AutismKB 2.0

Evidence Details for MYO5B


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Basic Information Top
Gene Symbol:MYO5B ( KIAA1119 )
Gene Full Name: myosin VB
Band: 18q
Quick LinksEntrez ID:4645; OMIM: 606540; Uniprot ID:MYO5B_HUMAN; ENSEMBL ID: ENSG00000167306; HGNC ID: 7603
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO5B|4645|nucleotide
ATGTCGGTGGGCGAGCTCTACAGCCAGTGCACAAGGGTCTGGATCCCTGACCCTGATGAGGTATGGCGCTCAGCTGAGTTAACCAAGGACTACAAAGAAGGAGAC
AAGAGCCTACAGCTCAGACTGGAGGATGAAACGATTCTGGAATACCCAATTGATGTACAACGCAACCAGCTGCCCTTCTTACGGAATCCAGATATCTTGGTGGGA
GAAAATGACCTGACTGCCCTTAGCTATCTTCATGAGCCTGCAGTTTTGCATAATTTGAAGGTCCGTTTCCTGGAGTCCAACCATATCTACACTTACTGTGGTATC
GTACTTGTTGCCATTAATCCTTATGAACAGTTGCCAATCTATGGACAAGATGTCATCTATACCTACAGTGGCCAAAACATGGGAGACATGGACCCCCACATCTTT
GCTGTGGCAGAAGAAGCCTACAAGCAGATGGCCAGAGATGAGAAGAATCAGTCCATCATAGTCAGTGGGGAGTCTGGAGCCGGGAAGACGGTATCAGCCAAGTAT
GCCATGCGCTATTTCGCCACCGTTGGTGGCTCGGCCAGTGAAACCAACATCGAAGAGAAGGTGCTGGCATCCAGTCCCATCATGGAGGCCATTGGAAATGCCAAG
ACCACCCGCAATGACAACAGCAGCCGTTTTGGCAAGTACATCCAGATTGGCTTTGACAAAAGGTACCACATCATCGGGGCCAACATGAGGACTTACCTCTTGGAG
AAGTCCAGAGTGGTCTTCCAGGCAGATGATGAGAGGAATTACCACATCTTTTACCAGCTCTGTGCTGCTGCCGGTCTTCCAGAATTTAAAGAGCTTGCACTAACA
AGTGCAGAGGACTTTTTCTATACATCACAGGGAGGAGACACTTCCATCGAGGGTGTGGACGATGCTGAGGACTTTGAGAAGACTCGACAAGCCTTCACACTCCTC
GGAGTGAAAGAGTCCCATCAGATGAGCATTTTTAAGATAATTGCTTCTATCTTGCACCTTGGAAGTGTGGCGATTCAGGCTGAGCGTGATGGTGATTCCTGTAGT
ATATCACCCCAGGATGTATACCTAAGCAACTTCTGCCGACTGCTAGGGGTGGAGCACAGTCAGATGGAGCACTGGCTGTGTCATCGCAAGCTGGTCACCACCTCG
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>MYO5B|4645|protein
MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGI
VLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAK
TTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLL
GVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHI
NKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWA
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Evidence summary Top

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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 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)		AS -
(3-21)		 -
>70
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)		AS -
(3-21)		 -
>70
Case Control Based Association Studies: 0
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
Linkage Studies Top