AutismKB 2.0

Annotation Detail for UBR4


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Basic Information Top
Gene Symbol:UBR4 ( FLJ41863,KIAA0462,KIAA1307,RBAF600,ZUBR1,p600 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 4
Band: 1p36.13
Quick LinksEntrez ID:23352; OMIM: 609890; Uniprot ID:UBR4_HUMAN; ENSEMBL ID: ENSG00000127481; HGNC ID: 30313
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
blastocyst18 / 62319288
fetus74 / 564012131
neonate10 / 31097321
infant3 / 23620127
juvenile9 / 55556161
adult430 / 1939121221
embryoid body1 / 7076114
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult2 / 19391211
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor22 / 94178233
cervical tumor3 / 3436687
chondrosarcoma14 / 82823169
colorectal tumor36 / 114246315
esophageal tumor4 / 17290231
gastrointestinal tumor40 / 119369335
germ cell tumor34 / 263845128
glioma6 / 10688356
head and neck tumor41 / 136302300
kidney tumor7 / 68959101
leukemia19 / 95842198
liver tumor16 / 96359166
lung tumor34 / 103127329
lymphoma12 / 71755167
non-neoplasia3 / 9725030
normal472 / 3360307140
ovarian tumor9 / 76682117
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer6 / 10268058
retinoblastoma2 / 4635643
skin tumor16 / 124949128
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor18 / 90257199
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal5 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites10 / 40015249
bladder2 / 2975767
blood20 / 123478161
bone23 / 71655320
bone marrow3 / 4880161
brain133 / 1100989120
cervix4 / 4817183
connective tissue17 / 149255113
ear2 / 16212123
embryonic tissue37 / 215722171
esophagus4 / 20209197
eye21 / 21105499
heart4 / 8962644
intestine52 / 234472221
kidney34 / 211777160
larynx17 / 24145704
liver26 / 207743125
lung66 / 336974195
lymph9 / 44270203
lymph node5 / 9161054
mammary gland37 / 153271241
mouth12 / 67052178
muscle20 / 107715185
nerve4 / 15768253
ovary11 / 102051107
pancreas21 / 21481297
parathyroid0 / 205390 
pharynx9 / 41328217
pituitary gland1 / 1658560
placenta63 / 280825224
prostate17 / 18934589
salivary gland1 / 2015549
skin27 / 210574128
spleen7 / 53952129
stomach31 / 96619320
testis77 / 330442233
thymus16 / 81131197
thyroid6 / 47473126
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord9 / 13680657
uterus31 / 232878133
vascular2 / 5178038
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211950_at
Cell line Expression level Expression bar
721_B_lymphoblasts164.15
Adipocyte31.8
AdrenalCortex23.8
Adrenalgland15.2
Amygdala34.85
Appendix7.7
AtrioventricularNode4.25
BDCA4+_DentriticCells102.55
Bonemarrow42.9
BronchialEpithelialCells55.6
CD105+_Endothelial138.2
CD14+_Monocytes195.25
CD19+_BCells(neg._sel.)47.6
CD33+_Myeloid363.35
CD34+200.65
CD4+_Tcells215.8
CD56+_NKCells86.9
CD71+_EarlyErythroid201.5
CD8+_Tcells196.15
CardiacMyocytes10.15
Caudatenucleus12.55
Cerebellum22.7
CerebellumPeduncles17.35
CiliaryGanglion8.35
CingulateCortex25.35
Colorectaladenocarcinoma59.45
DorsalRootGanglion4.3
FetalThyroid32.15
Fetalbrain62.35
Fetalliver24.2
Fetallung43.05
GlobusPallidus9.95
Heart12.95
Hypothalamus61
Kidney36.45
Leukemia_chronicMyelogenousK-562162.6
Leukemia_promyelocytic-HL-60112.25
Leukemialymphoblastic(MOLT-4)57.3
Liver27.5
Lung49.55
Lymphnode36.3
Lymphoma_burkitts(Daudi)45.9
Lymphoma_burkitts(Raji)171.85
MedullaOblongata23.05
OccipitalLobe20.3
OlfactoryBulb24.45
Ovary5.3
Pancreas26.05
PancreaticIslet23.3
ParietalLobe16.05
Pituitary18.9
Placenta97.35
Pons9.4
PrefrontalCortex119.5
Prostate52.25
Salivarygland10.8
SkeletalMuscle15.9
Skin91
SmoothMuscle34.95
Spinalcord35.1
SubthalamicNucleus11.55
SuperiorCervicalGanglion6.3
TemporalLobe12
Testis167.4
TestisGermCell319.3
TestisIntersitial119.6
TestisLeydigCell79.2
TestisSeminiferousTubule185.3
Thalamus42.55
Thymus53.8
Thyroid30.35
Tongue13.6
Tonsil34.8
Trachea10.95
TrigeminalGanglion5.55
Uterus44.4
UterusCorpus10.55
WholeBlood51.05
Wholebrain25.45
colon15.55
pineal_day139.08
pineal_night105.88
retina143
small_intestine16.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2279_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
Amygdala7.03 ± 0.59
Basal Forebrain7.38 ± 0.29
Basal Part of Pons7.69 ± 0.33
Cerebellar Cortex7.67 ± 0.37
Cerebellar Nuclei7.14 ± 0.4
Claustrum7.01 ± 0.47
Epithalamus7.4 ± 0.39
Frontal Lobe7.61 ± 0.37
Globus Pallidus6.97 ± 0.15
Hypothalamus7.62 ± 0.36
Insula7.7 ± 0.28
Limbic Lobe7.35 ± 0.41
Mesencephalon7.4 ± 0.38
Myelencephalon7.41 ± 0.45
Occipital Lobe7.08 ± 0.43
Parietal Lobe7.38 ± 0.41
Pontine Tegmentum7.34 ± 0.43
Striatum7.01 ± 0.34
Subthalamus7.33 ± 0.27
Temporal Lobe7.56 ± 0.38
Thalamus7.52 ± 0.38
White Matter7.2 ± 0.31
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005677 37 1249 1285 NAFANDTIPSESYISAVQAAHLGTLCSQSLPLAASLK Peptide Atlas
UBR4_HUMAN_4608 11 4608 4618 SNPSVLQGLLR 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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