AutismKB 2.0

Annotation Detail for DDX50


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Basic Information Top
Gene Symbol:DDX50 ( GU2,GUB,MGC3199,RH-II/GuB )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 50
Band: 10q22.1
Quick LinksEntrez ID:79009; OMIM: 610373; Uniprot ID:DDX50_HUMAN; ENSEMBL ID: ENSG00000107625; HGNC ID: 17906
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 body3 / 7076142
blastocyst5 / 6231980
fetus14 / 56401224
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult131 / 193912167
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) tumor14 / 94178148
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor19 / 26384572
glioma1 / 1068839
head and neck tumor44 / 136302322
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor7 / 10312767
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal110 / 336030732
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor9 / 12494972
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain18 / 110098916
cervix2 / 4817141
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine2 / 2344728
kidney9 / 21177742
larynx1 / 2414541
liver9 / 20774343
lung15 / 33697444
lymph2 / 4427045
lymph node0 / 916100 
mammary gland14 / 15327191
mouth37 / 67052551
muscle1 / 1077159
nerve1 / 1576863
ovary3 / 10205129
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx7 / 41328169
pituitary gland2 / 16585120
placenta16 / 28082556
prostate11 / 18934558
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach10 / 96619103
testis7 / 33044221
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular2 / 5178038
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221699_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts361.3
Adipocyte40.9
AdrenalCortex12.4
Adrenalgland7.9
Amygdala38.9
Appendix13.15
AtrioventricularNode7.65
BDCA4+_DentriticCells230.8
Bonemarrow10.75
BronchialEpithelialCells116
CD105+_Endothelial242.1
CD14+_Monocytes154.35
CD19+_BCells(neg._sel.)463.2
CD33+_Myeloid153.9
CD34+465.35
CD4+_Tcells224.6
CD56+_NKCells346.25
CD71+_EarlyErythroid102.55
CD8+_Tcells247.2
CardiacMyocytes54.1
Caudatenucleus18.15
Cerebellum7.65
CerebellumPeduncles13.35
CiliaryGanglion10.35
CingulateCortex17
Colorectaladenocarcinoma97.6
DorsalRootGanglion14.2
FetalThyroid69.55
Fetalbrain29.8
Fetalliver38.55
Fetallung40.1
GlobusPallidus9.25
Heart13.9
Hypothalamus33.5
Kidney6.15
Leukemia_chronicMyelogenousK-562181.05
Leukemia_promyelocytic-HL-60205.65
Leukemialymphoblastic(MOLT-4)152.05
Liver10.75
Lung13.15
Lymphnode60
Lymphoma_burkitts(Daudi)168.3
Lymphoma_burkitts(Raji)128
MedullaOblongata8.85
OccipitalLobe19.3
OlfactoryBulb48
Ovary26.05
Pancreas41.8
PancreaticIslet89.4
ParietalLobe13.25
Pituitary84.05
Placenta19.3
Pons13.85
PrefrontalCortex44.9
Prostate46.35
Salivarygland15.4
SkeletalMuscle16
Skin8.55
SmoothMuscle126.7
Spinalcord15.7
SubthalamicNucleus12.15
SuperiorCervicalGanglion13.15
TemporalLobe11.65
Testis15.25
TestisGermCell112.45
TestisIntersitial65.2
TestisLeydigCell36.7
TestisSeminiferousTubule57.45
Thalamus19.9
Thymus23.75
Thyroid122.55
Tongue18.1
Tonsil25.45
Trachea12
TrigeminalGanglion16.05
Uterus127.5
UterusCorpus17.7
WholeBlood86.5
Wholebrain13.55
colon64.3
pineal_day284.3
pineal_night275.62
retina52.375
small_intestine29.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P512054
  • 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
Amygdala2.88 ± 1.15
Basal Forebrain2.5 ± 0.39
Basal Part of Pons2.31 ± 0.66
Cerebellar Cortex2.27 ± 0.72
Cerebellar Nuclei2.64 ± 0.83
Claustrum2.97 ± 0.76
Epithalamus2.19 ± 0.88
Frontal Lobe2.34 ± 0.75
Globus Pallidus2.96 ± 0.62
Hypothalamus2.55 ± 0.62
Insula2.13 ± 0.58
Limbic Lobe2.47 ± 0.74
Mesencephalon2.47 ± 0.69
Myelencephalon2.48 ± 0.73
Occipital Lobe2.41 ± 0.69
Parietal Lobe2.53 ± 0.68
Pontine Tegmentum2.54 ± 0.73
Striatum2.66 ± 0.71
Subthalamus2.46 ± 0.69
Temporal Lobe2.37 ± 0.76
Thalamus2.33 ± 0.62
White Matter2.96 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddx50CBCerebellum33.25
45.12
Ddx50CTXCerebral cortex100
84.7
Ddx50HIPHippocampal region60.76
100
Ddx50HPFHippocampal formation71.87
92.04
Ddx50HYHypothalamus36.33
29.94
Ddx50LSXLateral septal complex100
81.17
Ddx50MBMidbrain37.4
34.13
Ddx50MYMedulla40.54
43.48
Ddx50OLFOlfactory bulb82.64
74.1
Ddx50PPons34.14
35.17
Ddx50PALPallidum35.18
31.93
Ddx50RHPRetrohippocampal region89.98
76.54
Ddx50sAMYStriatum-like amygdalar nuclei63.98
49.5
Ddx50STRStriatum45.96
34.24
Ddx50STRdStriatum dorsal region38.54
28.69
Ddx50STRvStriatum ventral region50.5
36
Ddx50THThalamus52.26
47.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004468 21 237 257 KLSVACFYGGTSYQSQINHIR 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