriticCells21.25
Bonemarrow4.65
BronchialEpithelialCells4.6
CD105+_Endothelial24.25
CD14+_Monocytes17.15
CD19+_BCells(neg._sel.)17.85
CD33+_Myeloid14.25
CD34+23
CD4+_Tcells24.7
CD56+_NKCells37.65
CD71+_EarlyErythroid16
CD8+_Tcells33.8
CardiacMyocytes5.6
Caudatenucleus3.9
Cerebellum4.7
CerebellumPeduncles5.1
CiliaryGanglion3.05
CingulateCortex4.55
Colorectaladenocarcinoma13.9
DorsalRootGanglion3.4
FetalThyroid4.4
Fetalbrain5.15
Fetalliver3.95
Fetallung6.15
GlobusPallidus3.25
Heart5.75
Hypothalamus4.95
Kidney3.55
Leukemia_chronicMyelogenousK-5627.7
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)15.75
Liver5.8
Lung9.9
Lymphnode6.9
Lymphoma_burkitts(Daudi)5.75
Lymphoma_burkitts(Raji)6.2
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary2.95
Pancreas3.6
PancreaticIslet4.8
ParietalLobe4.55
Pituitary5.2
Placenta5.95
Pons4.3
PrefrontalCortex5.7
Prostate9.9
Salivarygland3.55
SkeletalMuscle4.95
Skin3.4
SmoothMuscle5.85
Spinalcord4.8
SubthalamicNucleus4.05
SuperiorCervicalGanglion4.9
TemporalLobe4.1
Testis5.3
TestisGermCell4.5
TestisIntersitial3.8
TestisLeydigCell4.45
TestisSeminiferousTubule4.3
Thalamus4.55
Thymus23.3
Thyroid7.15
Tongue4.35
Tonsil4.4
Trachea3.75
TrigeminalGanglion4.4
Uterus4.25
UterusCorpus3.95
WholeBlood6.95
Wholebrain5.55
colon4.55
pineal_day5.52
pineal_night5.46
retina5.45
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_3693_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
Amygdala4.45 ± 0.46
Basal Forebrain4.77 ± 0.52
Basal Part of Pons4.5 ± 0.55
Cerebellar Cortex4.6 ± 0.41
Cerebellar Nuclei4.53 ± 0.45
Claustrum4.4 ± 0.66
Epithalamus4.96 ± 0.41
Frontal Lobe4.33 ± 0.47
Globus Pallidus4.82 ± 0.4
Hypothalamus4.4 ± 0.53
Insula4.23 ± 0.62
Limbic Lobe4.45 ± 0.46
Mesencephalon4.61 ± 0.47
Myelencephalon4.47 ± 0.5
Occipital Lobe4.83 ± 0.41
Parietal Lobe4.59 ± 0.4
Pontine Tegmentum4.51 ± 0.52
Striatum4.37 ± 0.48
Subthalamus4.37 ± 0.3
Temporal Lobe4.44 ± 0.5
Thalamus4.53 ± 0.45
White Matter5.39 ± 0.29
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DDX23_HUMAN_2 10 2 11 AGELADKKDR PRIDE
DDX23_HUMAN_601 15 601 615 QTVMFTATMPPAVER PRIDE
PAp00001044 11 409 419 CGYKEPTPIQR 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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