Evidence Details for MYO1A


Gene Symbol: | MYO1A ( BBMI,DFNA48,MIHC,MYHL ) |
---|---|
Gene Full Name: | myosin IA |
Band: | 12q13.3 |
Quick Links | Entrez ID:4640; OMIM: 601478; Uniprot ID:MYO1A_HUMAN; ENSEMBL ID: ENSG00000166866; HGNC ID: 7595 |
Relate to Another Database: | SFARIGene; denovo-db |


>MYO1A|4640|nucleotide
ATGCCTCTCCTGGAAGGTTCTGTGGGGGTGGAGGATCTTGTCCTCCTGGAACCCTTGGTGGAGGAGTCACTGCTCAAGAATCTTCAGCTTCGCTATGAAAACAAG
GAGATTTATACCTACATTGGGAATGTGGTGATCTCAGTGAATCCCTATCAACAGCTTCCCATCTATGGGCCAGAGTTCATTGCCAAATATCAAGACTATACTTTC
TATGAGCTGAAGCCCCATATCTACGCATTGGCAAATGTGGCGTACCAGTCACTGAGGGACAGGGACCGAGACCAGTGTATCCTCATCACAGGCGAGAGTGGATCA
GGGAAGACTGAGGCCAGCAAGCTGGTGATGTCTTATGTGGCTGCCGTCTGTGGGAAAGGAGAGCAGGTGAACTCTGTGAAGGAGCAGCTGCTACAGTCTAACCCA
GTGCTGGAGGCTTTTGGCAATGCCAAGACCATTCGCAACAACAATTCCTCCCGATTTGGAAAATACATGGATATTGAATTTGACTTCAAGGGATCCCCCCTCGGT
GGTGTCATCACAAACTATCTGCTTGAGAAATCCCGATTAGTGAAGCAGCTCAAAGGAGAAAGGAACTTCCACATCTTCTATCAGCTGCTGGCTGGAGCAGATGAA
CAGCTGCTGAAGGCCCTGAAGCTTGAGCGGGATACAACTGGCTATGCCTATCTGAATCATGAAGTATCCAGAGTGGATGGCATGGACGACGCCTCCAGCTTCAGG
GCTGTACAGAGTGCAATGGCAGTGATTGGGTTCTCGGAGGAGGAGATTCGACAAGTGCTAGAGGTGACATCCATGGTGCTAAAGCTGGGGAACGTGTTGGTGGCT
GATGAGTTCCAGGCCAGTGGGATACCAGCAAGTGGCATCCGTGATGGGAGAGGTGTTCGGGAGATTGGGGAGATGGTGGGCTTGAATTCAGAAGAAGTAGAGAGA
GCTTTGTGCTCGAGGACCATGGAAACAGCCAAGGAAAAGGTGGTCACTGCACTGAATGTTATGCAGGCTCAGTATGCTCGGGACGCCCTGGCTAAGAACATCTAC
AGCCGCCTCTTTGACTGGATAGTGAATCGAATCAATGAGAGCATCAAGGTGGGCATCGGGGAAAAGAAGAAGGTAATGGGAGTCCTTGATATCTACGGTTTTGAG
Show »
ATGCCTCTCCTGGAAGGTTCTGTGGGGGTGGAGGATCTTGTCCTCCTGGAACCCTTGGTGGAGGAGTCACTGCTCAAGAATCTTCAGCTTCGCTATGAAAACAAG
GAGATTTATACCTACATTGGGAATGTGGTGATCTCAGTGAATCCCTATCAACAGCTTCCCATCTATGGGCCAGAGTTCATTGCCAAATATCAAGACTATACTTTC
TATGAGCTGAAGCCCCATATCTACGCATTGGCAAATGTGGCGTACCAGTCACTGAGGGACAGGGACCGAGACCAGTGTATCCTCATCACAGGCGAGAGTGGATCA
GGGAAGACTGAGGCCAGCAAGCTGGTGATGTCTTATGTGGCTGCCGTCTGTGGGAAAGGAGAGCAGGTGAACTCTGTGAAGGAGCAGCTGCTACAGTCTAACCCA
GTGCTGGAGGCTTTTGGCAATGCCAAGACCATTCGCAACAACAATTCCTCCCGATTTGGAAAATACATGGATATTGAATTTGACTTCAAGGGATCCCCCCTCGGT
GGTGTCATCACAAACTATCTGCTTGAGAAATCCCGATTAGTGAAGCAGCTCAAAGGAGAAAGGAACTTCCACATCTTCTATCAGCTGCTGGCTGGAGCAGATGAA
CAGCTGCTGAAGGCCCTGAAGCTTGAGCGGGATACAACTGGCTATGCCTATCTGAATCATGAAGTATCCAGAGTGGATGGCATGGACGACGCCTCCAGCTTCAGG
GCTGTACAGAGTGCAATGGCAGTGATTGGGTTCTCGGAGGAGGAGATTCGACAAGTGCTAGAGGTGACATCCATGGTGCTAAAGCTGGGGAACGTGTTGGTGGCT
GATGAGTTCCAGGCCAGTGGGATACCAGCAAGTGGCATCCGTGATGGGAGAGGTGTTCGGGAGATTGGGGAGATGGTGGGCTTGAATTCAGAAGAAGTAGAGAGA
GCTTTGTGCTCGAGGACCATGGAAACAGCCAAGGAAAAGGTGGTCACTGCACTGAATGTTATGCAGGCTCAGTATGCTCGGGACGCCCTGGCTAAGAACATCTAC
AGCCGCCTCTTTGACTGGATAGTGAATCGAATCAATGAGAGCATCAAGGTGGGCATCGGGGAAAAGAAGAAGGTAATGGGAGTCCTTGATATCTACGGTTTTGAG
Show »
>MYO1A|4640|protein
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGS
GKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADE
QLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVER
ALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEY
KREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNND
Show »
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGS
GKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADE
QLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVER
ALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEY
KREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNND
Show »


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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (5) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |
Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |








Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
O'Roak BJ, 2011 | - | 20 | 21 | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. |




Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |


Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.