AutismKB 2.0

Evidence Details 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
Sequences Top
>RYR2|6262|nucleotide
ATGGCCGATGGGGGCGAGGGCGAAGACGAGATCCAGTTCCTGCGAACTGATGATGAAGTGGTTCTGCAGTGCACCGCAACCATCCACAAAGAACAACAGAAGCTA
TGCTTGGCAGCAGAAGGATTTGGCAACAGACTTTGTTTCTTGGAGTCCACTTCCAATTCCAAGAATGTGCCCCCAGACCTCTCCATCTGCACCTTTGTGCTGGAG
CAGTCCCTCTCTGTCCGGGCGCTGCAGGAGATGCTGGCTAACACCGTGGAGAAATCAGAAGGGCAAGTTGATGTGGAAAAATGGAAATTCATGATGAAGACTGCT
CAAGGTGGTGGTCATCGAACACTCCTCTACGGACATGCCATATTGCTGCGCCATTCCTATAGTGGCATGTATCTGTGCTGCCTGTCCACCTCCCGGTCTTCAACT
GATAAGCTGGCTTTTGATGTTGGCTTGCAAGAGGACACCACAGGGGAGGCTTGTTGGTGGACCATACACCCTGCCTCTAAGCAGCGATCAGAAGGAGAAAAAGTA
CGAGTTGGAGATGACCTCATCTTAGTTAGCGTGTCCTCTGAAAGGTACTTGCACTTGTCTTATGGCAACGGCAGCTTACACGTGGATGCCGCTTTCCAGCAGACT
CTCTGGAGCGTGGCCCCAATCAGCTCAGGAAGTGAGGCAGCCCAAGGGTATCTCATTGGTGGTGATGTCCTCAGGTTGCTGCATGGACACATGGACGAGTGTCTC
ACTGTCCCTTCAGGAGAACATGGTGAAGAGCAGCGGAGAACTGTTCATTATGAAGGTGGCGCTGTGTCTGTTCATGCACGTTCCCTTTGGAGACTAGAGACGCTA
AGAGTTGCGTGGAGTGGAAGCCACATAAGATGGGGACAGCCATTCCGACTACGCCATGTCACAACAGGAAAATACTTGAGTCTCATGGAAGACAAAAACCTTCTA
CTCATGGACAAAGAGAAAGCTGATGTAAAATCAACAGCATTTACCTTCCGGTCTTCCAAGGAAAAATTGGATGTAGGGGTGAGAAAAGAAGTAGATGGCATGGGA
ACATCTGAAATAAAATACGGTGACTCAGTATGCTATATACAACATGTAGACACAGGCCTATGGCTTACTTACCAGTCTGTGGACGTGAAATCCGTGAGAATGGGA
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>RYR2|6262|protein
MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPPDLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTA
QGGGHRTLLYGHAILLRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDDLILVSVSSERYLHLSYGNGSLHVDAAFQQT
LWSVAPISSGSEAAQGYLIGGDVLRLLHGHMDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHVTTGKYLSLMEDKNLL
LMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSVCYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR
STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLRALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGES
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 1 (2) 1 (2) 1 (1) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 19 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Lu, 2010_1 Re-analysis Illumina HumanHap 550K BeadChip 990 -
(-)
ASD -
-
-
-
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Soueid J, 2016 Lebanese -autistic 35 33 2 - 41 37 78
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.894394 Down 22.7061
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1760798
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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