AutismKB 2.0

Annotation Detail for RYR3


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Basic Information Top
Gene Symbol:RYR3 ( - )
Gene Full Name: ryanodine receptor 3
Band: 15q13.3-q14
Quick LinksEntrez ID:6263; OMIM: 180903; Uniprot ID:RYR3_HUMAN; ENSEMBL ID: ENSG00000198838; HGNC ID: 10485
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
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
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 tumor6 / 12519147
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206306_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte5.4
AdrenalCortex6.05
Adrenalgland4.85
Amygdala31.6
Appendix6.15
AtrioventricularNode4.7
BDCA4+_DentriticCells5.6
Bonemarrow5.75
BronchialEpithelialCells5.3
CD105+_Endothelial5.6
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.75
CD33+_Myeloid6.85
CD34+57.6
CD4+_Tcells5.75
CD56+_NKCells6.25
CD71+_EarlyErythroid5.25
CD8+_Tcells5.1
CardiacMyocytes7.8
Caudatenucleus28
Cerebellum4.55
CerebellumPeduncles6.55
CiliaryGanglion4.3
CingulateCortex14.75
Colorectaladenocarcinoma5.55
DorsalRootGanglion4.6
FetalThyroid5.4
Fetalbrain39.4
Fetalliver5.6
Fetallung4.3
GlobusPallidus4.3
Heart7.8
Hypothalamus28.9
Kidney4.7
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.3
Liver7.8
Lung6.05
Lymphnode4.6
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)8.25
MedullaOblongata6.35
OccipitalLobe8.5
OlfactoryBulb4.35
Ovary3.9
Pancreas4.55
PancreaticIslet6
ParietalLobe8.05
Pituitary6.45
Placenta5.55
Pons5.4
PrefrontalCortex26.45
Prostate6.4
Salivarygland4.5
SkeletalMuscle7.25
Skin4.7
SmoothMuscle6.25
Spinalcord15.9
SubthalamicNucleus5.35
SuperiorCervicalGanglion7.05
TemporalLobe5.2
Testis4.75
TestisGermCell4.5
TestisIntersitial4.65
TestisLeydigCell5.6
TestisSeminiferousTubule4.7
Thalamus14.8
Thymus4.25
Thyroid6.8
Tongue5.7
Tonsil5.45
Trachea4.6
TrigeminalGanglion7.15
Uterus8.6
UterusCorpus5.25
WholeBlood6.05
Wholebrain4.5
colon5.6
pineal_day127.54
pineal_night97.04
retina6.775
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9927_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
Amygdala5.98 ± 0.43
Basal Forebrain5.93 ± 0.3
Basal Part of Pons4.58 ± 0.7
Cerebellar Cortex4.97 ± 0.37
Cerebellar Nuclei4.8 ± 0.85
Claustrum4.89 ± 0.49
Epithalamus5.84 ± 0.34
Frontal Lobe5.48 ± 0.52
Globus Pallidus6.65 ± 0.61
Hypothalamus4.95 ± 0.62
Insula5.68 ± 0.24
Limbic Lobe5.93 ± 0.7
Mesencephalon5.76 ± 0.52
Myelencephalon5.69 ± 0.81
Occipital Lobe6.04 ± 0.73
Parietal Lobe5.59 ± 0.5
Pontine Tegmentum5.9 ± 0.48
Striatum7.23 ± 0.53
Subthalamus5.96 ± 0.34
Temporal Lobe5.44 ± 0.46
Thalamus5.79 ± 0.51
White Matter4.12 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ryr3CBCerebellum3.26
3.68
Ryr3CTXCerebral cortex0.98
1.04
Ryr3HIPHippocampal region1.64
2.16
Ryr3HPFHippocampal formation1.26
1.72
Ryr3HYHypothalamus0.37
0.37
Ryr3LSXLateral septal complex0.56
0.4
Ryr3MBMidbrain0.31
0.41
Ryr3MYMedulla1.01
1.37
Ryr3OLFOlfactory bulb1.01
1.17
Ryr3PPons0.47
0.57
Ryr3PALPallidum0.22
0.68
Ryr3RHPRetrohippocampal region0.52
0.79
Ryr3sAMYStriatum-like amygdalar nuclei0.43
0.65
Ryr3STRStriatum0.52
0.54
Ryr3STRdStriatum dorsal region0.56
0.62
Ryr3STRvStriatum ventral region0.47
0.38
Ryr3THThalamus0.54
0.55
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