Evidence Details 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 Links	Entrez ID:6261; OMIM: 180901; Uniprot ID:RYR1_HUMAN; ENSEMBL ID: ENSG00000196218; HGNC ID: 10483
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>RYR1|6261|nucleotide
ATGGGTGACGCAGAAGGCGAAGACGAGGTCCAGTTCCTGCGGACGGACGATGAGGTGGTCCTGCAGTGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGC
CTGGCCGCCGAGGGCTTCGGCAACCGCCTGTGCTTCCTGGAGCCCACTAGCAACGCGCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAG
TCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCC
ATCCTGCTCCGGCATGCACACAGCCGCATGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCA
ACAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCC
GAGCGCTACCTGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAG
GGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGACTTGTCTAC
TATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGA
GTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTC
CGCATCTCCAAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTG
GCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGCCATGCTGCACCAGGAGGGCCACATGGACGAC
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>RYR1|6261|protein
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPDLAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHA
ILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWNMNPICSRCEE
GFVTGGHVLRLFHGHMDECLTISPADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVVVDASKAHTKATSFCF
RISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELL
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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	0 (0)	1 (2)	0 (0)	0 (0)	0 (0)	1 (2)	0 (0)	0 (0)	0 (0)	12 (4)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

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
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Zwaag, 2009	-	SNP microarray			autism	-	-	-	-	105	267	372
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for RYR1