AutismKB 2.0

Annotation Detail for RYR1


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Basic Information Top
Gene Symbol:RYR1 ( CCO,MHS,MHS1,RYDR,RYR,SKRR )
Gene Full Name: ryanodine receptor 1 (skeletal)
Band: 19q13.2
Quick LinksEntrez ID:6261; OMIM: 180901; Uniprot ID:RYR1_HUMAN; ENSEMBL ID: ENSG00000196218; HGNC ID: 10483
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
fetus3 / 5640125
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult68 / 193912135
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 tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor13 / 13630295
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal51 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
bone1 / 7165513
bone marrow0 / 488010 
brain28 / 110098925
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx12 / 24145496
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle23 / 107715213
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205485_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.7
Adipocyte3.75
AdrenalCortex4
Adrenalgland3.2
Amygdala5.35
Appendix3.8
AtrioventricularNode2.9
BDCA4+_DentriticCells4.3
Bonemarrow3.75
BronchialEpithelialCells3.75
CD105+_Endothelial3.85
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+4.8
CD4+_Tcells4.1
CD56+_NKCells4.5
CD71+_EarlyErythroid3.55
CD8+_Tcells3.6
CardiacMyocytes4.8
Caudatenucleus3.45
Cerebellum3.1
CerebellumPeduncles4.5
CiliaryGanglion2.65
CingulateCortex4
Colorectaladenocarcinoma4
DorsalRootGanglion2.9
FetalThyroid3.75
Fetalbrain3.75
Fetalliver3.3
Fetallung3.15
GlobusPallidus2.9
Heart4.9
Hypothalamus11.15
Kidney3.05
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.05
Liver5.05
Lung4.45
Lymphnode3.25
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.3
MedullaOblongata3.45
OccipitalLobe3.45
OlfactoryBulb3.05
Ovary2.55
Pancreas3.05
PancreaticIslet4.05
ParietalLobe4.05
Pituitary4.45
Placenta3.9
Pons3.7
PrefrontalCortex5.2
Prostate4.45
Salivarygland3
SkeletalMuscle389.65
Skin2.9
SmoothMuscle4.3
Spinalcord4.95
SubthalamicNucleus3.65
SuperiorCervicalGanglion4.3
TemporalLobe3.55
Testis3.5
TestisGermCell3.2
TestisIntersitial3.55
TestisLeydigCell3.85
TestisSeminiferousTubule3.25
Thalamus4
Thymus3
Thyroid9.25
Tongue87.25
Tonsil3.7
Trachea3.2
TrigeminalGanglion3.85
Uterus3.1
UterusCorpus3.45
WholeBlood4.15
Wholebrain3.3
colon3.85
pineal_day598.5
pineal_night229.16
retina8.55
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P170544
  • 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
Amygdala3.07 ± 0.75
Basal Forebrain2.81 ± 0.63
Basal Part of Pons2.8 ± 0.45
Cerebellar Cortex3.23 ± 0.36
Cerebellar Nuclei2.8 ± 0.61
Claustrum2.75 ± 0.82
Epithalamus2.67 ± 0.59
Frontal Lobe2.62 ± 0.63
Globus Pallidus3.22 ± 0.96
Hypothalamus3.01 ± 0.52
Insula2.6 ± 0.66
Limbic Lobe2.86 ± 0.62
Mesencephalon2.69 ± 0.7
Myelencephalon2.77 ± 0.6
Occipital Lobe2.99 ± 0.72
Parietal Lobe2.88 ± 0.6
Pontine Tegmentum2.75 ± 0.66
Striatum2.72 ± 0.69
Subthalamus2.59 ± 0.68
Temporal Lobe2.71 ± 0.63
Thalamus2.8 ± 0.61
White Matter3.5 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ryr1CBCerebellum29.1
95.16
Ryr1CTXCerebral cortex54.82
45.6
Ryr1HIPHippocampal region47.91
75.07
Ryr1HPFHippocampal formation46.77
58.76
Ryr1HYHypothalamus12.98
10.97
Ryr1LSXLateral septal complex14.06
10.22
Ryr1MBMidbrain12.02
11.48
Ryr1MYMedulla32.89
42.49
Ryr1OLFOlfactory bulb47.27
50.38
Ryr1PPons17.07
18.17
Ryr1PALPallidum28.18
26.31
Ryr1RHPRetrohippocampal region47.28
39.82
Ryr1sAMYStriatum-like amygdalar nuclei38.69
30.19
Ryr1STRStriatum88.68
78.51
Ryr1STRdStriatum dorsal region100
91.48
Ryr1STRvStriatum ventral region79.07
72.27
Ryr1THThalamus19.66
18.85
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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