Evidence Details for MYO3B

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Basic Information Top

Gene Symbol:	MYO3B ( - )
Gene Full Name:	myosin IIIB
Band:	2q31.1
Quick Links	Entrez ID:140469; OMIM: 610040; Uniprot ID:MYO3B_HUMAN; ENSEMBL ID: ENSG00000071909; HGNC ID: 15576
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MYO3B|140469|nucleotide
ATGAAACATCTGTATGGATTATTTCACTATAATCCTATGATGCTTGGACTTGAATCACTTCCAGATCCCACAGACACCTGGGAAATTATAGAGACCATTGGTAAA
GGCACCTATGGCAAAGTCTACAAGGTAACTAACAAGAGAGATGGGAGCCTGGCTGCAGTGAAAATTCTGGATCCAGTCAGTGATATGGATGAAGAAATTGAGGCA
GAATACAACATTTTGCAGTTCCTTCCTAATCATCCCAATGTTGTAAAGTTTTATGGGATGTTTTACAAAGCGGATCACTGTGTAGGGGGACAGCTGTGGCTGGTC
CTGGAGCTGTGTAATGGGGGCTCAGTCACTGAGCTTGTCAAAGGTCTACTCAGATGTGGCCAGCGGTTGGATGAAGCAATGATCTCATACATCTTGTACGGGGCC
CTCTTGGGCCTTCAGCATTTGCACAACAACCGAATCATCCACCGTGATGTGAAGGGGAATAACATTCTTCTGACAACAGAAGGAGGAGTTAAGCTCGTTGACTTT
GGTGTTTCAGCTCAACTCACCAGTACACGTCTGCGGAGAAACACATCTGTTGGCACCCCGTTCTGGATGGCCCCTGAGGTCATTGCCTGTGAGCAGCAGTATGAC
TCTTCCTATGACGCTCGCTGTGACGTCTGGTCCTTGGGGATCACAGCTATTGAACTGGGGGATGGAGACCCTCCCCTCTTTGACATGCATCCTGTGAAAACACTC
TTTAAGATTCCAAGAAATCCTCCACCTACTTTACTTCATCCAGAAAAATGGTGTGAAGAATTCAACCACTTTATTTCACAGTGTCTTATTAAGGATTTTGAAAGG
CGACCTTCCGTCACACATCTCCTTGACCACCCATTTATTAAAGGAGTACATGGAAAAGTTCTGTTTCTGCAAAAACAGCTGGCCAAGGTTCTCCAAGACCAGAAG
CATCAAAATCCTGTTGCTAAAACCAGGCATGAGAGGATGCATACCAGAAGACCTTATCATGTGGAAGATGCTGAAAAATACTGCCTTGAGGATGATTTGGTCAAC
CTAGAGGTTCTGGATGAGGATACAATTATCCATCAGTTGCAGAAACGTTATGCAGACTTGCTAATTTACACATATGTTGGAGACATCTTAATTGCCTTAAACCCC
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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	1 (1)	0 (1)	2 (4)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	8 (6)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Maestrini, 2009_4	Discovery	GoldenGate assay (Illumina, San Diego, CA, USA)	126 (18.25%)			ASD	- -	-	188 (18.09%)	- -

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
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283

Linkage Studies Top

AutismKB 2.0

Evidence Details for MYO3B