AutismKB 2.0

Annotation Detail for RBL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RBL1 ( CP107,MGC40006,PRB1,p107 )
Gene Full Name: retinoblastoma-like 1 (p107)
Band: 20q11.23
Quick LinksEntrez ID:5933; OMIM: 116957; Uniprot ID:RBL1_HUMAN; ENSEMBL ID: ENSG00000080839; HGNC ID: 9893
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 body1 / 7076114
blastocyst2 / 6231932
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult22 / 193912111
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal33 / 33603079
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver4 / 20774319
lung1 / 3369742
lymph1 / 4427022
lymph node2 / 9161021
mammary gland3 / 15327119
mouth5 / 6705274
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland1 / 2015549
skin8 / 21057437
spleen1 / 5395218
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205296_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.55
Adipocyte8.1
AdrenalCortex13.1
Adrenalgland8.15
Amygdala8
Appendix13.9
AtrioventricularNode12.75
BDCA4+_DentriticCells8.05
Bonemarrow11.1
BronchialEpithelialCells7.85
CD105+_Endothelial11.85
CD14+_Monocytes9.25
CD19+_BCells(neg._sel.)8.4
CD33+_Myeloid10.45
CD34+10.15
CD4+_Tcells7.9
CD56+_NKCells10.1
CD71+_EarlyErythroid8.65
CD8+_Tcells9.1
CardiacMyocytes20.3
Caudatenucleus7.5
Cerebellum7.05
CerebellumPeduncles11.3
CiliaryGanglion10.55
CingulateCortex9.6
Colorectaladenocarcinoma11.05
DorsalRootGanglion10.15
FetalThyroid9.5
Fetalbrain7.7
Fetalliver8.2
Fetallung5.65
GlobusPallidus8.05
Heart18.65
Hypothalamus8.2
Kidney8.55
Leukemia_chronicMyelogenousK-5627.5
Leukemia_promyelocytic-HL-607.6
Leukemialymphoblastic(MOLT-4)10.65
Liver15
Lung8.95
Lymphnode6.7
Lymphoma_burkitts(Daudi)12.1
Lymphoma_burkitts(Raji)14.65
MedullaOblongata7.1
OccipitalLobe7.6
OlfactoryBulb6.4
Ovary7.7
Pancreas7.75
PancreaticIslet9.3
ParietalLobe10.65
Pituitary9.95
Placenta7.9
Pons9.05
PrefrontalCortex9.75
Prostate9.55
Salivarygland7.75
SkeletalMuscle16.1
Skin10.6
SmoothMuscle9.7
Spinalcord8.5
SubthalamicNucleus9.5
SuperiorCervicalGanglion19.85
TemporalLobe9
Testis7
TestisGermCell6.5
TestisIntersitial9.3
TestisLeydigCell9.6
TestisSeminiferousTubule7.4
Thalamus9.5
Thymus6
Thyroid9.65
Tongue12.25
Tonsil9.8
Trachea6.85
TrigeminalGanglion15.95
Uterus6.3
UterusCorpus10.95
WholeBlood8.65
Wholebrain6.45
colon8.45
pineal_day10.08
pineal_night9.66
retina10.05
small_intestine7.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12220_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
Amygdala2.09 ± 0.99
Basal Forebrain1.62 ± 0.26
Basal Part of Pons1.41 ± 0.58
Cerebellar Cortex2.25 ± 0.39
Cerebellar Nuclei1.99 ± 1
Claustrum2.29 ± 0.67
Epithalamus1.59 ± 0.62
Frontal Lobe1.49 ± 0.66
Globus Pallidus1.9 ± 0.63
Hypothalamus1.79 ± 0.68
Insula1.8 ± 1.11
Limbic Lobe1.55 ± 0.63
Mesencephalon1.79 ± 0.71
Myelencephalon1.68 ± 0.67
Occipital Lobe2.01 ± 0.86
Parietal Lobe1.58 ± 0.68
Pontine Tegmentum1.77 ± 0.71
Striatum1.49 ± 0.68
Subthalamus1.79 ± 0.71
Temporal Lobe1.49 ± 0.65
Thalamus1.6 ± 0.6
White Matter2 ± 0.73
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbl1CBCerebellum0.49
0.58
Rbl1CTXCerebral cortex0.26
0.26
Rbl1HIPHippocampal region0.88
1.71
Rbl1HPFHippocampal formation0.65
0.99
Rbl1HYHypothalamus0.45
0.99
Rbl1LSXLateral septal complex0.09
0.08
Rbl1MBMidbrain0.28
0.27
Rbl1MYMedulla0.29
0.23
Rbl1OLFOlfactory bulb0.33
0.58
Rbl1PPons0.22
0.48
Rbl1PALPallidum0.11
0.1
Rbl1RHPRetrohippocampal region0.35
0.22
Rbl1sAMYStriatum-like amygdalar nuclei0.25
0.09
Rbl1STRStriatum0.13
0.12
Rbl1STRdStriatum dorsal region0.11
0.11
Rbl1STRvStriatum ventral region0.14
0.18
Rbl1THThalamus0.51
0.59
Peptide Top

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