AutismKB 2.0

Annotation Detail for RBPJ


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Basic Information Top
Gene Symbol:RBPJ ( CBF1,IGKJRB,IGKJRB1,KBF2,MGC61669,RBP-J,RBPJK,RBPSUH,SUH,csl )
Gene Full Name: recombination signal binding protein for immunoglobulin kappa J region
Band: 4p15.2
Quick LinksEntrez ID:3516; OMIM: 147183; Uniprot ID:SUH_HUMAN; ENSEMBL ID: ENSG00000168214; HGNC ID: 5724
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 body5 / 7076170
blastocyst10 / 62319160
fetus34 / 56401260
neonate4 / 31097128
infant3 / 23620127
juvenile0 / 555560 
adult119 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor20 / 26384575
glioma9 / 10688384
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia8 / 9584283
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma8 / 71755111
non-neoplasia7 / 9725071
normal233 / 336030769
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer5 / 10268048
retinoblastoma6 / 46356129
skin tumor6 / 12494948
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites2 / 4001549
bladder1 / 2975733
blood11 / 12347889
bone4 / 7165555
bone marrow5 / 48801102
brain73 / 110098966
cervix8 / 48171166
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye16 / 21105475
heart5 / 8962655
intestine6 / 23447225
kidney9 / 21177742
larynx0 / 241450 
liver24 / 207743115
lung20 / 33697459
lymph7 / 44270158
lymph node3 / 9161032
mammary gland3 / 15327119
mouth5 / 6705274
muscle14 / 107715129
nerve2 / 15768126
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx12 / 41328290
pituitary gland3 / 16585180
placenta24 / 28082585
prostate12 / 18934563
salivary gland1 / 2015549
skin8 / 21057437
spleen5 / 5395292
stomach3 / 9661931
testis26 / 33044278
thymus12 / 81131147
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211974_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts530.9
Adipocyte167.4
AdrenalCortex160.9
Adrenalgland74.4
Amygdala167.8
Appendix196.6
AtrioventricularNode64.65
BDCA4+_DentriticCells457.45
Bonemarrow75.15
BronchialEpithelialCells128.55
CD105+_Endothelial186.9
CD14+_Monocytes640.35
CD19+_BCells(neg._sel.)168.4
CD33+_Myeloid786.2
CD34+400.6
CD4+_Tcells391.15
CD56+_NKCells276.95
CD71+_EarlyErythroid57.3
CD8+_Tcells364.75
CardiacMyocytes134.25
Caudatenucleus117
Cerebellum71.85
CerebellumPeduncles229.35
CiliaryGanglion97.75
CingulateCortex341.1
Colorectaladenocarcinoma85.25
DorsalRootGanglion79
FetalThyroid386.4
Fetalbrain158.85
Fetalliver85
Fetallung210
GlobusPallidus99.05
Heart66.65
Hypothalamus312.35
Kidney39.2
Leukemia_chronicMyelogenousK-56250.85
Leukemia_promyelocytic-HL-60101.95
Leukemialymphoblastic(MOLT-4)162.1
Liver79.2
Lung80.55
Lymphnode88.65
Lymphoma_burkitts(Daudi)239.85
Lymphoma_burkitts(Raji)127.95
MedullaOblongata316.5
OccipitalLobe323.45
OlfactoryBulb442.35
Ovary199.55
Pancreas269.15
PancreaticIslet484.85
ParietalLobe378.05
Pituitary264
Placenta187.9
Pons215.55
PrefrontalCortex700.3
Prostate284.35
Salivarygland181.2
SkeletalMuscle142.15
Skin162.45
SmoothMuscle186.4
Spinalcord162.8
SubthalamicNucleus187.7
SuperiorCervicalGanglion179.2
TemporalLobe122.75
Testis119.45
TestisGermCell356.15
TestisIntersitial307.25
TestisLeydigCell311.8
TestisSeminiferousTubule329.45
Thalamus266.85
Thymus169.55
Thyroid155.05
Tongue142
Tonsil256.25
Trachea170.75
TrigeminalGanglion97.9
Uterus387.05
UterusCorpus266.4
WholeBlood540.25
Wholebrain129.45
colon309.45
pineal_day455.22
pineal_night453.7
retina443.65
small_intestine210
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P54797
  • 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
Amygdala7.26 ± 0.35
Basal Forebrain7.67 ± 0.31
Basal Part of Pons7.43 ± 0.35
Cerebellar Cortex7.47 ± 0.21
Cerebellar Nuclei7.95 ± 0.4
Claustrum7.34 ± 0.34
Epithalamus7.85 ± 0.25
Frontal Lobe7.48 ± 0.37
Globus Pallidus8.31 ± 0.22
Hypothalamus7.78 ± 0.22
Insula7.37 ± 0.24
Limbic Lobe7.37 ± 0.29
Mesencephalon7.65 ± 0.34
Myelencephalon7.54 ± 0.35
Occipital Lobe7.5 ± 0.29
Parietal Lobe7.52 ± 0.31
Pontine Tegmentum7.61 ± 0.34
Striatum7.57 ± 0.4
Subthalamus7.83 ± 0.14
Temporal Lobe7.48 ± 0.28
Thalamus7.65 ± 0.3
White Matter9.17 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
RbpsuhCBCerebellum10.8
13.32
RbpsuhCTXCerebral cortex13.76
9.69
RbpsuhHIPHippocampal region3.34
2.87
RbpsuhHPFHippocampal formation3.74
3.03
RbpsuhHYHypothalamus1.09
0.94
RbpsuhLSXLateral septal complex0.81
1.37
RbpsuhMBMidbrain6.05
5.69
RbpsuhMYMedulla6.2
6.57
RbpsuhOLFOlfactory bulb13.37
9.6
RbpsuhPPons6.32
6.48
RbpsuhPALPallidum0.68
0.65
RbpsuhRHPRetrohippocampal region4.59
3.36
RbpsuhsAMYStriatum-like amygdalar nuclei0.41
0.24
RbpsuhSTRStriatum1.86
1.83
RbpsuhSTRdStriatum dorsal region2.05
2.1
RbpsuhSTRvStriatum ventral region2.11
1.7
RbpsuhTHThalamus2.19
1.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000843 10 271 280 CAFYLKDTER 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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