AutismKB 2.0

Annotation Detail for UBA52


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Basic Information Top
Gene Symbol:UBA52 ( CEP52,HUBCEP52,MGC126879,MGC126881,MGC57125,RPL40 )
Gene Full Name: ubiquitin A-52 residue ribosomal protein fusion product 1
Band: 19p13.1-p12
Quick LinksEntrez ID:7311; OMIM: 191321; Uniprot ID:RL40_HUMAN; ENSEMBL ID: ENSG00000221983; HGNC ID: 12458
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 body14 / 70761197
blastocyst69 / 623191107
fetus163 / 564012289
neonate12 / 31097385
infant5 / 23620211
juvenile9 / 55556161
adult590 / 1939121304
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma3 / 17475171
breast (mammary gland) tumor29 / 94178307
cervical tumor5 / 34366145
chondrosarcoma23 / 82823277
colorectal tumor37 / 114246323
esophageal tumor4 / 17290231
gastrointestinal tumor24 / 119369201
germ cell tumor41 / 263845155
glioma17 / 106883159
head and neck tumor51 / 136302374
kidney tumor18 / 68959261
leukemia46 / 95842479
liver tumor35 / 96359363
lung tumor37 / 103127358
lymphoma22 / 71755306
non-neoplasia4 / 9725041
normal947 / 3360307281
ovarian tumor28 / 76682365
pancreatic tumor28 / 104616267
primitive neuroectodermal tumor of the CNS26 / 125680206
prostate cancer60 / 102680584
retinoblastoma8 / 46356172
skin tumor48 / 124949384
soft tissue/muscle tissue tumor37 / 125191295
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland9 / 33197271
ascites8 / 40015199
bladder4 / 29757134
blood50 / 123478404
bone26 / 71655362
bone marrow24 / 48801491
brain144 / 1100989130
cervix7 / 48171145
connective tissue17 / 149255113
ear6 / 16212370
embryonic tissue199 / 215722922
esophagus4 / 20209197
eye31 / 211054146
heart41 / 89626457
intestine68 / 234472290
kidney36 / 211777169
larynx4 / 24145165
liver85 / 207743409
lung104 / 336974308
lymph11 / 44270248
lymph node20 / 91610218
mammary gland42 / 153271274
mouth13 / 67052193
muscle98 / 107715909
nerve1 / 1576863
ovary37 / 102051362
pancreas42 / 214812195
parathyroid11 / 20539535
pharynx19 / 41328459
pituitary gland10 / 16585602
placenta48 / 280825170
prostate110 / 189345580
salivary gland3 / 20155148
skin86 / 210574408
spleen6 / 53952111
stomach18 / 96619186
testis34 / 330442102
thymus2 / 8113124
thyroid35 / 47473737
tonsil12 / 16999705
trachea0 / 524130 
umbilical cord12 / 13680877
uterus35 / 232878150
vascular26 / 51780502
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221700_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts3535.4
Adipocyte2431.4
AdrenalCortex1607
Adrenalgland1681
Amygdala782.85
Appendix1851.05
AtrioventricularNode558.95
BDCA4+_DentriticCells4751.75
Bonemarrow3080.05
BronchialEpithelialCells3675.1
CD105+_Endothelial4436
CD14+_Monocytes5820.2
CD19+_BCells(neg._sel.)6443.45
CD33+_Myeloid5077.3
CD34+6981.55
CD4+_Tcells4533.55
CD56+_NKCells4808.95
CD71+_EarlyErythroid3349.45
CD8+_Tcells4457.05
CardiacMyocytes3106.95
Caudatenucleus1089.8
Cerebellum752.2
CerebellumPeduncles1081.75
CiliaryGanglion574.65
CingulateCortex847.65
Colorectaladenocarcinoma1776.25
DorsalRootGanglion786.35
FetalThyroid2499.45
Fetalbrain1823.75
Fetalliver1422.6
Fetallung2332.75
GlobusPallidus331.15
Heart3941.85
Hypothalamus1589.3
Kidney1361.2
Leukemia_chronicMyelogenousK-5623059.25
Leukemia_promyelocytic-HL-602931.9
Leukemialymphoblastic(MOLT-4)3076.5
Liver2552.45
Lung2973.2
Lymphnode3275.2
Lymphoma_burkitts(Daudi)5223.55
Lymphoma_burkitts(Raji)3407.7
MedullaOblongata835.6
OccipitalLobe901.45
OlfactoryBulb1694.85
Ovary2196.55
Pancreas1649.75
PancreaticIslet2693.7
ParietalLobe731.85
Pituitary2059.85
Placenta1870.65
Pons651.8
PrefrontalCortex1438.3
Prostate2228.9
Salivarygland2129.25
SkeletalMuscle1832.35
Skin1172.95
SmoothMuscle3521.4
Spinalcord1715.4
SubthalamicNucleus631.55
SuperiorCervicalGanglion498.25
TemporalLobe935.05
Testis3279.4
TestisGermCell2495.95
TestisIntersitial2606.5
TestisLeydigCell2010.3
TestisSeminiferousTubule2378.5
Thalamus1094.35
Thymus3731.55
Thyroid1960.9
Tongue2021.15
Tonsil2759.7
Trachea1478.45
TrigeminalGanglion870
Uterus1499.2
UterusCorpus2116.45
WholeBlood4245.2
Wholebrain1345.3
colon1312.9
pineal_day1554.6
pineal_night1554.16
retina1775.425
small_intestine1232.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P65779
  • 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
Amygdala7.97 ± 0.18
Basal Forebrain7.89 ± 0.15
Basal Part of Pons8.04 ± 0.27
Cerebellar Cortex7.66 ± 0.19
Cerebellar Nuclei8.03 ± 0.23
Claustrum8.02 ± 0.3
Epithalamus7.55 ± 0.3
Frontal Lobe7.96 ± 0.27
Globus Pallidus8.39 ± 0.45
Hypothalamus8.18 ± 0.24
Insula8.09 ± 0.26
Limbic Lobe7.85 ± 0.41
Mesencephalon7.97 ± 0.31
Myelencephalon7.83 ± 0.35
Occipital Lobe7.41 ± 0.37
Parietal Lobe7.75 ± 0.27
Pontine Tegmentum7.81 ± 0.36
Striatum7.78 ± 0.24
Subthalamus8.12 ± 0.09
Temporal Lobe7.98 ± 0.31
Thalamus7.7 ± 0.27
White Matter8.05 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uba52CBCerebellum100
100
Uba52CTXCerebral cortex100
100
Uba52HIPHippocampal region100
100
Uba52HPFHippocampal formation100
100
Uba52HYHypothalamus100
100
Uba52LSXLateral septal complex100
100
Uba52MBMidbrain100
100
Uba52MYMedulla100
100
Uba52OLFOlfactory bulb100
100
Uba52PPons100
100
Uba52PALPallidum100
100
Uba52RHPRetrohippocampal region100
100
Uba52sAMYStriatum-like amygdalar nuclei100
100
Uba52STRStriatum100
100
Uba52STRdStriatum dorsal region100
100
Uba52STRvStriatum ventral region100
100
Uba52THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001014 10 115 124 CGHTNNLRPK 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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