AutismKB 2.0

Annotation Detail for USP46


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Basic Information Top
Gene Symbol:USP46 ( FLJ11850,FLJ12552,FLJ14283,FLJ39393 )
Gene Full Name: ubiquitin specific peptidase 46
Band: 4q12
Quick LinksEntrez ID:64854; OMIM: 612849; Uniprot ID:UBP46_HUMAN; ENSEMBL ID: ENSG00000109189; HGNC ID: 20075
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
blastocyst4 / 6231964
fetus44 / 56401278
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult80 / 193912141
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor15 / 26384556
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal214 / 336030763
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain115 / 1100989104
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung9 / 33697426
lymph0 / 442700 
lymph node2 / 9161021
mammary gland6 / 15327139
mouth3 / 6705244
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta17 / 28082560
prostate3 / 18934515
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach10 / 96619103
testis28 / 33044284
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203870_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.6
Adipocyte7.15
AdrenalCortex9.5
Adrenalgland6.8
Amygdala210.5
Appendix9.25
AtrioventricularNode30.95
BDCA4+_DentriticCells7.35
Bonemarrow8.15
BronchialEpithelialCells7.9
CD105+_Endothelial8.85
CD14+_Monocytes7.8
CD19+_BCells(neg._sel.)7.35
CD33+_Myeloid9.05
CD34+11.8
CD4+_Tcells7.4
CD56+_NKCells8.45
CD71+_EarlyErythroid7
CD8+_Tcells6.1
CardiacMyocytes13.2
Caudatenucleus27.8
Cerebellum38.8
CerebellumPeduncles16.65
CiliaryGanglion6.8
CingulateCortex32
Colorectaladenocarcinoma7.05
DorsalRootGanglion14.75
FetalThyroid7.65
Fetalbrain54.55
Fetalliver6.75
Fetallung5.55
GlobusPallidus23.85
Heart12.7
Hypothalamus85.2
Kidney6.8
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)5.75
Liver11.5
Lung7.75
Lymphnode5.9
Lymphoma_burkitts(Daudi)9.65
Lymphoma_burkitts(Raji)11.5
MedullaOblongata34.85
OccipitalLobe45
OlfactoryBulb115.4
Ovary5.6
Pancreas6.15
PancreaticIslet8.1
ParietalLobe13.5
Pituitary8.75
Placenta9.8
Pons8.65
PrefrontalCortex189.05
Prostate8.4
Salivarygland6.45
SkeletalMuscle11.35
Skin7.85
SmoothMuscle8.4
Spinalcord49
SubthalamicNucleus25.9
SuperiorCervicalGanglion11.6
TemporalLobe11.05
Testis6.25
TestisGermCell5.85
TestisIntersitial6.3
TestisLeydigCell7.75
TestisSeminiferousTubule5.95
Thalamus19.65
Thymus5.35
Thyroid8.8
Tongue8.55
Tonsil7.3
Trachea6.15
TrigeminalGanglion10.4
Uterus7.3
UterusCorpus7.6
WholeBlood7.7
Wholebrain100.9
colon7.05
pineal_day158.02
pineal_night176.68
retina22.6
small_intestine6.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P81180
  • 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
Amygdala8.19 ± 0.16
Basal Forebrain8.02 ± 0.09
Basal Part of Pons7.4 ± 0.2
Cerebellar Cortex7.81 ± 0.3
Cerebellar Nuclei7.53 ± 0.35
Claustrum8.14 ± 0.34
Epithalamus8.08 ± 0.39
Frontal Lobe7.76 ± 0.25
Globus Pallidus7.84 ± 0.18
Hypothalamus7.77 ± 0.19
Insula7.91 ± 0.2
Limbic Lobe7.99 ± 0.35
Mesencephalon7.87 ± 0.21
Myelencephalon7.85 ± 0.31
Occipital Lobe8 ± 0.3
Parietal Lobe7.87 ± 0.28
Pontine Tegmentum7.92 ± 0.21
Striatum7.86 ± 0.23
Subthalamus7.85 ± 0.08
Temporal Lobe7.98 ± 0.25
Thalamus7.73 ± 0.23
White Matter7.14 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Usp46CBCerebellum23.67
31.89
Usp46CTXCerebral cortex64.27
64.84
Usp46HIPHippocampal region50
88.2
Usp46HPFHippocampal formation58.91
87.4
Usp46HYHypothalamus6.76
5.94
Usp46LSXLateral septal complex23.04
22.77
Usp46MBMidbrain6.9
7.35
Usp46MYMedulla12.72
15.84
Usp46OLFOlfactory bulb69.56
86.07
Usp46PPons9.32
11.49
Usp46PALPallidum10.96
12.7
Usp46RHPRetrohippocampal region69.94
80
Usp46sAMYStriatum-like amygdalar nuclei24.95
26.24
Usp46STRStriatum11.51
12.08
Usp46STRdStriatum dorsal region7.24
8.75
Usp46STRvStriatum ventral region13.46
11.04
Usp46THThalamus6.17
7.24
Peptide Top

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