Evidence Detail for MYO5A

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Basic Information Top

Gene Symbol:	MYO5A ( GS1,MYH12,MYO5,MYR12 )
Gene Full Name:	myosin VA (heavy chain 12, myoxin)
Band:	15q21
Quick Links	Entrez ID:4644; OMIM: 160777; Uniprot ID:MYO5A_HUMAN; ENSEMBL ID: ENSG00000197535

Sequences Top

nucleotide Sequence
Protein Sequence

>MYO5A|4644|nucleotide
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Evidence Statistic Top

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Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	No	0 (0)	1 (1)	1 (1)	1 (1)	0 (0)	0 (0)	4 (2)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

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

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

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

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Gregg, 2008_1	mixed	lymphoblastoid cell lines	35 (14.29%)			autism	autism	12 (25.00%)	1.636	Up	0.0271
Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA) ProbeSet: 204527_at RefSeq_ID/ EST: NM_000259 GEO_ID: GSE6575 Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini

Proteomics Studies:0

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0000028	15	15q21.2-26.3	gain	1	-	CNVs Overlapping With ACRD;	Szatmari, 2007
AutCNV0000110	15	15q21.2-26.3	gain	1	-	Overlapping/Recurrent CNVs;	Szatmari, 2007

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
AutLD0000157	15q21.2-q22.1	15	rs11856	5.31	-	-	Allen-Brady, 2010
AutLD0000158	15q21.1-q22.2	15	rs383902	1.49	-	-	Allen-Brady, 2010

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
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