AutismKB 2.0

Annotation Detail for URB1


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Basic Information Top
Gene Symbol:URB1 ( C21orf108,KIAA0539,NPA1 )
Gene Full Name: URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Band: 21q22.11
Quick LinksEntrez ID:9875; OMIM: 608865; Uniprot ID:NPA1P_HUMAN; ENSEMBL ID: ENSG00000142207; HGNC ID: 17344
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
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult59 / 193912130
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal51 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites12 / 40015299
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow0 / 488010 
brain18 / 110098916
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine8 / 23447234
kidney1 / 2117774
larynx0 / 241450 
liver7 / 20774333
lung5 / 33697414
lymph3 / 4427067
lymph node0 / 916100 
mammary gland1 / 1532716
mouth2 / 6705229
muscle3 / 10771527
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate7 / 18934536
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach1 / 9661910
testis3 / 3304429
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208395_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.15
AdrenalCortex4.55
Adrenalgland3.6
Amygdala4.35
Appendix4.3
AtrioventricularNode3.25
BDCA4+_DentriticCells4.6
Bonemarrow4.1
BronchialEpithelialCells4.2
CD105+_Endothelial4.25
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.4
CD34+6.7
CD4+_Tcells4.55
CD56+_NKCells5.05
CD71+_EarlyErythroid3.9
CD8+_Tcells4.05
CardiacMyocytes5.3
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.75
CiliaryGanglion2.9
CingulateCortex4.35
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.3
FetalThyroid4.1
Fetalbrain4.2
Fetalliver3.7
Fetallung3.45
GlobusPallidus3.15
Heart5.6
Hypothalamus4.55
Kidney3.4
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver5.65
Lung4.65
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.4
Lymphoma_burkitts(Raji)6
MedullaOblongata3.9
OccipitalLobe3.8
OlfactoryBulb3.3
Ovary2.8
Pancreas3.35
PancreaticIslet4.5
ParietalLobe4.5
Pituitary4.9
Placenta4.25
Pons4
PrefrontalCortex5.3
Prostate4.9
Salivarygland3.4
SkeletalMuscle5.35
Skin3.5
SmoothMuscle4.8
Spinalcord4.5
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.9
TemporalLobe3.85
Testis3.6
TestisGermCell3.55
TestisIntersitial3.55
TestisLeydigCell4.15
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.3
Thyroid5.2
Tongue4.2
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.2
Uterus3.4
UterusCorpus3.85
WholeBlood4.6
Wholebrain3.45
colon4.25
pineal_day5.26
pineal_night5.16
retina5.125
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P57293
  • 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
Amygdala4.45 ± 0.43
Basal Forebrain4.45 ± 0.2
Basal Part of Pons4.81 ± 0.33
Cerebellar Cortex4.43 ± 0.29
Cerebellar Nuclei4.7 ± 0.45
Claustrum4.41 ± 0.65
Epithalamus5.14 ± 0.44
Frontal Lobe4.73 ± 0.37
Globus Pallidus4.88 ± 0.28
Hypothalamus4.51 ± 0.37
Insula4.69 ± 0.42
Limbic Lobe4.76 ± 0.38
Mesencephalon4.66 ± 0.44
Myelencephalon4.72 ± 0.4
Occipital Lobe4.76 ± 0.37
Parietal Lobe4.66 ± 0.37
Pontine Tegmentum4.63 ± 0.4
Striatum4.72 ± 0.42
Subthalamus4.84 ± 0.37
Temporal Lobe4.71 ± 0.35
Thalamus4.51 ± 0.35
White Matter5.49 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4921511H13RikCBCerebellum2.89
3.19
4921511H13RikCTXCerebral cortex5.22
3.57
4921511H13RikHIPHippocampal region7.07
6.31
4921511H13RikHPFHippocampal formation6.7
5.37
4921511H13RikHYHypothalamus0.33
0.69
4921511H13RikLSXLateral septal complex0.46
0.43
4921511H13RikMBMidbrain0.53
0.56
4921511H13RikMYMedulla4.21
5.03
4921511H13RikOLFOlfactory bulb5.95
3.95
4921511H13RikPPons0.8
0.74
4921511H13RikPALPallidum0.23
0.57
4921511H13RikRHPRetrohippocampal region6.11
4.08
4921511H13RiksAMYStriatum-like amygdalar nuclei0.64
0.42
4921511H13RikSTRStriatum1.46
0.99
4921511H13RikSTRdStriatum dorsal region1.28
0.86
4921511H13RikSTRvStriatum ventral region3
1.99
4921511H13RikTHThalamus1.08
0.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NPA1P_HUMAN_2103 15 2103 2117 SHILPHPVVVADLLK PRIDE
NPA1P_HUMAN_4 8 4 11 KEELTGVR PRIDE
PAp00065013 17 2224 2240 DIWLGAQRPDTLLTHVR 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