AutismKB 2.0

Annotation Detail for RRBP1


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Basic Information Top
Gene Symbol:RRBP1 ( DKFZp586A1420,ES/130,ES130,FLJ36146,MGC157720,MGC157721,hES )
Gene Full Name: ribosome binding protein 1 homolog 180kDa (dog)
Band: 20p12.1
Quick LinksEntrez ID:6238; OMIM: 601418; Uniprot ID:RRBP1_HUMAN; ENSEMBL ID: ENSG00000125844; HGNC ID: 10448
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 body16 / 70761226
blastocyst11 / 62319176
fetus78 / 564012138
neonate0 / 310970 
infant4 / 23620169
juvenile3 / 5555653
adult301 / 1939121155
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) tumor14 / 94178148
cervical tumor2 / 3436658
chondrosarcoma14 / 82823169
colorectal tumor24 / 114246210
esophageal tumor6 / 17290347
gastrointestinal tumor15 / 119369125
germ cell tumor25 / 26384594
glioma12 / 106883112
head and neck tumor25 / 136302183
kidney tumor6 / 6895987
leukemia29 / 95842302
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal427 / 3360307127
ovarian tumor15 / 76682195
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor19 / 124949152
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites6 / 40015149
bladder0 / 297570 
blood8 / 12347864
bone14 / 71655195
bone marrow0 / 488010 
brain49 / 110098944
cervix5 / 48171103
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue30 / 215722139
esophagus6 / 20209296
eye32 / 211054151
heart22 / 89626245
intestine55 / 234472234
kidney24 / 211777113
larynx2 / 2414582
liver29 / 207743139
lung45 / 336974133
lymph0 / 442700 
lymph node16 / 91610174
mammary gland29 / 153271189
mouth12 / 67052178
muscle3 / 10771527
nerve3 / 15768190
ovary22 / 102051215
pancreas61 / 214812283
parathyroid6 / 20539292
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta68 / 280825242
prostate18 / 18934595
salivary gland0 / 201550 
skin27 / 210574128
spleen4 / 5395274
stomach10 / 96619103
testis21 / 33044263
thymus2 / 8113124
thyroid11 / 47473231
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus25 / 232878107
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201206_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.35
Adipocyte40.25
AdrenalCortex50.1
Adrenalgland25.25
Amygdala18.4
Appendix15.6
AtrioventricularNode14.75
BDCA4+_DentriticCells221.05
Bonemarrow21.8
BronchialEpithelialCells34.2
CD105+_Endothelial10.45
CD14+_Monocytes23.35
CD19+_BCells(neg._sel.)11.95
CD33+_Myeloid36.35
CD34+33.1
CD4+_Tcells17.65
CD56+_NKCells67.35
CD71+_EarlyErythroid13.75
CD8+_Tcells9
CardiacMyocytes56.85
Caudatenucleus19.25
Cerebellum17.65
CerebellumPeduncles25.5
CiliaryGanglion10.2
CingulateCortex19.55
Colorectaladenocarcinoma27
DorsalRootGanglion15.3
FetalThyroid98.65
Fetalbrain15.6
Fetalliver38.8
Fetallung26.4
GlobusPallidus12.45
Heart14.9
Hypothalamus21.7
Kidney27.85
Leukemia_chronicMyelogenousK-56217.05
Leukemia_promyelocytic-HL-6017.8
Leukemialymphoblastic(MOLT-4)11.8
Liver35.45
Lung108.5
Lymphnode18.2
Lymphoma_burkitts(Daudi)42
Lymphoma_burkitts(Raji)120.05
MedullaOblongata18.05
OccipitalLobe17.55
OlfactoryBulb23.2
Ovary13.9
Pancreas258.25
PancreaticIslet90.3
ParietalLobe19
Pituitary38.65
Placenta240.4
Pons21.75
PrefrontalCortex22.45
Prostate55.85
Salivarygland18.45
SkeletalMuscle25.25
Skin13.3
SmoothMuscle254.25
Spinalcord43
SubthalamicNucleus19.25
SuperiorCervicalGanglion18.85
TemporalLobe18.95
Testis24.65
TestisGermCell18.05
TestisIntersitial18.5
TestisLeydigCell22.75
TestisSeminiferousTubule35.1
Thalamus16.4
Thymus16.5
Thyroid452.15
Tongue22.4
Tonsil26.3
Trachea73.05
TrigeminalGanglion17.25
Uterus35.5
UterusCorpus21.05
WholeBlood21.6
Wholebrain13.85
colon42.45
pineal_day18.56
pineal_night14.3
retina27.175
small_intestine26.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P28309
  • 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
Amygdala2.31 ± 0.96
Basal Forebrain1.87 ± 0.42
Basal Part of Pons1.64 ± 0.33
Cerebellar Cortex2.1 ± 0.61
Cerebellar Nuclei2.22 ± 0.67
Claustrum2.61 ± 0.72
Epithalamus2.05 ± 0.59
Frontal Lobe1.84 ± 0.71
Globus Pallidus2.51 ± 0.9
Hypothalamus1.81 ± 0.7
Insula1.45 ± 0.51
Limbic Lobe1.88 ± 0.73
Mesencephalon2.02 ± 0.7
Myelencephalon2 ± 0.7
Occipital Lobe2.12 ± 0.74
Parietal Lobe1.96 ± 0.69
Pontine Tegmentum2.08 ± 0.71
Striatum2.16 ± 0.85
Subthalamus2.02 ± 0.66
Temporal Lobe1.75 ± 0.65
Thalamus1.95 ± 0.71
White Matter3.6 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rrbp1CBCerebellum0.25
0.46
Rrbp1CTXCerebral cortex0.21
0.33
Rrbp1HIPHippocampal region0.15
0.33
Rrbp1HPFHippocampal formation0.14
0.25
Rrbp1HYHypothalamus0.83
0.87
Rrbp1LSXLateral septal complex0.09
0.05
Rrbp1MBMidbrain0.28
0.53
Rrbp1MYMedulla1.83
2.68
Rrbp1OLFOlfactory bulb0.26
0.51
Rrbp1PPons0.28
0.5
Rrbp1PALPallidum0.11
0.18
Rrbp1RHPRetrohippocampal region0.11
0.12
Rrbp1sAMYStriatum-like amygdalar nuclei0.48
0.69
Rrbp1STRStriatum0.27
0.33
Rrbp1STRdStriatum dorsal region0.24
0.21
Rrbp1STRvStriatum ventral region0.33
0.63
Rrbp1THThalamus0.34
0.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000583 13 594 606 AMEALATAEQACK Peptide Atlas
RRBP1_HUMAN_0 0 0 0 LLATEQEDAAVAK PRIDE
RRBP1_HUMAN_1133 11 1133 1143 SILAETEGMLR PRIDE
RRBP1_HUMAN_176 13 176 188 EVPMVVVPPVGAK PRIDE
RRBP1_HUMAN_211 10 211 220 KAEGAPNQGR PRIDE
RRBP1_HUMAN_652 18 652 669 TLVSTVGSMVFNEGEAQR PRIDE
RRBP1_HUMAN_701 24 701 724 QLEEKEKLLATEQEDAAVAKSKLR PRIDE
RRBP1_HUMAN_707 13 707 719 LLATEQEDAAVAK PRIDE
RRBP1_HUMAN_807 13 807 819 DALNQATSQVESK PRIDE
RRBP1_HUMAN_865 10 865 874 QVLQLQASHR PRIDE
RRBP1_HUMAN_908 14 908 921 AQEQQQQMAELHSK PRIDE
RRBP1_HUMAN_959 12 959 970 SIEALLEAGQAR PRIDE
RRBP1_HUMAN_970 18 970 987 DAQDVQASQAEADQQQTR PRIDE
RRBP1_HUMAN_971 18 971 988 DAQDVQASQAEADQQQTR 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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