AutismKB 2.0

Annotation Detail for OCA2


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Basic Information Top
Gene Symbol:OCA2 ( BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1 )
Gene Full Name: oculocutaneous albinism II
Band: 15q12-q13.1
Quick LinksEntrez ID:4948; OMIM: 611409; Uniprot ID:P_HUMAN; ENSEMBL ID: ENSG00000104044; HGNC ID: 8101
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 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult10 / 19391215
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal26 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206498_at
Cell line Expression level Expression bar
721_B_lymphoblasts35.85
Adipocyte35.4
AdrenalCortex38.95
Adrenalgland38.55
Amygdala38.65
Appendix37.1
AtrioventricularNode29.3
BDCA4+_DentriticCells23.75
Bonemarrow38.7
BronchialEpithelialCells35.3
CD105+_Endothelial30.95
CD14+_Monocytes38.6
CD19+_BCells(neg._sel.)33.5
CD33+_Myeloid44.75
CD34+31.1
CD4+_Tcells37.65
CD56+_NKCells33.75
CD71+_EarlyErythroid34.05
CD8+_Tcells33.4
CardiacMyocytes48.15
Caudatenucleus33.1
Cerebellum31.7
CerebellumPeduncles41.9
CiliaryGanglion26.85
CingulateCortex37.8
Colorectaladenocarcinoma37.05
DorsalRootGanglion41.35
FetalThyroid35.65
Fetalbrain51.75
Fetalliver46.05
Fetallung30.35
GlobusPallidus27.35
Heart81.75
Hypothalamus40
Kidney40.5
Leukemia_chronicMyelogenousK-56239.9
Leukemia_promyelocytic-HL-6033.2
Leukemialymphoblastic(MOLT-4)31
Liver52.9
Lung40.3
Lymphnode32.6
Lymphoma_burkitts(Daudi)46.55
Lymphoma_burkitts(Raji)54.65
MedullaOblongata33.6
OccipitalLobe32.55
OlfactoryBulb28.05
Ovary25.7
Pancreas29.75
PancreaticIslet39.4
ParietalLobe46.85
Pituitary50.3
Placenta37.55
Pons37.7
PrefrontalCortex43.15
Prostate43
Salivarygland29.6
SkeletalMuscle46.9
Skin29.3
SmoothMuscle41.8
Spinalcord39.5
SubthalamicNucleus33.6
SuperiorCervicalGanglion43.65
TemporalLobe34.55
Testis36.75
TestisGermCell32.3
TestisIntersitial31.3
TestisLeydigCell36.55
TestisSeminiferousTubule31.6
Thalamus34.1
Thymus28.6
Thyroid55.95
Tongue37.1
Tonsil35.75
Trachea31.15
TrigeminalGanglion50.85
Uterus30.15
UterusCorpus48.5
WholeBlood40.15
Wholebrain31.35
colon42.75
pineal_day41.18
pineal_night42.4
retina179.875
small_intestine35.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16949_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
Amygdala2.54 ± 1.08
Basal Forebrain2.3 ± 0.62
Basal Part of Pons1.81 ± 0.36
Cerebellar Cortex1.81 ± 0.48
Cerebellar Nuclei2.42 ± 0.72
Claustrum2.78 ± 0.62
Epithalamus2.34 ± 0.85
Frontal Lobe2.18 ± 0.78
Globus Pallidus2.37 ± 0.41
Hypothalamus2.33 ± 0.74
Insula2.33 ± 0.59
Limbic Lobe2.2 ± 0.67
Mesencephalon2.32 ± 0.74
Myelencephalon2.2 ± 0.66
Occipital Lobe1.83 ± 0.72
Parietal Lobe2.18 ± 0.68
Pontine Tegmentum2.3 ± 0.74
Striatum2.17 ± 0.92
Subthalamus2.25 ± 0.78
Temporal Lobe2.35 ± 0.65
Thalamus2.08 ± 0.62
White Matter1.99 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
pCBCerebellum1.89
1.94
pCTXCerebral cortex0.68
0.88
pHIPHippocampal region0.52
0.6
pHPFHippocampal formation0.52
0.54
pHYHypothalamus0.04
0.04
pLSXLateral septal complex0
0
pMBMidbrain0.18
0.32
pMYMedulla1.4
1.7
pOLFOlfactory bulb0.84
0.63
pPPons0.77
0.91
pPALPallidum0.25
0.39
pRHPRetrohippocampal region0.54
0.47
psAMYStriatum-like amygdalar nuclei2.76
2.07
pSTRStriatum0.64
0.7
pSTRdStriatum dorsal region0.55
0.72
pSTRvStriatum ventral region0.12
0.24
pTHThalamus0.48
0.73
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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