AutismKB 2.0

Annotation Detail for RBL2


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Basic Information Top
Gene Symbol:RBL2 ( FLJ26459,P130,Rb2 )
Gene Full Name: retinoblastoma-like 2 (p130)
Band: 16q12.2
Quick LinksEntrez ID:5934; OMIM: 180203; Uniprot ID:RBL2_HUMAN; ENSEMBL ID: ENSG00000103479; HGNC ID: 9894
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
blastocyst6 / 6231996
fetus40 / 56401270
neonate4 / 31097128
infant0 / 236200 
juvenile4 / 5555671
adult133 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor10 / 94178106
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor15 / 26384556
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia10 / 95842104
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal239 / 336030771
ovarian tumor8 / 76682104
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder6 / 29757201
blood10 / 12347880
bone7 / 7165597
bone marrow6 / 48801122
brain52 / 110098947
cervix8 / 48171166
connective tissue11 / 14925573
ear2 / 16212123
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye7 / 21105433
heart6 / 8962666
intestine9 / 23447238
kidney8 / 21177737
larynx1 / 2414541
liver8 / 20774338
lung33 / 33697497
lymph0 / 442700 
lymph node23 / 91610251
mammary gland17 / 153271110
mouth7 / 67052104
muscle10 / 10771592
nerve1 / 1576863
ovary8 / 10205178
pancreas16 / 21481274
parathyroid2 / 2053997
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta4 / 28082514
prostate9 / 18934547
salivary gland1 / 2015549
skin14 / 21057466
spleen2 / 5395237
stomach3 / 9661931
testis46 / 330442139
thymus14 / 81131172
thyroid1 / 4747321
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus19 / 23287881
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212332_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.2
Adipocyte4.15
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.35
Appendix11.1
AtrioventricularNode3.15
BDCA4+_DentriticCells86.95
Bonemarrow4.2
BronchialEpithelialCells4.2
CD105+_Endothelial4.35
CD14+_Monocytes24.55
CD19+_BCells(neg._sel.)61.05
CD33+_Myeloid32.55
CD34+28.05
CD4+_Tcells393
CD56+_NKCells360.65
CD71+_EarlyErythroid6.25
CD8+_Tcells491.8
CardiacMyocytes5.25
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.75
CiliaryGanglion2.95
CingulateCortex4.25
Colorectaladenocarcinoma4.25
DorsalRootGanglion3.15
FetalThyroid4.5
Fetalbrain4.25
Fetalliver3.65
Fetallung6.15
GlobusPallidus3.05
Heart5.35
Hypothalamus4.55
Kidney3.4
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.75
Liver5.55
Lung5.15
Lymphnode10.95
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.9
MedullaOblongata3.85
OccipitalLobe3.75
OlfactoryBulb3.35
Ovary2.85
Pancreas3.35
PancreaticIslet4.55
ParietalLobe4.4
Pituitary8.55
Placenta4.6
Pons3.95
PrefrontalCortex5.2
Prostate16.4
Salivarygland3.35
SkeletalMuscle4.85
Skin3.2
SmoothMuscle4.8
Spinalcord4.5
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.75
TemporalLobe3.85
Testis11.3
TestisGermCell10.95
TestisIntersitial18.95
TestisLeydigCell6.55
TestisSeminiferousTubule4.7
Thalamus4.25
Thymus35
Thyroid5.8
Tongue4.1
Tonsil4.35
Trachea4.1
TrigeminalGanglion4.15
Uterus3.6
UterusCorpus3.75
WholeBlood36.15
Wholebrain3.45
colon4.55
pineal_day5.36
pineal_night6.16
retina5.05
small_intestine4.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P26413
  • 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
Amygdala6.75 ± 0.49
Basal Forebrain6.82 ± 0.15
Basal Part of Pons6.3 ± 0.31
Cerebellar Cortex6.51 ± 0.29
Cerebellar Nuclei6.86 ± 0.27
Claustrum6.85 ± 0.25
Epithalamus7.03 ± 0.23
Frontal Lobe6.42 ± 0.32
Globus Pallidus7.3 ± 0.28
Hypothalamus6.52 ± 0.31
Insula6.5 ± 0.31
Limbic Lobe6.64 ± 0.41
Mesencephalon6.77 ± 0.28
Myelencephalon6.67 ± 0.41
Occipital Lobe7.02 ± 0.4
Parietal Lobe6.63 ± 0.38
Pontine Tegmentum6.68 ± 0.32
Striatum7.07 ± 0.45
Subthalamus6.35 ± 0.32
Temporal Lobe6.53 ± 0.33
Thalamus6.63 ± 0.29
White Matter7.91 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbl2CBCerebellum38.93
58.74
Rbl2CTXCerebral cortex25.51
19.63
Rbl2HIPHippocampal region33.02
50.2
Rbl2HPFHippocampal formation24.95
32.92
Rbl2HYHypothalamus6.81
5.38
Rbl2LSXLateral septal complex12.97
8.9
Rbl2MBMidbrain16.46
15.68
Rbl2MYMedulla20.38
22.49
Rbl2OLFOlfactory bulb27.58
23.65
Rbl2PPons13.05
13.67
Rbl2PALPallidum5.23
4.64
Rbl2RHPRetrohippocampal region11.78
9.85
Rbl2sAMYStriatum-like amygdalar nuclei7.84
6.92
Rbl2STRStriatum9.45
7.26
Rbl2STRdStriatum dorsal region8.91
7.12
Rbl2STRvStriatum ventral region10.43
7.12
Rbl2THThalamus10.48
9.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RBL2_HUMAN_454 9 454 462 DPTQAIANR 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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