AutismKB 2.0

Annotation Detail for UBR2


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Basic Information Top
Gene Symbol:UBR2 ( C6orf133,DKFZp686C08114,FLJ36357,KIAA0349,MGC71112,RP3-392M17.3,bA49A4.1,dJ242G1.1,dJ392M17.3 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 2
Band: 6p21.1
Quick LinksEntrez ID:23304; OMIM: 609134; Uniprot ID:UBR2_HUMAN; ENSEMBL ID: ENSG00000024048; HGNC ID: 21289
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 body2 / 7076128
blastocyst0 / 623190 
fetus47 / 56401283
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult73 / 193912137
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal167 / 336030749
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow0 / 488010 
brain32 / 110098929
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye8 / 21105437
heart2 / 8962622
intestine9 / 23447238
kidney13 / 21177761
larynx1 / 2414541
liver4 / 20774319
lung15 / 33697444
lymph0 / 442700 
lymph node5 / 9161054
mammary gland0 / 1532710 
mouth9 / 67052134
muscle11 / 107715102
nerve1 / 1576863
ovary4 / 10205139
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta10 / 28082535
prostate4 / 18934521
salivary gland0 / 201550 
skin2 / 2105749
spleen4 / 5395274
stomach2 / 9661920
testis8 / 33044224
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus14 / 23287860
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212756_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts61.6
Adipocyte12.2
AdrenalCortex15.5
Adrenalgland8.95
Amygdala8.85
Appendix17.65
AtrioventricularNode7.85
BDCA4+_DentriticCells96.45
Bonemarrow17.5
BronchialEpithelialCells17.95
CD105+_Endothelial11
CD14+_Monocytes67.65
CD19+_BCells(neg._sel.)66.3
CD33+_Myeloid66.9
CD34+27.5
CD4+_Tcells81.65
CD56+_NKCells51.9
CD71+_EarlyErythroid147.95
CD8+_Tcells57.85
CardiacMyocytes14.9
Caudatenucleus9.4
Cerebellum7.95
CerebellumPeduncles9.65
CiliaryGanglion6.35
CingulateCortex10.9
Colorectaladenocarcinoma10.7
DorsalRootGanglion8.2
FetalThyroid11.35
Fetalbrain8.65
Fetalliver22.15
Fetallung18.3
GlobusPallidus7.7
Heart13.5
Hypothalamus11.05
Kidney8.15
Leukemia_chronicMyelogenousK-56218.05
Leukemia_promyelocytic-HL-609.05
Leukemialymphoblastic(MOLT-4)14.15
Liver13.55
Lung10.85
Lymphnode10.4
Lymphoma_burkitts(Daudi)13.6
Lymphoma_burkitts(Raji)43.35
MedullaOblongata9.65
OccipitalLobe9.05
OlfactoryBulb11.1
Ovary8.4
Pancreas17.8
PancreaticIslet15.35
ParietalLobe10.75
Pituitary18.3
Placenta11.2
Pons9.95
PrefrontalCortex16.05
Prostate11.35
Salivarygland9.35
SkeletalMuscle31.6
Skin8.6
SmoothMuscle22.65
Spinalcord12
SubthalamicNucleus9.35
SuperiorCervicalGanglion12.5
TemporalLobe9.35
Testis8.65
TestisGermCell20.4
TestisIntersitial8.25
TestisLeydigCell12.2
TestisSeminiferousTubule21.5
Thalamus9.85
Thymus17.25
Thyroid14.15
Tongue14.6
Tonsil15.05
Trachea9.4
TrigeminalGanglion11.15
Uterus9.35
UterusCorpus18.3
WholeBlood177.85
Wholebrain5.95
colon27
pineal_day22.36
pineal_night18.2
retina17.9
small_intestine12.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4829_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
Amygdala6.82 ± 0.38
Basal Forebrain6.83 ± 0.13
Basal Part of Pons6.87 ± 0.32
Cerebellar Cortex7.12 ± 0.18
Cerebellar Nuclei6.92 ± 0.25
Claustrum6.71 ± 0.33
Epithalamus6.9 ± 0.31
Frontal Lobe6.8 ± 0.34
Globus Pallidus6.87 ± 0.22
Hypothalamus6.87 ± 0.23
Insula6.86 ± 0.14
Limbic Lobe6.85 ± 0.31
Mesencephalon6.86 ± 0.3
Myelencephalon6.86 ± 0.3
Occipital Lobe7.15 ± 0.26
Parietal Lobe6.94 ± 0.24
Pontine Tegmentum6.92 ± 0.25
Striatum6.8 ± 0.3
Subthalamus6.78 ± 0.45
Temporal Lobe6.85 ± 0.27
Thalamus6.95 ± 0.28
White Matter7.65 ± 0.18
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00066811 21 1004 1024 ESSPTSPVAETEGTIMEESSR Peptide Atlas
UBR2_HUMAN_2 13 2 14 ASELEPEVQAIDR 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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