AutismKB 2.0

Annotation Detail for UBE3B


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Basic Information Top
Gene Symbol:UBE3B ( DKFZp586K2123,DKFZp686A1051,FLJ45294,MGC131858,MGC78388 )
Gene Full Name: ubiquitin protein ligase E3B
Band: 12q24.11
Quick LinksEntrez ID:89910; OMIM: 608047; Uniprot ID:UBE3B_HUMAN; ENSEMBL ID: ENSG00000151148; HGNC ID: 13478
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 body0 / 707610 
blastocyst3 / 6231948
fetus73 / 564012129
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult131 / 193912167
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma13 / 106883121
head and neck tumor8 / 13630258
kidney tumor11 / 68959159
leukemia27 / 95842281
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma7 / 7175597
non-neoplasia3 / 9725030
normal244 / 336030772
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer7 / 10268068
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood12 / 12347897
bone7 / 7165597
bone marrow9 / 48801184
brain56 / 110098950
cervix3 / 4817162
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye23 / 211054108
heart6 / 8962666
intestine17 / 23447272
kidney25 / 211777118
larynx2 / 2414582
liver5 / 20774324
lung20 / 33697459
lymph5 / 44270112
lymph node22 / 91610240
mammary gland9 / 15327158
mouth5 / 6705274
muscle1 / 1077159
nerve0 / 157680 
ovary7 / 10205168
pancreas10 / 21481246
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta13 / 28082546
prostate15 / 18934579
salivary gland4 / 20155198
skin10 / 21057447
spleen3 / 5395255
stomach3 / 9661931
testis23 / 33044269
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212404_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.35
Adipocyte3.4
AdrenalCortex3.6
Adrenalgland2.9
Amygdala3.6
Appendix3.6
AtrioventricularNode2.7
BDCA4+_DentriticCells4.1
Bonemarrow3.4
BronchialEpithelialCells3.45
CD105+_Endothelial3.5
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid5.65
CD34+4.45
CD4+_Tcells3.85
CD56+_NKCells4.5
CD71+_EarlyErythroid4.75
CD8+_Tcells3.35
CardiacMyocytes4.4
Caudatenucleus3.05
Cerebellum2.8
CerebellumPeduncles3.85
CiliaryGanglion2.45
CingulateCortex3.5
Colorectaladenocarcinoma3.45
DorsalRootGanglion2.6
FetalThyroid3.35
Fetalbrain3.4
Fetalliver2.95
Fetallung2.8
GlobusPallidus2.5
Heart4.55
Hypothalamus3.75
Kidney2.85
Leukemia_chronicMyelogenousK-5623.1
Leukemia_promyelocytic-HL-603.05
Leukemialymphoblastic(MOLT-4)2.75
Liver4.55
Lung3.8
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.4
Lymphoma_burkitts(Raji)4.8
MedullaOblongata3.15
OccipitalLobe3.05
OlfactoryBulb2.65
Ovary2.25
Pancreas2.75
PancreaticIslet3.7
ParietalLobe3.65
Pituitary4
Placenta3.6
Pons3.25
PrefrontalCortex4.25
Prostate4
Salivarygland2.8
SkeletalMuscle4.25
Skin2.65
SmoothMuscle3.9
Spinalcord3.65
SubthalamicNucleus3.1
SuperiorCervicalGanglion4.15
TemporalLobe3.15
Testis2.95
TestisGermCell2.9
TestisIntersitial2.9
TestisLeydigCell3.6
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.7
Thyroid4.35
Tongue3.35
Tonsil3.35
Trachea2.9
TrigeminalGanglion3.45
Uterus2.8
UterusCorpus3.15
WholeBlood3.75
Wholebrain2.9
colon3.5
pineal_day4.32
pineal_night4.24
retina4.15
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6252_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
Amygdala3.56 ± 0.93
Basal Forebrain2.91 ± 0.23
Basal Part of Pons2.85 ± 0.35
Cerebellar Cortex3.58 ± 0.55
Cerebellar Nuclei3.36 ± 0.65
Claustrum3.36 ± 0.85
Epithalamus3.11 ± 0.6
Frontal Lobe3.18 ± 0.65
Globus Pallidus3.24 ± 0.73
Hypothalamus3.02 ± 0.52
Insula3.12 ± 0.56
Limbic Lobe3.19 ± 0.67
Mesencephalon3.36 ± 0.85
Myelencephalon3.24 ± 0.62
Occipital Lobe3.38 ± 0.71
Parietal Lobe3.13 ± 0.63
Pontine Tegmentum3.34 ± 0.63
Striatum3.09 ± 0.68
Subthalamus3.26 ± 0.56
Temporal Lobe3.23 ± 0.63
Thalamus3.17 ± 0.64
White Matter4.23 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube3bCBCerebellum25.42
42.52
Ube3bCTXCerebral cortex59.21
49.03
Ube3bHIPHippocampal region36.91
61.11
Ube3bHPFHippocampal formation34.58
45.37
Ube3bHYHypothalamus3.21
3.09
Ube3bLSXLateral septal complex2.28
1.67
Ube3bMBMidbrain11.52
13.3
Ube3bMYMedulla26.72
37.4
Ube3bOLFOlfactory bulb43.79
41.04
Ube3bPPons17.72
24.17
Ube3bPALPallidum6.99
6.91
Ube3bRHPRetrohippocampal region31.13
27.27
Ube3bsAMYStriatum-like amygdalar nuclei7.71
5.68
Ube3bSTRStriatum11.01
9.19
Ube3bSTRdStriatum dorsal region12.09
10.25
Ube3bSTRvStriatum ventral region11.91
9.7
Ube3bTHThalamus20.08
19.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00496772 22 406 427 LLESQEPAHAQPASPQNVLPVK 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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