AutismKB 2.0

Annotation Detail for RB1


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Basic Information Top
Gene Symbol:RB1 ( OSRC,RB,p105-Rb,pRb,pp110 )
Gene Full Name: retinoblastoma 1
Band: 13q14.2
Quick LinksEntrez ID:5925; OMIM: 180200; Uniprot ID:RB_HUMAN; ENSEMBL ID: ENSG00000139687; HGNC ID: 9884
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
blastocyst4 / 6231964
fetus19 / 56401233
neonate3 / 3109796
infant0 / 236200 
juvenile0 / 555560 
adult96 / 193912149
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor16 / 26384560
glioma8 / 10688374
head and neck tumor15 / 136302110
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia10 / 97250102
normal146 / 336030743
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder3 / 29757100
blood7 / 12347856
bone2 / 7165527
bone marrow2 / 4880140
brain40 / 110098936
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine6 / 23447225
kidney9 / 21177742
larynx5 / 24145207
liver7 / 20774333
lung3 / 3369748
lymph1 / 4427022
lymph node16 / 91610174
mammary gland10 / 15327165
mouth5 / 6705274
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta23 / 28082581
prostate6 / 18934531
salivary gland1 / 2015549
skin12 / 21057456
spleen1 / 5395218
stomach1 / 9661910
testis30 / 33044290
thymus7 / 8113186
thyroid5 / 47473105
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211540_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.95
Adipocyte6.15
AdrenalCortex7.5
Adrenalgland5.6
Amygdala6.25
Appendix7.9
AtrioventricularNode6.55
BDCA4+_DentriticCells6.15
Bonemarrow6.5
BronchialEpithelialCells5.8
CD105+_Endothelial6.4
CD14+_Monocytes6.55
CD19+_BCells(neg._sel.)6.5
CD33+_Myeloid7.55
CD34+7.45
CD4+_Tcells6.3
CD56+_NKCells6.7
CD71+_EarlyErythroid6.05
CD8+_Tcells5.35
CardiacMyocytes9.7
Caudatenucleus5.6
Cerebellum5.15
CerebellumPeduncles7.55
CiliaryGanglion7.8
CingulateCortex6.7
Colorectaladenocarcinoma6.25
DorsalRootGanglion5.9
FetalThyroid6.15
Fetalbrain6
Fetalliver5.55
Fetallung4.75
GlobusPallidus4.85
Heart8.3
Hypothalamus6.5
Kidney5.85
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)4.9
Liver8.5
Lung6.75
Lymphnode5.2
Lymphoma_burkitts(Daudi)8.2
Lymphoma_burkitts(Raji)9.35
MedullaOblongata5.7
OccipitalLobe5.55
OlfactoryBulb4.9
Ovary5.35
Pancreas5.1
PancreaticIslet6.7
ParietalLobe6.95
Pituitary7.6
Placenta6.2
Pons6.5
PrefrontalCortex7.4
Prostate7.1
Salivarygland5.7
SkeletalMuscle8.6
Skin5.95
SmoothMuscle7
Spinalcord6.65
SubthalamicNucleus6.85
SuperiorCervicalGanglion9.6
TemporalLobe5.85
Testis5.3
TestisGermCell5.05
TestisIntersitial5.9
TestisLeydigCell6.65
TestisSeminiferousTubule5.45
Thalamus6.5
Thymus4.7
Thyroid7.45
Tongue7.25
Tonsil7.1
Trachea5.2
TrigeminalGanglion9.1
Uterus4.9
UterusCorpus6.25
WholeBlood6.65
Wholebrain4.9
colon6.25
pineal_day7.36
pineal_night7.18
retina7.275
small_intestine5.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P102636
  • 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
Amygdala6.18 ± 0.28
Basal Forebrain6.32 ± 0.25
Basal Part of Pons6.18 ± 0.26
Cerebellar Cortex6.63 ± 0.24
Cerebellar Nuclei6.43 ± 0.3
Claustrum6.18 ± 0.4
Epithalamus6.74 ± 0.21
Frontal Lobe6.38 ± 0.32
Globus Pallidus6.46 ± 0.23
Hypothalamus6.6 ± 0.33
Insula6.37 ± 0.29
Limbic Lobe6.37 ± 0.29
Mesencephalon6.47 ± 0.28
Myelencephalon6.4 ± 0.33
Occipital Lobe6.52 ± 0.27
Parietal Lobe6.37 ± 0.32
Pontine Tegmentum6.39 ± 0.3
Striatum6.25 ± 0.28
Subthalamus6.37 ± 0.24
Temporal Lobe6.37 ± 0.3
Thalamus6.54 ± 0.23
White Matter7.03 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rb1CBCerebellum27.45
38.29
Rb1CTXCerebral cortex68.2
55.82
Rb1HIPHippocampal region48.61
85.03
Rb1HPFHippocampal formation47.49
66.34
Rb1HYHypothalamus6.87
5.23
Rb1LSXLateral septal complex11.42
8.41
Rb1MBMidbrain20.26
18.52
Rb1MYMedulla11.17
10.8
Rb1OLFOlfactory bulb53.03
46.68
Rb1PPons12.86
12.85
Rb1PALPallidum6.08
4.95
Rb1RHPRetrohippocampal region44.67
39.05
Rb1sAMYStriatum-like amygdalar nuclei10.01
7.28
Rb1STRStriatum15.37
11.31
Rb1STRdStriatum dorsal region17.37
13.09
Rb1STRvStriatum ventral region13.57
9.18
Rb1THThalamus28.77
23.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00070685 18 557 574 IMESLAWLSDSPLFDLIK 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


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