AutismKB 2.0

Annotation Detail for USP47


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Basic Information Top
Gene Symbol:USP47 ( DKFZp686C13257,FLJ20727,TRFP )
Gene Full Name: ubiquitin specific peptidase 47
Band: 11p15.3
Quick LinksEntrez ID:55031; OMIM: NA; Uniprot ID:UBP47_HUMAN; ENSEMBL ID: ENSG00000170242; HGNC ID: 20076
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
blastocyst2 / 6231932
fetus53 / 56401293
neonate2 / 3109764
infant1 / 2362042
juvenile3 / 5555653
adult97 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor15 / 26384556
glioma9 / 10688384
head and neck tumor6 / 13630244
kidney tumor10 / 68959145
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal238 / 336030770
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma4 / 4635686
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder2 / 2975767
blood4 / 12347832
bone2 / 7165527
bone marrow1 / 4880120
brain61 / 110098955
cervix3 / 4817162
connective tissue9 / 14925560
ear3 / 16212185
embryonic tissue10 / 21572246
esophagus3 / 20209148
eye20 / 21105494
heart3 / 8962633
intestine10 / 23447242
kidney23 / 211777108
larynx1 / 2414541
liver11 / 20774352
lung26 / 33697477
lymph0 / 442700 
lymph node6 / 9161065
mammary gland4 / 15327126
mouth8 / 67052119
muscle10 / 10771592
nerve2 / 15768126
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta19 / 28082567
prostate19 / 189345100
salivary gland1 / 2015549
skin11 / 21057452
spleen1 / 5395218
stomach4 / 9661941
testis18 / 33044254
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord2 / 13680146
uterus18 / 23287877
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221518_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts457.5
Adipocyte93.35
AdrenalCortex115.95
Adrenalgland31.75
Amygdala143
Appendix91.6
AtrioventricularNode48.45
BDCA4+_DentriticCells348.2
Bonemarrow39.7
BronchialEpithelialCells73.1
CD105+_Endothelial140.75
CD14+_Monocytes152.75
CD19+_BCells(neg._sel.)406.45
CD33+_Myeloid297.35
CD34+405.2
CD4+_Tcells542.5
CD56+_NKCells984
CD71+_EarlyErythroid180.05
CD8+_Tcells462.45
CardiacMyocytes87.4
Caudatenucleus92.75
Cerebellum39.8
CerebellumPeduncles91.95
CiliaryGanglion38.1
CingulateCortex88.05
Colorectaladenocarcinoma118.85
DorsalRootGanglion62.45
FetalThyroid148.4
Fetalbrain100.1
Fetalliver70.65
Fetallung125.45
GlobusPallidus69.9
Heart38.6
Hypothalamus252.55
Kidney26.85
Leukemia_chronicMyelogenousK-56286.1
Leukemia_promyelocytic-HL-6089.9
Leukemialymphoblastic(MOLT-4)125.8
Liver32
Lung35.05
Lymphnode109.5
Lymphoma_burkitts(Daudi)170.35
Lymphoma_burkitts(Raji)91.35
MedullaOblongata105.8
OccipitalLobe107.05
OlfactoryBulb165.1
Ovary58.4
Pancreas129.45
PancreaticIslet122.6
ParietalLobe111.7
Pituitary326.65
Placenta52.1
Pons72.85
PrefrontalCortex518.5
Prostate95.7
Salivarygland73.35
SkeletalMuscle102.65
Skin47.95
SmoothMuscle132.25
Spinalcord137.8
SubthalamicNucleus111.4
SuperiorCervicalGanglion57.05
TemporalLobe61.25
Testis42.4
TestisGermCell150.45
TestisIntersitial110.55
TestisLeydigCell105
TestisSeminiferousTubule97.45
Thalamus131.55
Thymus39
Thyroid142
Tongue151.35
Tonsil97.45
Trachea61.7
TrigeminalGanglion51.95
Uterus178.85
UterusCorpus89.75
WholeBlood96.6
Wholebrain37.55
colon90.25
pineal_day317.32
pineal_night280.9
retina95.15
small_intestine46.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P403588
  • 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
Amygdala6.12 ± 0.61
Basal Forebrain6.33 ± 0.24
Basal Part of Pons6.25 ± 0.35
Cerebellar Cortex6.66 ± 0.6
Cerebellar Nuclei6.5 ± 0.33
Claustrum5.58 ± 0.49
Epithalamus6.5 ± 0.33
Frontal Lobe6.29 ± 0.37
Globus Pallidus6.14 ± 0.2
Hypothalamus6.59 ± 0.32
Insula6.29 ± 0.29
Limbic Lobe6.21 ± 0.45
Mesencephalon6.12 ± 0.43
Myelencephalon6.21 ± 0.53
Occipital Lobe6.12 ± 0.53
Parietal Lobe6.34 ± 0.54
Pontine Tegmentum6.28 ± 0.53
Striatum5.94 ± 0.4
Subthalamus6.47 ± 0.1
Temporal Lobe6.28 ± 0.4
Thalamus6.06 ± 0.48
White Matter6.79 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Usp47CBCerebellum23.9
25.95
Usp47CTXCerebral cortex60.73
47.04
Usp47HIPHippocampal region52.66
81.92
Usp47HPFHippocampal formation52.4
64.63
Usp47HYHypothalamus32.65
26.09
Usp47LSXLateral septal complex39.16
29.02
Usp47MBMidbrain38.51
35.43
Usp47MYMedulla35.96
40.79
Usp47OLFOlfactory bulb51.17
43.25
Usp47PPons33.73
37.48
Usp47PALPallidum35.81
32.09
Usp47RHPRetrohippocampal region52.59
44.3
Usp47sAMYStriatum-like amygdalar nuclei29.67
23.58
Usp47STRStriatum24.2
18.14
Usp47STRdStriatum dorsal region19.06
14.66
Usp47STRvStriatum ventral region32.54
22.18
Usp47THThalamus34.51
29.04
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00033552 19 837 855 ELEQHIQTSDPENFQSEER 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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