Evidence Details for MYL2
Basic Information Top
| Gene Symbol: | MYL2 ( CMH10,DKFZp779C0562,MLC2 ) |
|---|---|
| Gene Full Name: | myosin, light chain 2, regulatory, cardiac, slow |
| Band: | 12q24.11 |
| Quick Links | Entrez ID:4633; OMIM: 160781; Uniprot ID:MLRV_HUMAN; ENSEMBL ID: ENSG00000111245; HGNC ID: 7583 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MYL2|4633|nucleotide
ATGGCACCTAAGAAAGCAAAGAAGAGAGCCGGGGGCGCCAACTCCAACGTGTTCTCCATGTTCGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATC
ATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTGCCCTTGGGCGAGTGAACGTGAAAAATGAAGAAATTGATGAAATGATC
AAGGAGGCTCCGGGTCCAATTAACTTTACTGTGTTCCTCACAATGTTTGGGGAGAAACTTAAGGGAGCGGACCCTGAGGAAACCATTCTCAACGCATTCAAAGTG
TTTGACCCTGAAGGCAAAGGGGTGCTGAAGGCTGATTACGTTCGGGAAATGCTGACCACGCAGGCGGAGAGGTTTTCCAAGGAGGAGGTTGACCAGATGTTCGCC
GCCTTCCCCCCTGACGTGACTGGCAACTTGGACTACAAGAACCTGGTGCACATCATCACCCACGGAGAAGAGAAGGACTAG
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ATGGCACCTAAGAAAGCAAAGAAGAGAGCCGGGGGCGCCAACTCCAACGTGTTCTCCATGTTCGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATC
ATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTGCCCTTGGGCGAGTGAACGTGAAAAATGAAGAAATTGATGAAATGATC
AAGGAGGCTCCGGGTCCAATTAACTTTACTGTGTTCCTCACAATGTTTGGGGAGAAACTTAAGGGAGCGGACCCTGAGGAAACCATTCTCAACGCATTCAAAGTG
TTTGACCCTGAAGGCAAAGGGGTGCTGAAGGCTGATTACGTTCGGGAAATGCTGACCACGCAGGCGGAGAGGTTTTCCAAGGAGGAGGTTGACCAGATGTTCGCC
GCCTTCCCCCCTGACGTGACTGGCAACTTGGACTACAAGAACCTGGTGCACATCATCACCCACGGAGAAGAGAAGGACTAG
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Evidence summary TopClick 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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| MIXED/OTHERS | |||||||||||
| Connolly S, 2017_2 | - | Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M | 2591 | - (-) |  | | ASD | - - |
- - | ||
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| 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 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.