Evidence Details for MYO1G
Basic Information Top
Gene Symbol: | MYO1G ( HA2,MGC142104,MHAG ) |
---|---|
Gene Full Name: | myosin IG |
Band: | 7p13 |
Quick Links | Entrez ID:64005; OMIM: 613445; Uniprot ID:MYO1G_HUMAN; ENSEMBL ID: ENSG00000136286; HGNC ID: 13880 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MYO1G|64005|nucleotide
ATGGAGGACGAGGAAGGCCCTGAGTATGGCAAACCTGACTTTGTGCTTTTGGACCAAGTGACCATGGAGGACTTCATGAGGAACCTGCAGCTCAGGTTCGAGAAG
GGCCGCATCTACACCTACATCGGTGAGGTGCTGGTGTCCGTGAACCCCTACCAGGAGCTGCCCCTGTATGGGCCTGAGGCCATCGCCAGGTACCAGGGCCGTGAG
CTCTATGAGCGGCCACCCCATCTCTATGCTGTGGCCAACGCCGCCTACAAGGCAATGAAGCACCGGTCCAGGGACACCTGCATCGTCATCTCAGGGGAGAGTGGG
GCAGGGAAGACAGAAGCCAGTAAGCACATCATGCAGTACATCGCTGCTGTCACCAATCCAAGCCAGAGGGCTGAGGTGGAGAGGGTCAAGGACGTGCTGCTCAAG
TCCACCTGTGTGCTGGAGGCCTTTGGCAATGCCCGCACCAACCGCAATCACAACTCCAGCCGCTTTGGCAAGTACATGGACATCAACTTTGACTTCAAGGGGGAC
CCGATCGGAGGACACATCCACAGCTACCTACTGGAGAAGTCTCGGGTCCTCAAGCAGCACGTGGGTGAAAGAAACTTCCACGCCTTCTACCAATTGCTGAGAGGC
AGTGAGGACAAGCAGCTGCATGAACTGCACTTGGAGAGAAACCCTGCTGTATACAATTTCACACACCAGGGAGCAGGACTCAACATGACTGTGCACAGTGCCTTG
GACAGTGATGAGCAGAGCCACCAGGCAGTGACCGAGGCCATGAGGGTCATCGGCTTCAGTCCTGAAGAGGTGGAGTCTGTGCATCGCATCCTGGCTGCCATATTG
CACCTGGGAAACATCGAGTTTGTGGAGACGGAGGAGGGTGGGCTGCAGAAGGAGGGCCTGGCAGTGGCCGAGGAGGCACTGGTGGACCATGTGGCTGAGCTGACG
GCCACACCCCGGGACCTCGTGCTCCGCTCCCTGCTGGCTCGCACAGTTGCCTCGGGAGGCAGGGAACTCATAGAGAAGGGCCACACTGCAGCTGAGGCCAGCTAT
GCCCGGGATGCCTGTGCCAAGGCAGTGTACCAGCGGCTGTTTGAGTGGGTGGTGAACAGGATCAACAGTGTCATGGAACCCCGGGGCCGGGATCCTCGGCGTGAT
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ATGGAGGACGAGGAAGGCCCTGAGTATGGCAAACCTGACTTTGTGCTTTTGGACCAAGTGACCATGGAGGACTTCATGAGGAACCTGCAGCTCAGGTTCGAGAAG
GGCCGCATCTACACCTACATCGGTGAGGTGCTGGTGTCCGTGAACCCCTACCAGGAGCTGCCCCTGTATGGGCCTGAGGCCATCGCCAGGTACCAGGGCCGTGAG
CTCTATGAGCGGCCACCCCATCTCTATGCTGTGGCCAACGCCGCCTACAAGGCAATGAAGCACCGGTCCAGGGACACCTGCATCGTCATCTCAGGGGAGAGTGGG
GCAGGGAAGACAGAAGCCAGTAAGCACATCATGCAGTACATCGCTGCTGTCACCAATCCAAGCCAGAGGGCTGAGGTGGAGAGGGTCAAGGACGTGCTGCTCAAG
TCCACCTGTGTGCTGGAGGCCTTTGGCAATGCCCGCACCAACCGCAATCACAACTCCAGCCGCTTTGGCAAGTACATGGACATCAACTTTGACTTCAAGGGGGAC
CCGATCGGAGGACACATCCACAGCTACCTACTGGAGAAGTCTCGGGTCCTCAAGCAGCACGTGGGTGAAAGAAACTTCCACGCCTTCTACCAATTGCTGAGAGGC
AGTGAGGACAAGCAGCTGCATGAACTGCACTTGGAGAGAAACCCTGCTGTATACAATTTCACACACCAGGGAGCAGGACTCAACATGACTGTGCACAGTGCCTTG
GACAGTGATGAGCAGAGCCACCAGGCAGTGACCGAGGCCATGAGGGTCATCGGCTTCAGTCCTGAAGAGGTGGAGTCTGTGCATCGCATCCTGGCTGCCATATTG
CACCTGGGAAACATCGAGTTTGTGGAGACGGAGGAGGGTGGGCTGCAGAAGGAGGGCCTGGCAGTGGCCGAGGAGGCACTGGTGGACCATGTGGCTGAGCTGACG
GCCACACCCCGGGACCTCGTGCTCCGCTCCCTGCTGGCTCGCACAGTTGCCTCGGGAGGCAGGGAACTCATAGAGAAGGGCCACACTGCAGCTGAGGCCAGCTAT
GCCCGGGATGCCTGTGCCAAGGCAGTGTACCAGCGGCTGTTTGAGTGGGTGGTGAACAGGATCAACAGTGTCATGGAACCCCGGGGCCGGGATCCTCGGCGTGAT
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>MYO1G|64005|protein
MEDEEGPEYGKPDFVLLDQVTMEDFMRNLQLRFEKGRIYTYIGEVLVSVNPYQELPLYGPEAIARYQGRELYERPPHLYAVANAAYKAMKHRSRDTCIVISGESG
AGKTEASKHIMQYIAAVTNPSQRAEVERVKDVLLKSTCVLEAFGNARTNRNHNSSRFGKYMDINFDFKGDPIGGHIHSYLLEKSRVLKQHVGERNFHAFYQLLRG
SEDKQLHELHLERNPAVYNFTHQGAGLNMTVHSALDSDEQSHQAVTEAMRVIGFSPEEVESVHRILAAILHLGNIEFVETEEGGLQKEGLAVAEEALVDHVAELT
ATPRDLVLRSLLARTVASGGRELIEKGHTAAEASYARDACAKAVYQRLFEWVVNRINSVMEPRGRDPRRDGKDTVIGVLDIYGFEVFPVNSFEQFCINYCNEKLQ
QLFIQLILKQEQEEYEREGITWQSVEYFNNATIVDLVERPHRGILAVLDEACSSAGTITDRIFLQTLDMHHRHHLHYTSRQLCPTDKTMEFGRDFRIKHYAGDVT
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MEDEEGPEYGKPDFVLLDQVTMEDFMRNLQLRFEKGRIYTYIGEVLVSVNPYQELPLYGPEAIARYQGRELYERPPHLYAVANAAYKAMKHRSRDTCIVISGESG
AGKTEASKHIMQYIAAVTNPSQRAEVERVKDVLLKSTCVLEAFGNARTNRNHNSSRFGKYMDINFDFKGDPIGGHIHSYLLEKSRVLKQHVGERNFHAFYQLLRG
SEDKQLHELHLERNPAVYNFTHQGAGLNMTVHSALDSDEQSHQAVTEAMRVIGFSPEEVESVHRILAAILHLGNIEFVETEEGGLQKEGLAVAEEALVDHVAELT
ATPRDLVLRSLLARTVASGGRELIEKGHTAAEASYARDACAKAVYQRLFEWVVNRINSVMEPRGRDPRRDGKDTVIGVLDIYGFEVFPVNSFEQFCINYCNEKLQ
QLFIQLILKQEQEEYEREGITWQSVEYFNNATIVDLVERPHRGILAVLDEACSSAGTITDRIFLQTLDMHHRHHLHYTSRQLCPTDKTMEFGRDFRIKHYAGDVT
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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) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (2) | 0 (0) | 4 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Wolpert, 2001 | - | FISH | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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