AutismKB 2.0

Annotation Detail for RPE65


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Basic Information Top
Gene Symbol:RPE65 ( LCA2,RP20,mRPE65,rd12,sRPE65 )
Gene Full Name: retinal pigment epithelium-specific protein 65kDa
Band: 1p31.3
Quick LinksEntrez ID:6121; OMIM: 180069; Uniprot ID:RPE65_HUMAN; ENSEMBL ID: ENSG00000116745; HGNC ID: 10294
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult9 / 19391214
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 tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal21 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
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 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 207107_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.35
Adipocyte7.7
AdrenalCortex12.15
Adrenalgland7.6
Amygdala7.7
Appendix12.1
AtrioventricularNode9.3
BDCA4+_DentriticCells7.45
Bonemarrow10.8
BronchialEpithelialCells7.45
CD105+_Endothelial7.8
CD14+_Monocytes8.6
CD19+_BCells(neg._sel.)8.1
CD33+_Myeloid9.45
CD34+9.2
CD4+_Tcells7.75
CD56+_NKCells8.65
CD71+_EarlyErythroid7.8
CD8+_Tcells6.9
CardiacMyocytes15.25
Caudatenucleus7.2
Cerebellum6.65
CerebellumPeduncles10.3
CiliaryGanglion8
CingulateCortex8.65
Colorectaladenocarcinoma7.85
DorsalRootGanglion8.45
FetalThyroid8.35
Fetalbrain7.5
Fetalliver7.2
Fetallung5.9
GlobusPallidus6.8
Heart15.75
Hypothalamus8.05
Kidney7.7
Leukemia_chronicMyelogenousK-5627.1
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)5.95
Liver13.1
Lung8.6
Lymphnode6.45
Lymphoma_burkitts(Daudi)10.85
Lymphoma_burkitts(Raji)13.3
MedullaOblongata7.15
OccipitalLobe7.05
OlfactoryBulb6.15
Ovary7.35
Pancreas7.1
PancreaticIslet8.75
ParietalLobe9.5
Pituitary9.35
Placenta7.75
Pons8.4
PrefrontalCortex9.1
Prostate8.9
Salivarygland7.05
SkeletalMuscle16.7
Skin10.55
SmoothMuscle8.95
Spinalcord8.45
SubthalamicNucleus7.8
SuperiorCervicalGanglion14.1
TemporalLobe7.75
Testis6.8
TestisGermCell6.15
TestisIntersitial7
TestisLeydigCell8.85
TestisSeminiferousTubule6.8
Thalamus8.65
Thymus5.8
Thyroid9.25
Tongue9.5
Tonsil8.1
Trachea6.55
TrigeminalGanglion11
Uterus6.05
UterusCorpus8.95
WholeBlood8.4
Wholebrain6.15
colon7.8
pineal_day9.66
pineal_night9.5
retina663.375
small_intestine7.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16137_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
Amygdala2.07 ± 1.01
Basal Forebrain2.36 ± 0.43
Basal Part of Pons1.54 ± 0.32
Cerebellar Cortex2.03 ± 0.63
Cerebellar Nuclei2.02 ± 1
Claustrum2.7 ± 0.91
Epithalamus3.97 ± 0.83
Frontal Lobe2.3 ± 0.92
Globus Pallidus4.9 ± 1.1
Hypothalamus2.93 ± 0.39
Insula1.81 ± 0.54
Limbic Lobe2.05 ± 0.91
Mesencephalon3.26 ± 1.03
Myelencephalon2.73 ± 1.04
Occipital Lobe3.54 ± 1.08
Parietal Lobe2.72 ± 0.95
Pontine Tegmentum2.69 ± 0.85
Striatum2.83 ± 1.16
Subthalamus2.44 ± 0.46
Temporal Lobe2.4 ± 0.91
Thalamus3.83 ± 0.85
White Matter2.24 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rpe65CBCerebellum0.32
0.52
Rpe65CTXCerebral cortex0.6
0.97
Rpe65HIPHippocampal region0.29
0.42
Rpe65HPFHippocampal formation0.24
0.3
Rpe65HYHypothalamus0.07
0.05
Rpe65LSXLateral septal complex0.05
0
Rpe65MBMidbrain0.34
0.47
Rpe65MYMedulla0.33
0.42
Rpe65OLFOlfactory bulb0.3
0.6
Rpe65PPons0.37
0.67
Rpe65PALPallidum0.05
0.05
Rpe65RHPRetrohippocampal region0.14
0.13
Rpe65sAMYStriatum-like amygdalar nuclei0.12
0.1
Rpe65STRStriatum0.29
0.43
Rpe65STRdStriatum dorsal region0.33
0.54
Rpe65STRvStriatum ventral region0.32
0.38
Rpe65THThalamus0.2
0.28
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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