Evidence Details for MYO6
Basic Information Top
Gene Symbol: | MYO6 ( DFNA22,DFNB37,KIAA0389 ) |
---|---|
Gene Full Name: | myosin VI |
Band: | 6q14.1 |
Quick Links | Entrez ID:4646; OMIM: 600970; Uniprot ID:MYO6_HUMAN; ENSEMBL ID: ENSG00000196586; HGNC ID: 7605 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MYO6|4646|nucleotide
ATGGAGGATGGAAAGCCCGTTTGGGCGCCACACCCTACAGATGGATTTCAGATGGGCAATATTGTGGATATTGGCCCCGACAGCTTAACAATTGAACCCTTGAAT
CAGAAAGGCAAGACATTTTTGGCTCTCATAAACCAAGTGTTTCCTGCAGAAGAGGACAGTAAAAAAGATGTGGAAGATAACTGTTCACTAATGTATTTAAATGAA
GCCACACTGCTCCATAATATCAAAGTTCGATATAGTAAAGACAGAATTTATACATATGTCGCCAACATTCTGATTGCAGTGAATCCATACTTTGACATACCTAAA
ATATATTCTTCAGAAGCAATAAAGTCATATCAAGGAAAATCTCTTGGGACAAGACCACCTCATGTCTTTGCAATTGCTGATAAAGCTTTTCGAGACATGAAGGTG
CTCAAGATGAGTCAGTCTATCATTGTATCTGGAGAATCAGGAGCCGGCAAAACAGAAAATACAAAATTTGTTCTAAGATACCTGACTGAATCCTATGGAACAGGT
CAAGATATTGATGACAGAATTGTTGAAGCTAACCCACTCCTAGAAGCCTTTGGAAATGCGAAGACTGTTCGCAACAATAATAGCAGTCGATTTGGGAAATTTGTA
GAAATACATTTTAATGAAAAGAGCTCAGTTGTTGGAGGATTTGTTTCACATTATCTCCTAGAGAAATCTAGGATCTGTGTTCAAGGCAAAGAGGAAAGAAATTAT
CATATCTTTTATAGGTTGTGTGCTGGTGCTTCTGAAGATATTAGAGAAAAACTTCATTTGAGTTCACCAGATAATTTTCGGTATTTAAACCGAGGCTGCACTAGA
TACTTTGCTAACAAAGAAACTGACAAACAGATTTTACAGAACCGCAAAAGTCCTGAGTACCTTAAGGCAGGTTCTATGAAAGATCCTCTGCTAGATGACCATGGT
GATTTTATTAGAATGTGCACGGCTATGAAAAAAATTGGTTTGGATGATGAAGAAAAGCTTGATCTCTTCCGGGTAGTAGCTGGCGTCCTGCACCTTGGAAATATT
GATTTTGAGGAAGCTGGCAGCACTTCAGGTGGTTGTAATCTGAAGAATAAATCTGCTCAGTCTTTGGAATATTGTGCTGAATTACTGGGTTTGGACCAAGATGAT
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ATGGAGGATGGAAAGCCCGTTTGGGCGCCACACCCTACAGATGGATTTCAGATGGGCAATATTGTGGATATTGGCCCCGACAGCTTAACAATTGAACCCTTGAAT
CAGAAAGGCAAGACATTTTTGGCTCTCATAAACCAAGTGTTTCCTGCAGAAGAGGACAGTAAAAAAGATGTGGAAGATAACTGTTCACTAATGTATTTAAATGAA
GCCACACTGCTCCATAATATCAAAGTTCGATATAGTAAAGACAGAATTTATACATATGTCGCCAACATTCTGATTGCAGTGAATCCATACTTTGACATACCTAAA
ATATATTCTTCAGAAGCAATAAAGTCATATCAAGGAAAATCTCTTGGGACAAGACCACCTCATGTCTTTGCAATTGCTGATAAAGCTTTTCGAGACATGAAGGTG
CTCAAGATGAGTCAGTCTATCATTGTATCTGGAGAATCAGGAGCCGGCAAAACAGAAAATACAAAATTTGTTCTAAGATACCTGACTGAATCCTATGGAACAGGT
CAAGATATTGATGACAGAATTGTTGAAGCTAACCCACTCCTAGAAGCCTTTGGAAATGCGAAGACTGTTCGCAACAATAATAGCAGTCGATTTGGGAAATTTGTA
GAAATACATTTTAATGAAAAGAGCTCAGTTGTTGGAGGATTTGTTTCACATTATCTCCTAGAGAAATCTAGGATCTGTGTTCAAGGCAAAGAGGAAAGAAATTAT
CATATCTTTTATAGGTTGTGTGCTGGTGCTTCTGAAGATATTAGAGAAAAACTTCATTTGAGTTCACCAGATAATTTTCGGTATTTAAACCGAGGCTGCACTAGA
TACTTTGCTAACAAAGAAACTGACAAACAGATTTTACAGAACCGCAAAAGTCCTGAGTACCTTAAGGCAGGTTCTATGAAAGATCCTCTGCTAGATGACCATGGT
GATTTTATTAGAATGTGCACGGCTATGAAAAAAATTGGTTTGGATGATGAAGAAAAGCTTGATCTCTTCCGGGTAGTAGCTGGCGTCCTGCACCTTGGAAATATT
GATTTTGAGGAAGCTGGCAGCACTTCAGGTGGTTGTAATCTGAAGAATAAATCTGCTCAGTCTTTGGAATATTGTGCTGAATTACTGGGTTTGGACCAAGATGAT
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>MYO6|4646|protein
MEDGKPVWAPHPTDGFQMGNIVDIGPDSLTIEPLNQKGKTFLALINQVFPAEEDSKKDVEDNCSLMYLNEATLLHNIKVRYSKDRIYTYVANILIAVNPYFDIPK
IYSSEAIKSYQGKSLGTRPPHVFAIADKAFRDMKVLKMSQSIIVSGESGAGKTENTKFVLRYLTESYGTGQDIDDRIVEANPLLEAFGNAKTVRNNNSSRFGKFV
EIHFNEKSSVVGGFVSHYLLEKSRICVQGKEERNYHIFYRLCAGASEDIREKLHLSSPDNFRYLNRGCTRYFANKETDKQILQNRKSPEYLKAGSMKDPLLDDHG
DFIRMCTAMKKIGLDDEEKLDLFRVVAGVLHLGNIDFEEAGSTSGGCNLKNKSAQSLEYCAELLGLDQDDLRVSLTTRVMLTTAGGTKGTVIKVPLKVEQANNAR
DALAKTVYSHLFDHVVNRVNQCFPFETSSYFIGVLDIAGFEYFEHNSFEQFCINYCNEKLQQFFNERILKEEQELYQKEGLGVNEVHYVDNQDCIDLIEAKLVGI
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MEDGKPVWAPHPTDGFQMGNIVDIGPDSLTIEPLNQKGKTFLALINQVFPAEEDSKKDVEDNCSLMYLNEATLLHNIKVRYSKDRIYTYVANILIAVNPYFDIPK
IYSSEAIKSYQGKSLGTRPPHVFAIADKAFRDMKVLKMSQSIIVSGESGAGKTENTKFVLRYLTESYGTGQDIDDRIVEANPLLEAFGNAKTVRNNNSSRFGKFV
EIHFNEKSSVVGGFVSHYLLEKSRICVQGKEERNYHIFYRLCAGASEDIREKLHLSSPDNFRYLNRGCTRYFANKETDKQILQNRKSPEYLKAGSMKDPLLDDHG
DFIRMCTAMKKIGLDDEEKLDLFRVVAGVLHLGNIDFEEAGSTSGGCNLKNKSAQSLEYCAELLGLDQDDLRVSLTTRVMLTTAGGTKGTVIKVPLKVEQANNAR
DALAKTVYSHLFDHVVNRVNQCFPFETSSYFIGVLDIAGFEYFEHNSFEQFCINYCNEKLQQFFNERILKEEQELYQKEGLGVNEVHYVDNQDCIDLIEAKLVGI
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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