Evidence Details for RYR3

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Basic Information Top

Gene Symbol:	RYR3 ( - )
Gene Full Name:	ryanodine receptor 3
Band:	15q13.3-q14
Quick Links	Entrez ID:6263; OMIM: 180903; Uniprot ID:RYR3_HUMAN; ENSEMBL ID: ENSG00000198838; HGNC ID: 10485
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>RYR3|6263|nucleotide
ATGGCCGAAGGGGGAGAAGGAGGCGAGGACGAGATCCAGTTTCTGAGGACTGAGGATGAAGTGGTACTCCAGTGCATCGCCACCATTCATAAGGAGCAGAGGAAG
TTCTGCCTGGCAGCCGAGGGACTTGGGAATCGCCTGTGCTTCTTGGAACCCACTTCAGAAGCCAAGTACATTCCTCCAGATCTCTGCGTCTGCAATTTTGTGCTG
GAACAGTCCCTATCTGTCAGAGCCCTGCAGGAAATGCTTGCCAACACAGGTGAAAATGGCGGCGAAGGGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATAC
GGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGTATCTAACATGCTTGACTACATCAAGATCCCAGACAGACAAACTTGCCTTTGATGTAGGTCTACGG
GAACATGCCACAGGAGAAGCCTGTTGGTGGACTATACATCCTGCTTCCAAACAGAGGTCCGAAGGAGAGAAAGTTCGAATTGGCGATGACCTCATCCTCGTCAGC
GTGTCCTCTGAAAGATACCTTCATCTCTCAGTATCAAATGGTAACATACAAGTGGATGCCTCCTTTATGCAAACACTCTGGAATGTACATCCTACGTGCTCAGGA
AGTAGCATCGAAGAAGGATACCTACTTGGTGGGCATGTAGTACGTCTTTTCCATGGTCATGATGAATGTTTGACGATACCATCTACAGACCAGAATGATTCCCAG
CACAGGAGGATATTCTACGAAGCTGGGGGAGCTGGGACTCGAGCCAGGTCTCTTTGGAGAGTGGAACCCCTTCGGATAAGCTGGAGTGGCAGTAACATCAGATGG
GGCCAGGCTTTCCGACTCCGGCATCTCACCACAGGCCACTACCTGGCCTTGACAGAAGACCAAGGCCTTATACTGCAAGACCGGGCAAAGTCAGACACCAAGTCC
ACAGCTTTCTCTTTCCGGGCATCAAAGGAACTCAAGGAGAAATTAGACTCCAGTCACAAGCGAGACATAGAAGGCATGGGAGTTCCAGAAATCAAGTATGGAGAT
TCTGTCTGCTTTGTGCAGCATATAGCCAGTGGTCTGTGGGTGACCTACAAAGCACAAGACGCCAAAACTTCCCGCCTGGGACCTCTAAAAAGAAAGGTCATACTC
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>RYR3|6263|protein
MAEGGEGGEDEIQFLRTEDEVVLQCIATIHKEQRKFCLAAEGLGNRLCFLEPTSEAKYIPPDLCVCNFVLEQSLSVRALQEMLANTGENGGEGAAQGGGHRTLLY
GHAVLLRHSFSGMYLTCLTTSRSQTDKLAFDVGLREHATGEACWWTIHPASKQRSEGEKVRIGDDLILVSVSSERYLHLSVSNGNIQVDASFMQTLWNVHPTCSG
SSIEEGYLLGGHVVRLFHGHDECLTIPSTDQNDSQHRRIFYEAGGAGTRARSLWRVEPLRISWSGSNIRWGQAFRLRHLTTGHYLALTEDQGLILQDRAKSDTKS
TAFSFRASKELKEKLDSSHKRDIEGMGVPEIKYGDSVCFVQHIASGLWVTYKAQDAKTSRLGPLKRKVILHQEGHMDDGLTLQRCQREESQAARIIRNTTALFSQ
FVSGNNRTAAPITLPIEEVLQTLQDLIAYFQPPEEEMRHEDKQNKLRSLKNRQNLFKEEGMLALVLNCIDRLNVYNSVAHFAGIAREESGMAWKEILNLLYKLLA
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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)	2 (7)	1 (3)	0 (1)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	6 (12)

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
Wolpert, 2000	-	STS mapping			autism	3	-	3	-	3	-	3
Wassink, 2001	USA	Chromosomal analysis of G-band			autism	-	-	-	-	278	-	278
Silva, 2002	-	FISH			autism	-	-	-	-	1	-	1
Keller, 2003	USA	FISH			ASD	-	-	-	-	2	-	2
Wassink, 2007	USA	FISH			PDD	-	-	-	-	104	-	104
Weiss, 2008	USA, Ireland	aCGH, SNP microarray			ASD	751	-	-	-	2252	23502	25754
Bremer, 2009	-	aCGH			ASD	-	-	-	-	148	-	148

Linkage 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
Philippe, 1999	Sweden, France, Norway, Italy, Austria, Belgium, U	microsatellite-based genomic screen			autism	51	-	51	-	-	-	-
Lauritsen, 2006	Faroe Islands	microsatellite-based genomic screen			autism	-	-	-	-	12	44	56
Allen-Brady, 2010	USA	SNP-based genomic screen			ASD	40	-	40	-	192	461	653

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Tochigi, 2008_1	Japan	ABI PRISM 7900HT Sequence Detection System			ASD	19.9±9.8 -	-	375 (66.13%)	36±11.7 -

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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:

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

AutismKB 2.0

Evidence Details for RYR3

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics