AutismKB 2.0

Annotation Detail for RBBP6


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Basic Information Top
Gene Symbol:RBBP6 ( DKFZp686P0638,DKFZp761B2423,MY038,P2P-R,PACT,RBQ-1,SNAMA )
Gene Full Name: retinoblastoma binding protein 6
Band: 16p12.1
Quick LinksEntrez ID:5930; OMIM: 600938; Uniprot ID:RBBP6_HUMAN; ENSEMBL ID: ENSG00000122257; HGNC ID: 9889
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 body8 / 70761113
blastocyst12 / 62319192
fetus61 / 564012108
neonate2 / 3109764
infant1 / 2362042
juvenile5 / 5555689
adult229 / 1939121118
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma9 / 82823108
colorectal tumor10 / 11424687
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor45 / 263845170
glioma9 / 10688384
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia12 / 95842125
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal310 / 336030792
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer21 / 102680204
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder2 / 2975767
blood6 / 12347848
bone9 / 71655125
bone marrow3 / 4880161
brain43 / 110098939
cervix5 / 48171103
connective tissue11 / 14925573
ear2 / 16212123
embryonic tissue30 / 215722139
esophagus1 / 2020949
eye15 / 21105471
heart6 / 8962666
intestine17 / 23447272
kidney26 / 211777122
larynx3 / 24145124
liver13 / 20774362
lung30 / 33697489
lymph0 / 442700 
lymph node15 / 91610163
mammary gland11 / 15327171
mouth3 / 6705244
muscle8 / 10771574
nerve0 / 157680 
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta62 / 280825220
prostate29 / 189345153
salivary gland0 / 201550 
skin6 / 21057428
spleen4 / 5395274
stomach10 / 96619103
testis37 / 330442111
thymus6 / 8113173
thyroid6 / 47473126
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus20 / 23287885
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212781_at
Cell line Expression level Expression bar
721_B_lymphoblasts43.4
Adipocyte9.5
AdrenalCortex12.9
Adrenalgland9.5
Amygdala17.9
Appendix13.8
AtrioventricularNode13.45
BDCA4+_DentriticCells34.2
Bonemarrow11.9
BronchialEpithelialCells10.65
CD105+_Endothelial78.2
CD14+_Monocytes23.45
CD19+_BCells(neg._sel.)62.85
CD33+_Myeloid36.1
CD34+121.95
CD4+_Tcells35
CD56+_NKCells52.15
CD71+_EarlyErythroid39.45
CD8+_Tcells26.9
CardiacMyocytes25.1
Caudatenucleus9.55
Cerebellum8.75
CerebellumPeduncles14.2
CiliaryGanglion10.3
CingulateCortex12.2
Colorectaladenocarcinoma15.8
DorsalRootGanglion10.4
FetalThyroid11.85
Fetalbrain11.45
Fetalliver9.5
Fetallung9.2
GlobusPallidus10.4
Heart17
Hypothalamus10.95
Kidney8.85
Leukemia_chronicMyelogenousK-56212.75
Leukemia_promyelocytic-HL-6014.6
Leukemialymphoblastic(MOLT-4)14.05
Liver16.75
Lung10.05
Lymphnode14.05
Lymphoma_burkitts(Daudi)17.35
Lymphoma_burkitts(Raji)58.4
MedullaOblongata12.45
OccipitalLobe9.15
OlfactoryBulb7.7
Ovary8.8
Pancreas10.5
PancreaticIslet14.05
ParietalLobe12.75
Pituitary12.75
Placenta8.95
Pons11.6
PrefrontalCortex11.75
Prostate11.3
Salivarygland8.9
SkeletalMuscle14.25
Skin9.95
SmoothMuscle12.3
Spinalcord11.35
SubthalamicNucleus11.8
SuperiorCervicalGanglion15.55
TemporalLobe10.25
Testis8.35
TestisGermCell12.9
TestisIntersitial10.4
TestisLeydigCell14.2
TestisSeminiferousTubule12.35
Thalamus11.6
Thymus6.3
Thyroid19.25
Tongue15.5
Tonsil11.25
Trachea7.1
TrigeminalGanglion19.1
Uterus17.5
UterusCorpus10.3
WholeBlood12.4
Wholebrain6.9
colon8.15
pineal_day31.08
pineal_night15.8
retina11.65
small_intestine8.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9800_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
Amygdala5.94 ± 0.32
Basal Forebrain5.97 ± 0.31
Basal Part of Pons6.09 ± 0.28
Cerebellar Cortex6.42 ± 0.27
Cerebellar Nuclei6.12 ± 0.27
Claustrum5.64 ± 0.46
Epithalamus6.35 ± 0.59
Frontal Lobe5.99 ± 0.37
Globus Pallidus5.72 ± 0.24
Hypothalamus6.2 ± 0.35
Insula6.03 ± 0.45
Limbic Lobe5.85 ± 0.38
Mesencephalon6.01 ± 0.38
Myelencephalon5.97 ± 0.41
Occipital Lobe6.02 ± 0.32
Parietal Lobe6.01 ± 0.37
Pontine Tegmentum5.96 ± 0.43
Striatum5.83 ± 0.3
Subthalamus6.1 ± 0.16
Temporal Lobe6.07 ± 0.34
Thalamus6.03 ± 0.44
White Matter6.33 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbbp6CBCerebellum1.92
1.9
Rbbp6CTXCerebral cortex0.39
0.34
Rbbp6HIPHippocampal region12.98
5.52
Rbbp6HPFHippocampal formation9.57
3.82
Rbbp6HYHypothalamus0.53
0.28
Rbbp6LSXLateral septal complex0.48
0.27
Rbbp6MBMidbrain0.51
0.34
Rbbp6MYMedulla1.02
1.16
Rbbp6OLFOlfactory bulb1.04
0.67
Rbbp6PPons1
0.8
Rbbp6PALPallidum0.3
0.18
Rbbp6RHPRetrohippocampal region1.71
0.75
Rbbp6sAMYStriatum-like amygdalar nuclei0.32
0.19
Rbbp6STRStriatum0.28
0.21
Rbbp6STRdStriatum dorsal region0.23
0.22
Rbbp6STRvStriatum ventral region0.38
0.18
Rbbp6THThalamus0.46
0.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004516 14 150 163 KPLGPPPPSYTCFR 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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