AutismKB 2.0

Annotation Detail for RCBTB2


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Basic Information Top
Gene Symbol:RCBTB2 ( CHC1L )
Gene Full Name: regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
Band: 13q14.2
Quick LinksEntrez ID:1102; OMIM: 603524; Uniprot ID:RCBT2_HUMAN; ENSEMBL ID: ENSG00000136161; HGNC ID: 1914
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
blastocyst3 / 6231948
fetus48 / 56401285
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult58 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor20 / 26384575
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia8 / 9584283
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal169 / 336030750
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow2 / 4880140
brain85 / 110098977
cervix1 / 4817120
connective tissue6 / 14925540
ear3 / 16212185
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye10 / 21105447
heart6 / 8962666
intestine4 / 23447217
kidney10 / 21177747
larynx0 / 241450 
liver6 / 20774328
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta9 / 28082532
prostate2 / 18934510
salivary gland1 / 2015549
skin2 / 2105749
spleen9 / 53952166
stomach2 / 9661920
testis21 / 33044263
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus11 / 23287847
vascular3 / 5178057
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204759_at
Cell line Expression level Expression bar
721_B_lymphoblasts46.85
Adipocyte7.6
AdrenalCortex8.65
Adrenalgland6.85
Amygdala8.95
Appendix9.25
AtrioventricularNode7.35
BDCA4+_DentriticCells18.35
Bonemarrow7.75
BronchialEpithelialCells7.3
CD105+_Endothelial8.2
CD14+_Monocytes393.3
CD19+_BCells(neg._sel.)8.1
CD33+_Myeloid130.55
CD34+10.3
CD4+_Tcells24.7
CD56+_NKCells160.8
CD71+_EarlyErythroid7.55
CD8+_Tcells20.2
CardiacMyocytes10.55
Caudatenucleus7.05
Cerebellum6.2
CerebellumPeduncles9
CiliaryGanglion7.3
CingulateCortex7.85
Colorectaladenocarcinoma7.45
DorsalRootGanglion6.75
FetalThyroid8.55
Fetalbrain27.9
Fetalliver6.9
Fetallung8.4
GlobusPallidus5.7
Heart10.3
Hypothalamus26.15
Kidney6.5
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)552.85
Liver10.7
Lung8.5
Lymphnode35.1
Lymphoma_burkitts(Daudi)10.15
Lymphoma_burkitts(Raji)10.85
MedullaOblongata6.45
OccipitalLobe7.15
OlfactoryBulb8.85
Ovary5.35
Pancreas6.25
PancreaticIslet7.95
ParietalLobe8.15
Pituitary14.9
Placenta8.35
Pons6.9
PrefrontalCortex10.45
Prostate12.9
Salivarygland11.2
SkeletalMuscle9.25
Skin6.15
SmoothMuscle8.75
Spinalcord11.85
SubthalamicNucleus7.25
SuperiorCervicalGanglion11.25
TemporalLobe6.6
Testis6.65
TestisGermCell6.3
TestisIntersitial6.6
TestisLeydigCell8
TestisSeminiferousTubule6.7
Thalamus8.35
Thymus7.5
Thyroid39.9
Tongue8.05
Tonsil8.45
Trachea14.2
TrigeminalGanglion8.05
Uterus11.05
UterusCorpus7.15
WholeBlood351.45
Wholebrain6.8
colon8.05
pineal_day10.36
pineal_night11.24
retina22.625
small_intestine8.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1357_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
Amygdala4.96 ± 0.56
Basal Forebrain5.52 ± 0.26
Basal Part of Pons5.39 ± 0.83
Cerebellar Cortex5.1 ± 0.31
Cerebellar Nuclei5.41 ± 0.37
Claustrum5.04 ± 0.7
Epithalamus6.05 ± 0.61
Frontal Lobe5.26 ± 0.49
Globus Pallidus6.3 ± 0.27
Hypothalamus5.59 ± 0.63
Insula5.41 ± 0.29
Limbic Lobe5.29 ± 0.41
Mesencephalon5.35 ± 0.42
Myelencephalon5.35 ± 0.47
Occipital Lobe5.3 ± 0.32
Parietal Lobe5.21 ± 0.34
Pontine Tegmentum5.28 ± 0.45
Striatum5.42 ± 0.4
Subthalamus5.37 ± 0.17
Temporal Lobe5.37 ± 0.41
Thalamus5.29 ± 0.38
White Matter6.48 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rcbtb2CBCerebellum2.42
2.62
Rcbtb2CTXCerebral cortex0.52
0.63
Rcbtb2HIPHippocampal region2.98
2.45
Rcbtb2HPFHippocampal formation2.15
1.78
Rcbtb2HYHypothalamus1.34
1.21
Rcbtb2LSXLateral septal complex0.14
0.12
Rcbtb2MBMidbrain0.43
0.64
Rcbtb2MYMedulla2.64
4
Rcbtb2OLFOlfactory bulb2.43
2.13
Rcbtb2PPons2.84
4.1
Rcbtb2PALPallidum0.73
0.66
Rcbtb2RHPRetrohippocampal region0.46
0.63
Rcbtb2sAMYStriatum-like amygdalar nuclei0.67
0.69
Rcbtb2STRStriatum0.66
0.6
Rcbtb2STRdStriatum dorsal region0.55
0.45
Rcbtb2STRvStriatum ventral region1.07
0.93
Rcbtb2THThalamus0.53
0.48
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


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