AutismKB 2.0

Annotation Detail for RYR2


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Basic Information Top
Gene Symbol:RYR2 ( ARVC2,ARVD2,VTSIP )
Gene Full Name: ryanodine receptor 2 (cardiac)
Band: 1q43
Quick LinksEntrez ID:6262; OMIM: 180902; Uniprot ID:RYR2_HUMAN; ENSEMBL ID: ENSG00000198626; HGNC ID: 10484
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 
blastocyst2 / 6231932
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult40 / 193912120
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal97 / 336030728
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 tumor3 / 12519123
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 
bone1 / 7165513
bone marrow0 / 488010 
brain31 / 110098928
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye7 / 21105433
heart9 / 89626100
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver7 / 20774333
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis6 / 33044218
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: 214044_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.65
Adipocyte6.7
AdrenalCortex8.5
Adrenalgland6.25
Amygdala17.6
Appendix8.15
AtrioventricularNode6.75
BDCA4+_DentriticCells6.7
Bonemarrow7.6
BronchialEpithelialCells6.7
CD105+_Endothelial6.8
CD14+_Monocytes7.4
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid8.4
CD34+8.2
CD4+_Tcells6.95
CD56+_NKCells7.6
CD71+_EarlyErythroid6.5
CD8+_Tcells6.2
CardiacMyocytes11.95
Caudatenucleus32.6
Cerebellum5.8
CerebellumPeduncles8.55
CiliaryGanglion6.1
CingulateCortex10.45
Colorectaladenocarcinoma6.95
DorsalRootGanglion6.1
FetalThyroid8.65
Fetalbrain7.05
Fetalliver6.2
Fetallung5.25
GlobusPallidus7.95
Heart62.05
Hypothalamus7.15
Kidney6.4
Leukemia_chronicMyelogenousK-5626.2
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)5.25
Liver10.7
Lung7.55
Lymphnode5.65
Lymphoma_burkitts(Daudi)9.25
Lymphoma_burkitts(Raji)10.9
MedullaOblongata17.25
OccipitalLobe6.65
OlfactoryBulb5.4
Ovary5.35
Pancreas5.9
PancreaticIslet7.55
ParietalLobe8.55
Pituitary7.9
Placenta6.55
Pons7.3
PrefrontalCortex68.8
Prostate7.9
Salivarygland5.85
SkeletalMuscle10.4
Skin6.3
SmoothMuscle7.8
Spinalcord7.35
SubthalamicNucleus7.95
SuperiorCervicalGanglion9.75
TemporalLobe6.85
Testis5.7
TestisGermCell5.45
TestisIntersitial5.95
TestisLeydigCell7.25
TestisSeminiferousTubule5.9
Thalamus7.15
Thymus5.15
Thyroid9.5
Tongue7.6
Tonsil6.8
Trachea5.7
TrigeminalGanglion8.3
Uterus5.45
UterusCorpus6.95
WholeBlood7.5
Wholebrain7.3
colon6.95
pineal_day27.5
pineal_night36.9
retina8.375
small_intestine6.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14652_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
Amygdala8.61 ± 0.5
Basal Forebrain8.04 ± 0.45
Basal Part of Pons8.44 ± 0.37
Cerebellar Cortex7.5 ± 0.46
Cerebellar Nuclei8.2 ± 0.79
Claustrum8.09 ± 0.71
Epithalamus6.47 ± 0.66
Frontal Lobe7.49 ± 0.71
Globus Pallidus5.85 ± 0.64
Hypothalamus7.24 ± 0.67
Insula7.44 ± 0.52
Limbic Lobe8.4 ± 0.73
Mesencephalon7.47 ± 0.79
Myelencephalon7.67 ± 0.95
Occipital Lobe8.72 ± 0.76
Parietal Lobe8.01 ± 0.71
Pontine Tegmentum7.87 ± 0.69
Striatum9.38 ± 0.54
Subthalamus8.74 ± 0.1
Temporal Lobe7.8 ± 0.53
Thalamus6.67 ± 0.71
White Matter5.3 ± 0.9
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ryr2CBCerebellum86.93
100
Ryr2CTXCerebral cortex100
100
Ryr2HIPHippocampal region100
100
Ryr2HPFHippocampal formation100
100
Ryr2HYHypothalamus100
100
Ryr2LSXLateral septal complex100
100
Ryr2MBMidbrain100
100
Ryr2MYMedulla100
100
Ryr2OLFOlfactory bulb100
100
Ryr2PPons96.02
100
Ryr2PALPallidum100
100
Ryr2RHPRetrohippocampal region100
100
Ryr2sAMYStriatum-like amygdalar nuclei100
100
Ryr2STRStriatum100
100
Ryr2STRdStriatum dorsal region100
100
Ryr2STRvStriatum ventral region100
100
Ryr2THThalamus57.85
59.62
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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