Evidence Detail for MYO3B

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Basic Information Top

Gene Symbol:	MYO3B ( - )
Gene Full Name:	myosin IIIB
Band:	2q31.1-q31.2
Quick Links	Entrez ID:140469; OMIM: 610040; Uniprot ID:MYO3B_HUMAN; ENSEMBL ID: ENSG00000071909

Sequences Top

nucleotide Sequence
Protein Sequence

>MYO3B|140469|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	1 (1)	0 (0)	1 (1)	2 (4)	0 (0)	0 (0)	10 (5)

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

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Maestrini, 2009_4	Discovery	2 (detail)	126 (18.25%)			ASD	- -	-	188 (18.09%)	- -

Other Low Scale Gene Studies Top

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

Large Scale Expression Studies Top

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

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
AutCNV0001194	2	2q31.1	gain	1	-	maternal	Pinto, 2010

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
AutLD0000030	2q31.1	2	D2S2188	3.74	-	-	Monaco, 2001
AutLD0000071	2q31.1	2	D2S335	1.2	-	-	Buxbaum, 2001
AutLD0000076	2q31.1-31.3	2	D2S2314/D2S2310	2.54	-	-	Lamb, 2005
AutLD0000127	2q31.1	2	D2S2381	-	-	0.00525	Lauritsen, 2006

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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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