AutismKB 2.0

Annotation Detail for UBR5


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Basic Information Top
Gene Symbol:UBR5 ( DD5,EDD,EDD1,FLJ11310,HYD,KIAA0896,MGC57263 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 5
Band: 8q22.3
Quick LinksEntrez ID:51366; OMIM: 608413; Uniprot ID:UBR5_HUMAN; ENSEMBL ID: ENSG00000104517; HGNC ID: 16806
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
blastocyst11 / 62319176
fetus55 / 56401297
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult193 / 193912199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma8 / 8282396
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma2 / 10688318
head and neck tumor25 / 136302183
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal277 / 336030782
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer7 / 10268068
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor34 / 125191271
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder2 / 2975767
blood6 / 12347848
bone4 / 7165555
bone marrow7 / 48801143
brain65 / 110098959
cervix2 / 4817141
connective tissue37 / 149255247
ear5 / 16212308
embryonic tissue22 / 215722101
esophagus1 / 2020949
eye19 / 21105490
heart7 / 8962678
intestine15 / 23447263
kidney9 / 21177742
larynx8 / 24145331
liver14 / 20774367
lung26 / 33697477
lymph2 / 4427045
lymph node18 / 91610196
mammary gland13 / 15327184
mouth11 / 67052164
muscle15 / 107715139
nerve2 / 15768126
ovary5 / 10205148
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta12 / 28082542
prostate13 / 18934568
salivary gland1 / 2015549
skin12 / 21057456
spleen1 / 5395218
stomach3 / 9661931
testis34 / 330442102
thymus9 / 81131110
thyroid5 / 47473105
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus18 / 23287877
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208882_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts36
Adipocyte6.75
AdrenalCortex6.75
Adrenalgland4.9
Amygdala8.45
Appendix6.95
AtrioventricularNode5.4
BDCA4+_DentriticCells8.2
Bonemarrow5.7
BronchialEpithelialCells6.05
CD105+_Endothelial7.5
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)13.95
CD33+_Myeloid8.4
CD34+10.2
CD4+_Tcells14.9
CD56+_NKCells11.75
CD71+_EarlyErythroid5.45
CD8+_Tcells14.85
CardiacMyocytes7.95
Caudatenucleus6
Cerebellum4.95
CerebellumPeduncles7.5
CiliaryGanglion4.85
CingulateCortex6.75
Colorectaladenocarcinoma5.7
DorsalRootGanglion5.2
FetalThyroid7.35
Fetalbrain13.9
Fetalliver5.05
Fetallung6.45
GlobusPallidus4.8
Heart7.15
Hypothalamus7.5
Kidney4.4
Leukemia_chronicMyelogenousK-5626.25
Leukemia_promyelocytic-HL-6013.1
Leukemialymphoblastic(MOLT-4)9.1
Liver7.15
Lung6.25
Lymphnode12.75
Lymphoma_burkitts(Daudi)27.35
Lymphoma_burkitts(Raji)17.9
MedullaOblongata6.95
OccipitalLobe6.65
OlfactoryBulb5.25
Ovary4.35
Pancreas5.75
PancreaticIslet6.8
ParietalLobe6.85
Pituitary8.7
Placenta5.5
Pons6.2
PrefrontalCortex28.55
Prostate8.55
Salivarygland5.2
SkeletalMuscle7.5
Skin6.25
SmoothMuscle7.2
Spinalcord6.25
SubthalamicNucleus6.4
SuperiorCervicalGanglion8.05
TemporalLobe6
Testis5.4
TestisGermCell5.7
TestisIntersitial4.9
TestisLeydigCell6.75
TestisSeminiferousTubule5.65
Thalamus6.5
Thymus5.05
Thyroid8.4
Tongue6.5
Tonsil10.9
Trachea5.35
TrigeminalGanglion7.2
Uterus18.25
UterusCorpus6.1
WholeBlood7.25
Wholebrain4.15
colon7.85
pineal_day22.86
pineal_night14.66
retina9.65
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7200_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
Amygdala9.11 ± 0.33
Basal Forebrain8.97 ± 0.14
Basal Part of Pons8.36 ± 0.28
Cerebellar Cortex8.7 ± 0.54
Cerebellar Nuclei8.48 ± 0.3
Claustrum8.96 ± 0.33
Epithalamus9.21 ± 0.35
Frontal Lobe8.59 ± 0.34
Globus Pallidus9.27 ± 0.3
Hypothalamus8.65 ± 0.31
Insula8.65 ± 0.32
Limbic Lobe8.89 ± 0.36
Mesencephalon8.88 ± 0.29
Myelencephalon8.8 ± 0.4
Occipital Lobe9.1 ± 0.37
Parietal Lobe8.81 ± 0.35
Pontine Tegmentum8.83 ± 0.39
Striatum9.15 ± 0.31
Subthalamus8.61 ± 0.29
Temporal Lobe8.69 ± 0.34
Thalamus8.76 ± 0.24
White Matter9.56 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Edd1CBCerebellum73.18
100
Edd1CTXCerebral cortex100
98.1
Edd1HIPHippocampal region100
100
Edd1HPFHippocampal formation84.82
100
Edd1HYHypothalamus89.78
74.2
Edd1LSXLateral septal complex100
98.54
Edd1MBMidbrain68.78
63.48
Edd1MYMedulla74.2
81.16
Edd1OLFOlfactory bulb100
100
Edd1PPons63.76
68.44
Edd1PALPallidum93.89
91.16
Edd1RHPRetrohippocampal region59.87
53.13
Edd1sAMYStriatum-like amygdalar nuclei100
100
Edd1STRStriatum100
100
Edd1STRdStriatum dorsal region100
100
Edd1STRvStriatum ventral region100
100
Edd1THThalamus100
98.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
UBR5_HUMAN_157 6 157 162 QTRVIR PRIDE
UBR5_HUMAN_2442 13 2442 2454 VDEAMELIIAHGR PRIDE
UBR5_HUMAN_322 11 322 332 WLDGASFDNER 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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