AutismKB 2.0

Annotation Detail for UBE3C


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Basic Information Top
Gene Symbol:UBE3C ( KIAA0010,KIAA10 )
Gene Full Name: ubiquitin protein ligase E3C
Band: 7q36.3
Quick LinksEntrez ID:9690; OMIM: NA; Uniprot ID:UBE3C_HUMAN; ENSEMBL ID: ENSG00000009335; HGNC ID: 16803
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
blastocyst5 / 6231980
fetus39 / 56401269
neonate7 / 31097225
infant2 / 2362084
juvenile4 / 5555671
adult166 / 193912185
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor15 / 94178159
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor17 / 114246148
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor34 / 263845128
glioma6 / 10688356
head and neck tumor23 / 136302168
kidney tumor7 / 68959101
leukemia4 / 9584241
liver tumor11 / 96359114
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia8 / 9725082
normal217 / 336030764
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer9 / 10268087
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites4 / 4001599
bladder4 / 29757134
blood3 / 12347824
bone5 / 7165569
bone marrow2 / 4880140
brain62 / 110098956
cervix2 / 4817141
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue27 / 215722125
esophagus1 / 2020949
eye11 / 21105452
heart1 / 8962611
intestine27 / 234472115
kidney19 / 21177789
larynx1 / 2414541
liver18 / 20774386
lung16 / 33697447
lymph1 / 4427022
lymph node15 / 91610163
mammary gland19 / 153271123
mouth8 / 67052119
muscle4 / 10771537
nerve1 / 1576863
ovary4 / 10205139
pancreas10 / 21481246
parathyroid4 / 20539194
pharynx9 / 41328217
pituitary gland1 / 1658560
placenta14 / 28082549
prostate12 / 18934563
salivary gland0 / 201550 
skin17 / 21057480
spleen0 / 539520 
stomach3 / 9661931
testis42 / 330442127
thymus5 / 8113161
thyroid6 / 47473126
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus17 / 23287872
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201817_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.1
Adipocyte11.25
AdrenalCortex10.95
Adrenalgland8.7
Amygdala17.5
Appendix9.9
AtrioventricularNode8.1
BDCA4+_DentriticCells20
Bonemarrow10.1
BronchialEpithelialCells47.5
CD105+_Endothelial45.45
CD14+_Monocytes17.85
CD19+_BCells(neg._sel.)12.45
CD33+_Myeloid32.75
CD34+40.3
CD4+_Tcells12.6
CD56+_NKCells14
CD71+_EarlyErythroid21.8
CD8+_Tcells17.95
CardiacMyocytes18.15
Caudatenucleus12.3
Cerebellum8.45
CerebellumPeduncles12.05
CiliaryGanglion6.95
CingulateCortex10.2
Colorectaladenocarcinoma52.6
DorsalRootGanglion7.6
FetalThyroid9.5
Fetalbrain17.85
Fetalliver8.55
Fetallung7.4
GlobusPallidus7.1
Heart14.3
Hypothalamus15.4
Kidney8
Leukemia_chronicMyelogenousK-56211.4
Leukemia_promyelocytic-HL-609
Leukemialymphoblastic(MOLT-4)12.85
Liver14.55
Lung23.6
Lymphnode8.1
Lymphoma_burkitts(Daudi)13.55
Lymphoma_burkitts(Raji)14.45
MedullaOblongata8
OccipitalLobe13.75
OlfactoryBulb7.35
Ovary6.55
Pancreas9.35
PancreaticIslet12.95
ParietalLobe10
Pituitary10.8
Placenta19.95
Pons8.9
PrefrontalCortex32.3
Prostate26.5
Salivarygland8.05
SkeletalMuscle12.6
Skin7.35
SmoothMuscle23.8
Spinalcord9.9
SubthalamicNucleus11.1
SuperiorCervicalGanglion8.7
TemporalLobe8.85
Testis25.45
TestisGermCell21.2
TestisIntersitial12.75
TestisLeydigCell12.45
TestisSeminiferousTubule9.65
Thalamus12.6
Thymus7.85
Thyroid11.35
Tongue9.75
Tonsil10.75
Trachea7.75
TrigeminalGanglion7.5
Uterus22.65
UterusCorpus8.9
WholeBlood14.65
Wholebrain22.7
colon11.45
pineal_day23.8
pineal_night41.92
retina22.85
small_intestine22.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P212443
  • 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
Amygdala5.63 ± 0.46
Basal Forebrain5.61 ± 0.29
Basal Part of Pons5.81 ± 0.38
Cerebellar Cortex6.01 ± 0.27
Cerebellar Nuclei5.52 ± 0.5
Claustrum5.73 ± 0.61
Epithalamus5.58 ± 0.27
Frontal Lobe5.68 ± 0.44
Globus Pallidus5.14 ± 0.43
Hypothalamus5.5 ± 0.57
Insula5.59 ± 0.44
Limbic Lobe5.69 ± 0.43
Mesencephalon5.59 ± 0.54
Myelencephalon5.57 ± 0.5
Occipital Lobe5.81 ± 0.4
Parietal Lobe5.63 ± 0.48
Pontine Tegmentum5.67 ± 0.49
Striatum5.44 ± 0.48
Subthalamus5.89 ± 0.52
Temporal Lobe5.65 ± 0.45
Thalamus5.63 ± 0.45
White Matter5.41 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube3cCBCerebellum17.4
22.03
Ube3cCTXCerebral cortex26.91
20.41
Ube3cHIPHippocampal region28.51
38.84
Ube3cHPFHippocampal formation25.09
28.64
Ube3cHYHypothalamus5.13
4.32
Ube3cLSXLateral septal complex8.03
5.55
Ube3cMBMidbrain10.78
11.17
Ube3cMYMedulla23.26
30.51
Ube3cOLFOlfactory bulb19.62
16.15
Ube3cPPons16.32
21.19
Ube3cPALPallidum5.6
5.13
Ube3cRHPRetrohippocampal region19.66
16.75
Ube3csAMYStriatum-like amygdalar nuclei3.9
3.16
Ube3cSTRStriatum8.1
5.78
Ube3cSTRdStriatum dorsal region8.11
5.87
Ube3cSTRvStriatum ventral region10.45
6.88
Ube3cTHThalamus18.92
16.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024746 23 415 437 DSASEEVFTTMASVCHTLMVQHR Peptide Atlas
UBE3C_HUMAN_470 15 470 484 MITGSMVPLLQVISR PRIDE
UBE3C_HUMAN_794 23 794 816 TTNEGLLYPNPAAQMLVGDSFAR 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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