AutismKB 2.0

Annotation Detail for DDX39


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Basic Information Top
Gene Symbol:DDX39 ( BAT1,BAT1L,DDXL,MGC18203,MGC8417,URH49 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 39
Band: 19p13.12
Quick LinksEntrez ID:10212; OMIM: NA; Uniprot ID:DDX39_HUMAN; ENSEMBL ID: ENSG00000123136; 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 body2 / 7076128
blastocyst9 / 62319144
fetus26 / 56401246
neonate1 / 3109732
infant3 / 23620127
juvenile7 / 55556125
adult189 / 193912197
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor6 / 34366174
chondrosarcoma6 / 8282372
colorectal tumor15 / 114246131
esophageal tumor2 / 17290115
gastrointestinal tumor28 / 119369234
germ cell tumor34 / 263845128
glioma21 / 106883196
head and neck tumor13 / 13630295
kidney tumor12 / 68959174
leukemia18 / 95842187
liver tumor15 / 96359155
lung tumor66 / 103127639
lymphoma27 / 71755376
non-neoplasia5 / 9725051
normal336 / 336030799
ovarian tumor10 / 76682130
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer7 / 10268068
retinoblastoma13 / 46356280
skin tumor26 / 124949208
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland4 / 33197120
ascites16 / 40015399
bladder3 / 29757100
blood26 / 123478210
bone6 / 7165583
bone marrow2 / 4880140
brain107 / 110098997
cervix9 / 48171186
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus3 / 20209148
eye26 / 211054123
heart7 / 8962678
intestine35 / 234472149
kidney17 / 21177780
larynx4 / 24145165
liver19 / 20774391
lung82 / 336974243
lymph23 / 44270519
lymph node14 / 91610152
mammary gland8 / 15327152
mouth5 / 6705274
muscle10 / 10771592
nerve2 / 15768126
ovary12 / 102051117
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx14 / 41328338
pituitary gland1 / 1658560
placenta32 / 280825113
prostate12 / 18934563
salivary gland2 / 2015599
skin26 / 210574123
spleen15 / 53952278
stomach11 / 96619113
testis91 / 330442275
thymus47 / 81131579
thyroid0 / 474730 
tonsil6 / 16999352
trachea4 / 5241376
umbilical cord0 / 136800 
uterus36 / 232878154
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201584_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1094.75
Adipocyte15.85
AdrenalCortex22.2
Adrenalgland36.4
Amygdala19.7
Appendix22.2
AtrioventricularNode10.35
BDCA4+_DentriticCells355
Bonemarrow58.9
BronchialEpithelialCells159.2
CD105+_Endothelial517.75
CD14+_Monocytes141.5
CD19+_BCells(neg._sel.)317.15
CD33+_Myeloid227.85
CD34+537.2
CD4+_Tcells439.4
CD56+_NKCells322.15
CD71+_EarlyErythroid298.45
CD8+_Tcells454.8
CardiacMyocytes54.8
Caudatenucleus11.75
Cerebellum41.9
CerebellumPeduncles35.3
CiliaryGanglion7.05
CingulateCortex12.75
Colorectaladenocarcinoma205.15
DorsalRootGanglion9.9
FetalThyroid47.45
Fetalbrain16.3
Fetalliver41.05
Fetallung54.5
GlobusPallidus8
Heart115.9
Hypothalamus29.85
Kidney15.15
Leukemia_chronicMyelogenousK-562639.15
Leukemia_promyelocytic-HL-60384.4
Leukemialymphoblastic(MOLT-4)654.3
Liver27.5
Lung143.3
Lymphnode154.8
Lymphoma_burkitts(Daudi)1107.5
Lymphoma_burkitts(Raji)342.7
MedullaOblongata14.85
OccipitalLobe13.85
OlfactoryBulb21.7
Ovary7.9
Pancreas26.4
PancreaticIslet28.95
ParietalLobe12.5
Pituitary14.35
Placenta49.95
Pons10.05
PrefrontalCortex29.45
Prostate70
Salivarygland14.55
SkeletalMuscle18.1
Skin8.95
SmoothMuscle34.4
Spinalcord43.1
SubthalamicNucleus12.05
SuperiorCervicalGanglion11.9
TemporalLobe17.1
Testis1144.45
TestisGermCell689.85
TestisIntersitial896.2
TestisLeydigCell587.8
TestisSeminiferousTubule608.1
Thalamus32.05
Thymus657.7
Thyroid25.65
Tongue39.65
Tonsil237.45
Trachea20.5
TrigeminalGanglion17.65
Uterus60.9
UterusCorpus11.3
WholeBlood106.05
Wholebrain42.9
colon159.35
pineal_day16.98
pineal_night15.52
retina28.3
small_intestine199.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5943_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
Amygdala5.18 ± 0.57
Basal Forebrain5.6 ± 0.39
Basal Part of Pons6.18 ± 0.5
Cerebellar Cortex6.22 ± 0.29
Cerebellar Nuclei6.15 ± 0.42
Claustrum4.91 ± 0.94
Epithalamus6.2 ± 0.57
Frontal Lobe5.86 ± 0.53
Globus Pallidus5.79 ± 0.23
Hypothalamus5.81 ± 0.53
Insula5.71 ± 0.51
Limbic Lobe5.29 ± 0.59
Mesencephalon5.56 ± 0.55
Myelencephalon5.68 ± 0.61
Occipital Lobe5.49 ± 0.49
Parietal Lobe5.54 ± 0.59
Pontine Tegmentum5.61 ± 0.51
Striatum5.26 ± 0.49
Subthalamus5.74 ± 0.25
Temporal Lobe5.69 ± 0.45
Thalamus5.75 ± 0.64
White Matter7.03 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddx39CBCerebellum19.61
21.8
Ddx39CTXCerebral cortex48.56
38.2
Ddx39HIPHippocampal region55.03
73.43
Ddx39HPFHippocampal formation59.32
67.39
Ddx39HYHypothalamus61.31
52.48
Ddx39LSXLateral septal complex23.03
19.75
Ddx39MBMidbrain42.13
39.44
Ddx39MYMedulla34.39
42.63
Ddx39OLFOlfactory bulb50.35
46.4
Ddx39PPons47.53
52.86
Ddx39PALPallidum42.55
42.15
Ddx39RHPRetrohippocampal region72.69
61.18
Ddx39sAMYStriatum-like amygdalar nuclei58.97
47
Ddx39STRStriatum29.04
23.38
Ddx39STRdStriatum dorsal region18.44
14.78
Ddx39STRvStriatum ventral region45.94
34.76
Ddx39THThalamus40.48
35.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DDX39_HUMAN_200 8 200 207 MLEQLDMR PRIDE
DDX39_HUMAN_307 12 307 318 VEQNFPAIAIHR PRIDE
DDX39_HUMAN_339 10 339 348 ILVATNLFGR PRIDE
DDX39_HUMAN_47 10 47 56 DFLLKPELLR PRIDE
PAp00001579 10 48 57 DFLLKPELLR 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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