AutismKB 2.0

Annotation Detail for RHOBTB2


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Basic Information Top
Gene Symbol:RHOBTB2 ( DBC2,KIAA0717 )
Gene Full Name: Rho-related BTB domain containing 2
Band: 8p21.3
Quick LinksEntrez ID:23221; OMIM: 607352; Uniprot ID:RHBT2_HUMAN; ENSEMBL ID: ENSG00000008853; HGNC ID: 18756
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
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult48 / 193912124
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor15 / 26384556
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma9 / 71755125
non-neoplasia2 / 9725020
normal151 / 336030744
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder5 / 29757168
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain67 / 110098960
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye14 / 21105466
heart1 / 8962611
intestine3 / 23447212
kidney8 / 21177737
larynx0 / 241450 
liver0 / 2077430 
lung20 / 33697459
lymph8 / 44270180
lymph node12 / 91610130
mammary gland1 / 1532716
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate8 / 18934542
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach2 / 9661920
testis7 / 33044221
thymus1 / 8113112
thyroid4 / 4747384
tonsil2 / 16999117
trachea5 / 5241395
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209441_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.4
Adipocyte5.8
AdrenalCortex6.25
Adrenalgland5.05
Amygdala7.45
Appendix6.1
AtrioventricularNode5.65
BDCA4+_DentriticCells6.45
Bonemarrow6.5
BronchialEpithelialCells5.85
CD105+_Endothelial5.9
CD14+_Monocytes6.5
CD19+_BCells(neg._sel.)9.35
CD33+_Myeloid7.75
CD34+7.4
CD4+_Tcells6.2
CD56+_NKCells7.45
CD71+_EarlyErythroid5.6
CD8+_Tcells5.25
CardiacMyocytes7.65
Caudatenucleus14.1
Cerebellum5
CerebellumPeduncles7.25
CiliaryGanglion4.35
CingulateCortex12
Colorectaladenocarcinoma6.15
DorsalRootGanglion5.45
FetalThyroid5.95
Fetalbrain7.25
Fetalliver5.15
Fetallung8
GlobusPallidus10.05
Heart8.25
Hypothalamus7.6
Kidney5
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.9
Liver8
Lung30.6
Lymphnode5.35
Lymphoma_burkitts(Daudi)12.95
Lymphoma_burkitts(Raji)9.15
MedullaOblongata7.35
OccipitalLobe7.3
OlfactoryBulb4.85
Ovary4.05
Pancreas4.95
PancreaticIslet7.4
ParietalLobe9.3
Pituitary7.25
Placenta6.1
Pons6.7
PrefrontalCortex13.95
Prostate6.9
Salivarygland4.9
SkeletalMuscle6.95
Skin5.05
SmoothMuscle6.9
Spinalcord6.5
SubthalamicNucleus10.4
SuperiorCervicalGanglion7.05
TemporalLobe7.7
Testis5.3
TestisGermCell5.05
TestisIntersitial5
TestisLeydigCell6.05
TestisSeminiferousTubule5.6
Thalamus6.3
Thymus4.6
Thyroid7.8
Tongue5.9
Tonsil5.95
Trachea5.15
TrigeminalGanglion5.95
Uterus4.95
UterusCorpus5.45
WholeBlood5.25
Wholebrain11.55
colon5.8
pineal_day12.16
pineal_night10.5
retina7.525
small_intestine5.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16616_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
Amygdala8.41 ± 0.57
Basal Forebrain8.64 ± 0.68
Basal Part of Pons9.91 ± 0.42
Cerebellar Cortex8.34 ± 0.56
Cerebellar Nuclei10.67 ± 0.72
Claustrum8.59 ± 0.62
Epithalamus7.31 ± 0.77
Frontal Lobe9.21 ± 1.03
Globus Pallidus10.5 ± 0.73
Hypothalamus8.52 ± 0.61
Insula8.17 ± 0.64
Limbic Lobe8.73 ± 0.59
Mesencephalon9.07 ± 0.93
Myelencephalon9.04 ± 0.9
Occipital Lobe9.53 ± 0.52
Parietal Lobe9.43 ± 0.67
Pontine Tegmentum9.07 ± 1.08
Striatum8.8 ± 0.64
Subthalamus9.69 ± 0.17
Temporal Lobe8.6 ± 0.63
Thalamus9.58 ± 0.79
White Matter6.38 ± 0.94
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rhobtb2CBCerebellum0
0
Rhobtb2CTXCerebral cortex0
0
Rhobtb2HIPHippocampal region0
0
Rhobtb2HPFHippocampal formation0
0
Rhobtb2HYHypothalamus0
0
Rhobtb2LSXLateral septal complex0
0
Rhobtb2MBMidbrain0
0
Rhobtb2MYMedulla0
0
Rhobtb2OLFOlfactory bulb0
0
Rhobtb2PPons0
0
Rhobtb2PALPallidum0
0
Rhobtb2RHPRetrohippocampal region0
0
Rhobtb2sAMYStriatum-like amygdalar nuclei0
0
Rhobtb2STRStriatum0
0
Rhobtb2STRdStriatum dorsal region0
0
Rhobtb2STRvStriatum ventral region0
0
Rhobtb2THThalamus0
0
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