AutismKB 2.0

Annotation Detail for RBX1


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Basic Information Top
Gene Symbol:RBX1 ( BA554C12.1,FLJ60363,MGC13357,MGC1481,RNF75,ROC1 )
Gene Full Name: ring-box 1, E3 ubiquitin protein ligase
Band: 22q13.2
Quick LinksEntrez ID:9978; OMIM: 603814; Uniprot ID:RBX1_HUMAN; ENSEMBL ID: ENSG00000100387,ENSG00000196236; HGNC ID: 9928
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 body4 / 7076156
blastocyst2 / 6231932
fetus43 / 56401276
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult129 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor11 / 26384541
glioma13 / 106883121
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal174 / 336030751
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer11 / 102680107
retinoblastoma2 / 4635643
skin tumor15 / 124949120
soft tissue/muscle tissue tumor47 / 125191375
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood5 / 12347840
bone10 / 71655139
bone marrow2 / 4880140
brain61 / 110098955
cervix1 / 4817120
connective tissue38 / 149255254
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye19 / 21105490
heart13 / 89626145
intestine6 / 23447225
kidney16 / 21177775
larynx2 / 2414582
liver15 / 20774372
lung17 / 33697450
lymph0 / 442700 
lymph node1 / 9161010
mammary gland6 / 15327139
mouth1 / 6705214
muscle6 / 10771555
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta14 / 28082549
prostate13 / 18934568
salivary gland4 / 20155198
skin16 / 21057475
spleen0 / 539520 
stomach2 / 9661920
testis9 / 33044227
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218117_at
Cell line Expression level Expression bar
721_B_lymphoblasts1420.8
Adipocyte362.3
AdrenalCortex241.95
Adrenalgland207.9
Amygdala335.5
Appendix123.55
AtrioventricularNode103.1
BDCA4+_DentriticCells956.4
Bonemarrow445.7
BronchialEpithelialCells974.8
CD105+_Endothelial1461.05
CD14+_Monocytes991.15
CD19+_BCells(neg._sel.)609.1
CD33+_Myeloid729.65
CD34+1000.2
CD4+_Tcells467.6
CD56+_NKCells516.15
CD71+_EarlyErythroid3276.75
CD8+_Tcells419.7
CardiacMyocytes647.7
Caudatenucleus241.5
Cerebellum224.6
CerebellumPeduncles453.75
CiliaryGanglion70.1
CingulateCortex374.2
Colorectaladenocarcinoma89.7
DorsalRootGanglion132.95
FetalThyroid373.85
Fetalbrain313.25
Fetalliver448.85
Fetallung341.25
GlobusPallidus209.5
Heart246.9
Hypothalamus621.95
Kidney188.15
Leukemia_chronicMyelogenousK-562307.35
Leukemia_promyelocytic-HL-60780.5
Leukemialymphoblastic(MOLT-4)618.35
Liver142.05
Lung443.6
Lymphnode219.65
Lymphoma_burkitts(Daudi)960.15
Lymphoma_burkitts(Raji)291.05
MedullaOblongata283
OccipitalLobe385.85
OlfactoryBulb278.5
Ovary123.15
Pancreas133.7
PancreaticIslet299.1
ParietalLobe398.05
Pituitary368.85
Placenta752.5
Pons254
PrefrontalCortex456.85
Prostate243.2
Salivarygland197.25
SkeletalMuscle274.15
Skin97.95
SmoothMuscle906.1
Spinalcord445.3
SubthalamicNucleus248.05
SuperiorCervicalGanglion99.25
TemporalLobe327.8
Testis390.2
TestisGermCell313.1
TestisIntersitial178.3
TestisLeydigCell192.15
TestisSeminiferousTubule218.1
Thalamus485.8
Thymus603.55
Thyroid267.3
Tongue309.45
Tonsil403.4
Trachea160.9
TrigeminalGanglion124.7
Uterus147.25
UterusCorpus178.25
WholeBlood720.8
Wholebrain453.6
colon294.65
pineal_day643.38
pineal_night587.08
retina607.85
small_intestine318.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10156_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
Amygdala9.12 ± 0.27
Basal Forebrain8.91 ± 0.2
Basal Part of Pons8.98 ± 0.21
Cerebellar Cortex9.04 ± 0.2
Cerebellar Nuclei9.08 ± 0.28
Claustrum8.79 ± 0.22
Epithalamus8.55 ± 0.24
Frontal Lobe9.02 ± 0.23
Globus Pallidus9.21 ± 0.14
Hypothalamus9.04 ± 0.38
Insula8.97 ± 0.24
Limbic Lobe8.98 ± 0.28
Mesencephalon8.95 ± 0.33
Myelencephalon8.97 ± 0.29
Occipital Lobe8.76 ± 0.2
Parietal Lobe8.95 ± 0.27
Pontine Tegmentum9 ± 0.21
Striatum8.76 ± 0.27
Subthalamus8.88 ± 0.16
Temporal Lobe9 ± 0.28
Thalamus8.94 ± 0.24
White Matter9.43 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbx1CBCerebellum37.73
50.31
Rbx1CTXCerebral cortex82.41
68.97
Rbx1HIPHippocampal region53.65
82.5
Rbx1HPFHippocampal formation60.6
75.15
Rbx1HYHypothalamus37.48
35.94
Rbx1LSXLateral septal complex30.96
22.78
Rbx1MBMidbrain52.52
55.08
Rbx1MYMedulla60.84
79.96
Rbx1OLFOlfactory bulb52.03
45.93
Rbx1PPons49.43
63.92
Rbx1PALPallidum41.19
44.32
Rbx1RHPRetrohippocampal region77.3
67.99
Rbx1sAMYStriatum-like amygdalar nuclei32.92
26.46
Rbx1STRStriatum36.34
28.49
Rbx1STRdStriatum dorsal region35.95
28.72
Rbx1STRvStriatum ventral region41.51
30.51
Rbx1THThalamus55.11
54.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RBX1_HUMAN_2 18 2 19 AAAMDVDTPSGTNSGAGK PRIDE
RBX1_HUMAN_2 20 2 21 AAAMDVDTPSGTNSGAGKKR PRIDE
RBX1_HUMAN_9 13 9 21 TPSGTNSGAGKKR 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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