AutismKB 2.0

Annotation Detail for DDX47


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Basic Information Top
Gene Symbol:DDX47 ( DKFZp564O176,E4-DBP,FLJ30012,HQ0256,MSTP162,RRP3 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 47
Band: 12p13.1
Quick LinksEntrez ID:51202; OMIM: NA; Uniprot ID:DDX47_HUMAN; ENSEMBL ID: ENSG00000213782; HGNC ID: 18682
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 body8 / 70761113
blastocyst3 / 6231948
fetus46 / 56401281
neonate6 / 31097192
infant4 / 23620169
juvenile6 / 55556107
adult163 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma18 / 82823217
colorectal tumor4 / 11424635
esophageal tumor5 / 17290289
gastrointestinal tumor8 / 11936967
germ cell tumor26 / 26384598
glioma4 / 10688337
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia12 / 95842125
liver tumor8 / 9635983
lung tumor3 / 10312729
lymphoma7 / 7175597
non-neoplasia3 / 9725030
normal260 / 336030777
ovarian tumor7 / 7668291
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor11 / 12494988
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder5 / 29757168
blood13 / 123478105
bone13 / 71655181
bone marrow5 / 48801102
brain45 / 110098940
cervix7 / 48171145
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue26 / 215722120
esophagus7 / 20209346
eye12 / 21105456
heart2 / 8962622
intestine8 / 23447234
kidney11 / 21177751
larynx0 / 241450 
liver17 / 20774381
lung23 / 33697468
lymph6 / 44270135
lymph node7 / 9161076
mammary gland9 / 15327158
mouth3 / 6705244
muscle8 / 10771574
nerve0 / 157680 
ovary11 / 102051107
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx8 / 41328193
pituitary gland1 / 1658560
placenta44 / 280825156
prostate9 / 18934547
salivary gland1 / 2015549
skin15 / 21057471
spleen2 / 5395237
stomach7 / 9661972
testis26 / 33044278
thymus1 / 8113112
thyroid4 / 4747384
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord3 / 13680219
uterus19 / 23287881
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220890_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts510.6
Adipocyte73.55
AdrenalCortex32.05
Adrenalgland45.6
Amygdala63.65
Appendix18
AtrioventricularNode14.1
BDCA4+_DentriticCells325.4
Bonemarrow20
BronchialEpithelialCells314.5
CD105+_Endothelial270.25
CD14+_Monocytes167.55
CD19+_BCells(neg._sel.)366.45
CD33+_Myeloid275.5
CD34+355
CD4+_Tcells409.35
CD56+_NKCells233.75
CD71+_EarlyErythroid69
CD8+_Tcells353.55
CardiacMyocytes150.25
Caudatenucleus52.3
Cerebellum30.75
CerebellumPeduncles50.3
CiliaryGanglion45.05
CingulateCortex55.45
Colorectaladenocarcinoma103.6
DorsalRootGanglion45
FetalThyroid160.15
Fetalbrain104.4
Fetalliver70.2
Fetallung170.4
GlobusPallidus17.85
Heart14.45
Hypothalamus118.25
Kidney31.65
Leukemia_chronicMyelogenousK-56292.5
Leukemia_promyelocytic-HL-60124.45
Leukemialymphoblastic(MOLT-4)156.55
Liver50.6
Lung81.25
Lymphnode100.05
Lymphoma_burkitts(Daudi)198.1
Lymphoma_burkitts(Raji)120.3
MedullaOblongata46.45
OccipitalLobe47.45
OlfactoryBulb83.95
Ovary42.45
Pancreas76.6
PancreaticIslet94.1
ParietalLobe51.6
Pituitary89.7
Placenta107.35
Pons45.5
PrefrontalCortex78.9
Prostate70
Salivarygland50.25
SkeletalMuscle17.25
Skin47.1
SmoothMuscle279.95
Spinalcord102.5
SubthalamicNucleus27.65
SuperiorCervicalGanglion35.3
TemporalLobe24.45
Testis119.4
TestisGermCell141.2
TestisIntersitial49.45
TestisLeydigCell55.35
TestisSeminiferousTubule47.8
Thalamus63.6
Thymus90.8
Thyroid133.7
Tongue47.25
Tonsil100.45
Trachea60.25
TrigeminalGanglion10.3
Uterus104
UterusCorpus82.7
WholeBlood93.3
Wholebrain39.75
colon63
pineal_day117.46
pineal_night85.02
retina106.025
small_intestine71.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7082_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
Amygdala7.43 ± 0.23
Basal Forebrain7.37 ± 0.16
Basal Part of Pons7.3 ± 0.24
Cerebellar Cortex7.55 ± 0.16
Cerebellar Nuclei7.45 ± 0.25
Claustrum7.48 ± 0.29
Epithalamus7.3 ± 0.22
Frontal Lobe7.35 ± 0.21
Globus Pallidus7.54 ± 0.17
Hypothalamus7.22 ± 0.25
Insula7.38 ± 0.21
Limbic Lobe7.44 ± 0.19
Mesencephalon7.46 ± 0.28
Myelencephalon7.39 ± 0.24
Occipital Lobe7.53 ± 0.25
Parietal Lobe7.37 ± 0.2
Pontine Tegmentum7.41 ± 0.17
Striatum7.38 ± 0.19
Subthalamus7.4 ± 0.07
Temporal Lobe7.38 ± 0.2
Thalamus7.34 ± 0.19
White Matter7.95 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddx47CBCerebellum14.28
16.67
Ddx47CTXCerebral cortex24.27
16.44
Ddx47HIPHippocampal region20.36
19.26
Ddx47HPFHippocampal formation19.4
16.99
Ddx47HYHypothalamus15.2
12.88
Ddx47LSXLateral septal complex12.02
7.49
Ddx47MBMidbrain20.2
18.62
Ddx47MYMedulla26.66
28.45
Ddx47OLFOlfactory bulb22.96
16.99
Ddx47PPons20.3
21.46
Ddx47PALPallidum11.6
9.53
Ddx47RHPRetrohippocampal region18.58
14.29
Ddx47sAMYStriatum-like amygdalar nuclei4.43
3.11
Ddx47STRStriatum8.67
5.62
Ddx47STRdStriatum dorsal region7.39
4.88
Ddx47STRvStriatum ventral region14.98
8.97
Ddx47THThalamus21.57
17.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095570 22 28 49 DLGVTDVLCEACDQLGWTKPTK 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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