AutismKB 2.0

Annotation Detail for UBE3A


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Basic Information Top
Gene Symbol:UBE3A ( ANCR,AS,E6-AP,EPVE6AP,FLJ26981,HPVE6A )
Gene Full Name: ubiquitin protein ligase E3A
Band: 15q11.2
Quick LinksEntrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062; HGNC ID: 12496
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 body7 / 7076198
blastocyst5 / 6231980
fetus62 / 564012109
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult205 / 1939121105
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor9 / 9417895
cervical tumor5 / 34366145
chondrosarcoma8 / 8282396
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor34 / 263845128
glioma9 / 10688384
head and neck tumor16 / 136302117
kidney tumor7 / 68959101
leukemia11 / 95842114
liver tumor8 / 9635983
lung tumor8 / 10312777
lymphoma17 / 71755236
non-neoplasia11 / 97250113
normal311 / 336030792
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer12 / 102680116
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites6 / 40015149
bladder5 / 29757168
blood2 / 12347816
bone6 / 7165583
bone marrow1 / 4880120
brain86 / 110098978
cervix5 / 48171103
connective tissue28 / 149255187
ear2 / 16212123
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye10 / 21105447
heart9 / 89626100
intestine26 / 234472110
kidney38 / 211777179
larynx7 / 24145289
liver13 / 20774362
lung32 / 33697494
lymph15 / 44270338
lymph node25 / 91610272
mammary gland17 / 153271110
mouth10 / 67052149
muscle11 / 107715102
nerve2 / 15768126
ovary4 / 10205139
pancreas12 / 21481255
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta27 / 28082596
prostate32 / 189345169
salivary gland1 / 2015549
skin8 / 21057437
spleen2 / 5395237
stomach4 / 9661941
testis41 / 330442124
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus18 / 23287877
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211575_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts79.7
Adipocyte12.3
AdrenalCortex16
Adrenalgland11.5
Amygdala20.7
Appendix17.9
AtrioventricularNode11.65
BDCA4+_DentriticCells34.55
Bonemarrow10.3
BronchialEpithelialCells14.35
CD105+_Endothelial17.65
CD14+_Monocytes18.45
CD19+_BCells(neg._sel.)18.7
CD33+_Myeloid26.4
CD34+23.75
CD4+_Tcells20.05
CD56+_NKCells22.95
CD71+_EarlyErythroid15.85
CD8+_Tcells19.35
CardiacMyocytes29.55
Caudatenucleus12.7
Cerebellum12.15
CerebellumPeduncles18.6
CiliaryGanglion9.2
CingulateCortex13.65
Colorectaladenocarcinoma11.45
DorsalRootGanglion11.65
FetalThyroid13
Fetalbrain22.4
Fetalliver12.8
Fetallung10.25
GlobusPallidus9.65
Heart19.35
Hypothalamus20.3
Kidney11.95
Leukemia_chronicMyelogenousK-56215.55
Leukemia_promyelocytic-HL-6041.85
Leukemialymphoblastic(MOLT-4)19.5
Liver16.8
Lung7.25
Lymphnode10.9
Lymphoma_burkitts(Daudi)27.6
Lymphoma_burkitts(Raji)22.6
MedullaOblongata13.35
OccipitalLobe13.25
OlfactoryBulb11.1
Ovary11.1
Pancreas10.1
PancreaticIslet14.75
ParietalLobe15.2
Pituitary26.95
Placenta10.65
Pons12.8
PrefrontalCortex21.1
Prostate13.25
Salivarygland12.2
SkeletalMuscle34.7
Skin10
SmoothMuscle15.95
Spinalcord13.1
SubthalamicNucleus15.1
SuperiorCervicalGanglion19.7
TemporalLobe15.35
Testis11.15
TestisGermCell32.75
TestisIntersitial27.65
TestisLeydigCell25.55
TestisSeminiferousTubule25.9
Thalamus18.75
Thymus8.55
Thyroid19.4
Tongue14.05
Tonsil13.55
Trachea10.7
TrigeminalGanglion19.55
Uterus8.8
UterusCorpus21.5
WholeBlood14.65
Wholebrain9.5
colon13.4
pineal_day33.02
pineal_night26.22
retina15.075
small_intestine9.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_664_PI416408490
  • 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
Amygdala7.95 ± 0.26
Basal Forebrain7.82 ± 0.21
Basal Part of Pons7.96 ± 0.17
Cerebellar Cortex7.91 ± 0.23
Cerebellar Nuclei7.8 ± 0.31
Claustrum7.83 ± 0.38
Epithalamus7.73 ± 0.3
Frontal Lobe7.93 ± 0.27
Globus Pallidus7.54 ± 0.21
Hypothalamus7.7 ± 0.27
Insula7.93 ± 0.16
Limbic Lobe8.04 ± 0.31
Mesencephalon7.76 ± 0.3
Myelencephalon7.78 ± 0.3
Occipital Lobe7.7 ± 0.34
Parietal Lobe7.78 ± 0.28
Pontine Tegmentum7.83 ± 0.24
Striatum7.67 ± 0.33
Subthalamus7.87 ± 0.37
Temporal Lobe7.92 ± 0.27
Thalamus7.7 ± 0.19
White Matter8.07 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube3aCBCerebellum2.39
2
Ube3aCTXCerebral cortex1.16
0.83
Ube3aHIPHippocampal region16.44
7.47
Ube3aHPFHippocampal formation10.82
5.09
Ube3aHYHypothalamus0.8
0.55
Ube3aLSXLateral septal complex1.2
0.73
Ube3aMBMidbrain0.52
0.54
Ube3aMYMedulla0.51
0.48
Ube3aOLFOlfactory bulb8.68
4.55
Ube3aPPons0.41
0.36
Ube3aPALPallidum0.53
0.39
Ube3aRHPRetrohippocampal region3.31
2.33
Ube3asAMYStriatum-like amygdalar nuclei0.89
0.55
Ube3aSTRStriatum0.9
0.64
Ube3aSTRdStriatum dorsal region0.52
0.47
Ube3aSTRvStriatum ventral region1.94
1.06
Ube3aTHThalamus0.24
0.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027031 17 292 308 NLHSPEYLEMALPLFCK Peptide Atlas
UBE3A_HUMAN_735 13 735 747 RGFHMVTNESPLK PRIDE

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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