AutismKB 2.0

Annotation Detail for OSBP2


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Basic Information Top
Gene Symbol:OSBP2 ( ORP-4,ORP4,OSBPL1,OSBPL4 )
Gene Full Name: oxysterol binding protein 2
Band: 22q12.2
Quick LinksEntrez ID:23762; OMIM: 606729; Uniprot ID:OSBP2_HUMAN; ENSEMBL ID: ENSG00000184792; HGNC ID: 8504
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 body0 / 707610 
blastocyst1 / 6231916
fetus37 / 56401265
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult50 / 193912125
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 tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal129 / 336030738
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor4 / 12494932
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 tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow2 / 4880140
brain35 / 110098931
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye24 / 211054113
heart2 / 8962622
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen4 / 5395274
stomach0 / 966190 
testis28 / 33044284
thymus1 / 8113112
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221237_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.95
Adipocyte8.25
AdrenalCortex8.8
Adrenalgland6.7
Amygdala8.4
Appendix8
AtrioventricularNode5.85
BDCA4+_DentriticCells8.85
Bonemarrow8.95
BronchialEpithelialCells7.15
CD105+_Endothelial8.15
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)8.5
CD33+_Myeloid6.65
CD34+9
CD4+_Tcells6.1
CD56+_NKCells9.1
CD71+_EarlyErythroid173.65
CD8+_Tcells6.15
CardiacMyocytes10.2
Caudatenucleus11
Cerebellum8.4
CerebellumPeduncles11.6
CiliaryGanglion5.4
CingulateCortex8.15
Colorectaladenocarcinoma7.95
DorsalRootGanglion6
FetalThyroid7.75
Fetalbrain9.8
Fetalliver12.65
Fetallung6.65
GlobusPallidus5.8
Heart10.1
Hypothalamus8.7
Kidney6.4
Leukemia_chronicMyelogenousK-5627.2
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)6.5
Liver10.45
Lung8.85
Lymphnode6.9
Lymphoma_burkitts(Daudi)9.6
Lymphoma_burkitts(Raji)11.2
MedullaOblongata7.4
OccipitalLobe7.75
OlfactoryBulb6.3
Ovary5.2
Pancreas6.35
PancreaticIslet8.55
ParietalLobe8.6
Pituitary10.65
Placenta8.4
Pons8.05
PrefrontalCortex9.95
Prostate9.5
Salivarygland6.25
SkeletalMuscle8.9
Skin5.95
SmoothMuscle9.15
Spinalcord8.55
SubthalamicNucleus7.15
SuperiorCervicalGanglion8.95
TemporalLobe7.3
Testis16.15
TestisGermCell6.8
TestisIntersitial7.2
TestisLeydigCell9.05
TestisSeminiferousTubule8.3
Thalamus8.05
Thymus6.45
Thyroid10.05
Tongue7.8
Tonsil7.7
Trachea6.7
TrigeminalGanglion7.8
Uterus6.6
UterusCorpus9.1
WholeBlood7.75
Wholebrain7.1
colon8
pineal_day14.28
pineal_night9.84
retina9.9
small_intestine7.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P321935
  • 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
Amygdala6.2 ± 0.51
Basal Forebrain6.63 ± 0.53
Basal Part of Pons6.77 ± 0.37
Cerebellar Cortex7.07 ± 0.42
Cerebellar Nuclei6.35 ± 0.38
Claustrum5.71 ± 0.75
Epithalamus5.76 ± 0.64
Frontal Lobe6.41 ± 0.4
Globus Pallidus6 ± 0.4
Hypothalamus5.83 ± 0.55
Insula6.33 ± 0.6
Limbic Lobe6.67 ± 0.66
Mesencephalon6.49 ± 0.58
Myelencephalon6.54 ± 0.54
Occipital Lobe7.45 ± 0.82
Parietal Lobe6.68 ± 0.43
Pontine Tegmentum6.53 ± 0.63
Striatum6.98 ± 0.57
Subthalamus6.05 ± 0.45
Temporal Lobe6.56 ± 0.43
Thalamus6.89 ± 0.43
White Matter7.33 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Osbp2CBCerebellum100
100
Osbp2CTXCerebral cortex100
100
Osbp2HIPHippocampal region100
100
Osbp2HPFHippocampal formation100
100
Osbp2HYHypothalamus69.47
58.4
Osbp2LSXLateral septal complex100
98.13
Osbp2MBMidbrain70.09
65.27
Osbp2MYMedulla70.51
82.86
Osbp2OLFOlfactory bulb100
100
Osbp2PPons64.58
74.49
Osbp2PALPallidum69.57
67.28
Osbp2RHPRetrohippocampal region100
100
Osbp2sAMYStriatum-like amygdalar nuclei79.2
65.89
Osbp2STRStriatum100
100
Osbp2STRdStriatum dorsal region100
100
Osbp2STRvStriatum ventral region100
100
Osbp2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
OSBP2_HUMAN_16 9 16 24 PQPVPEPER PRIDE
PAp00070794 16 538 553 IPMPVNFNEPLSMLQR 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