AutismKB 2.0

Annotation Detail for OCRL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OCRL ( INPP5F,LOCR,NPHL2,OCRL1 )
Gene Full Name: oculocerebrorenal syndrome of Lowe
Band: Xq26.1
Quick LinksEntrez ID:4952; OMIM: 300535; Uniprot ID:OCRL_HUMAN; ENSEMBL ID: ENSG00000122126; HGNC ID: 8108
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 body2 / 7076128
blastocyst5 / 6231980
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult117 / 193912160
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor6 / 34366174
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor6 / 6895987
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal145 / 336030743
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer12 / 102680116
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
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
ascites5 / 40015124
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain41 / 110098937
cervix6 / 48171124
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine11 / 23447246
kidney8 / 21177737
larynx2 / 2414582
liver3 / 20774314
lung20 / 33697459
lymph0 / 442700 
lymph node2 / 9161021
mammary gland10 / 15327165
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta5 / 28082517
prostate17 / 18934589
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis26 / 33044278
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus32 / 232878137
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203446_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.85
Adipocyte5.45
AdrenalCortex6.3
Adrenalgland6.2
Amygdala8.3
Appendix5.45
AtrioventricularNode4
BDCA4+_DentriticCells5.7
Bonemarrow5.35
BronchialEpithelialCells5.5
CD105+_Endothelial5.2
CD14+_Monocytes5.45
CD19+_BCells(neg._sel.)4.85
CD33+_Myeloid7.05
CD34+7.2
CD4+_Tcells4.65
CD56+_NKCells5.1
CD71+_EarlyErythroid4.8
CD8+_Tcells4.2
CardiacMyocytes6.85
Caudatenucleus4.95
Cerebellum6.9
CerebellumPeduncles6.2
CiliaryGanglion3.7
CingulateCortex5.65
Colorectaladenocarcinoma6.7
DorsalRootGanglion4.1
FetalThyroid5.35
Fetalbrain6.1
Fetalliver5.1
Fetallung5
GlobusPallidus3.9
Heart6.2
Hypothalamus10.1
Kidney4.35
Leukemia_chronicMyelogenousK-5624.65
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)4.4
Liver7.1
Lung5.95
Lymphnode4.75
Lymphoma_burkitts(Daudi)6.95
Lymphoma_burkitts(Raji)7.1
MedullaOblongata8.75
OccipitalLobe5
OlfactoryBulb4.35
Ovary3.6
Pancreas4.4
PancreaticIslet5.9
ParietalLobe5.7
Pituitary30.3
Placenta9.85
Pons5.2
PrefrontalCortex10.9
Prostate6.55
Salivarygland4.35
SkeletalMuscle6.15
Skin4.55
SmoothMuscle8.4
Spinalcord5.3
SubthalamicNucleus5.1
SuperiorCervicalGanglion6.15
TemporalLobe5
Testis10.35
TestisGermCell24.9
TestisIntersitial5.5
TestisLeydigCell7.5
TestisSeminiferousTubule6.3
Thalamus6.95
Thymus4.3
Thyroid13.45
Tongue5.1
Tonsil4.95
Trachea4.55
TrigeminalGanglion6.05
Uterus5.7
UterusCorpus4.85
WholeBlood6.05
Wholebrain9.55
colon5.55
pineal_day13.16
pineal_night14.18
retina11.275
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P170246
  • 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
Amygdala3.12 ± 0.98
Basal Forebrain2.56 ± 0.31
Basal Part of Pons2.44 ± 0.46
Cerebellar Cortex2.6 ± 0.83
Cerebellar Nuclei2.84 ± 0.69
Claustrum3.39 ± 0.79
Epithalamus2.43 ± 0.7
Frontal Lobe2.62 ± 0.7
Globus Pallidus2.89 ± 0.33
Hypothalamus2.83 ± 0.48
Insula2.28 ± 0.48
Limbic Lobe2.76 ± 0.64
Mesencephalon2.92 ± 0.76
Myelencephalon2.73 ± 0.63
Occipital Lobe2.84 ± 0.54
Parietal Lobe2.72 ± 0.71
Pontine Tegmentum2.7 ± 0.6
Striatum2.71 ± 0.56
Subthalamus2.89 ± 0.86
Temporal Lobe2.71 ± 0.7
Thalamus2.77 ± 0.66
White Matter2.88 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
OcrlCBCerebellum4
4.56
OcrlCTXCerebral cortex13.88
9.08
OcrlHIPHippocampal region8.42
7.24
OcrlHPFHippocampal formation12.8
9.9
OcrlHYHypothalamus4.44
2.9
OcrlLSXLateral septal complex3.3
2.45
OcrlMBMidbrain3.1
2.76
OcrlMYMedulla7.28
6.37
OcrlOLFOlfactory bulb13.99
9.89
OcrlPPons3.97
3.42
OcrlPALPallidum6.61
4.65
OcrlRHPRetrohippocampal region21.01
14.19
OcrlsAMYStriatum-like amygdalar nuclei6.66
4.01
OcrlSTRStriatum5.68
3.52
OcrlSTRdStriatum dorsal region5.49
3.42
OcrlSTRvStriatum ventral region7.08
4.07
OcrlTHThalamus3.98
2.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027500 12 95 106 RFEIPDEEHCLK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved