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

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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