Evidence Details for MYH14
Basic Information Top
| Gene Symbol: | MYH14 ( DFNA4,DKFZp667A1311,FLJ13881,FLJ43092,KIAA2034,MHC16,MYH17,NMHC-II-C,myosin ) |
|---|---|
| Gene Full Name: | myosin, heavy chain 14, non-muscle |
| Band: | 19q13.33 |
| Quick Links | Entrez ID:79784; OMIM: 608568; Uniprot ID:MYH14_HUMAN; ENSEMBL ID: ENSG00000105357; HGNC ID: 23212 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MYH14|79784|nucleotide
ATGGCAGCCGTGACCATGTCGGTGCCCGGGCGGAAGGCGCCCCCCAGGCCGGGCCCAGTGCCCGAGGCGGCCCAGCCGTTCCTGTTCACGCCCCGCGGGCCCAGC
GCGGGTGGCGGGCCTGGCTCGGGCACCTCCCCGCAGGTGGAGTGGACGGCCCGGCGTCTCGTGTGGGTGCCTTCGGAGCTTCACGGGTTCGAGGCGGCGGCGCTG
CGGGACGAAGGCGAGGAGGAGGCGGAGGTGGAGCTGGCGGAGAGCGGGAGGCGGCTGCGACTGCCGCGGGACCAGATCCAGCGCATGAACCCGCCCAAGTTCAGC
AAGGCCGAGGACATGGCCGAGCTGACCTGCCTCAACGAGGCCTCGGTCCTGCACAACCTCCGGGAGCGGTACTACTCCGGCCTCATCTACACGTACTCCGGCCTT
TTCTGTGTGGTCATCAACCCGTACAAGCAGCTTCCCATCTACACAGAAGCCATTGTGGAGATGTACCGGGGCAAGAAGCGCCACGAGGTGCCACCCCACGTGTAC
GCAGTGACCGAGGGGGCCTATCGGAGCATGCTGCAGGATCGTGAGGACCAGTCCATTCTCTGCACTGGAGAGTCTGGAGCTGGGAAGACGGAAAACACCAAGAAG
GTCATCCAGTACCTCGCCCACGTGGCGTCGTCTCCAAAGGGCAGGAAGGAGCCGGGTGTCCCCGCCTCCGTCAGCACCGTGTCTTATGGTGAGCTGGAGCGGCAG
CTGCTTCAGGCCAACCCCATCCTAGAGGCCTTTGGCAATGCCAAGACAGTGAAGAATGACAACTCCTCCCGATTCGGCAAATTCATCCGCATCAACTTTGATGTT
GCCGGGTACATCGTGGGCGCCAACATTGAGACCTACCTGCTGGAGAAGTCGCGGGCCATCCGCCAGGCCAAGGACGAGTGCAGCTTCCACATCTTCTACCAGCTG
CTGGGGGGCGCTGGAGAGCAGCTCAAAGCCGACCTCCTCCTCGAGCCCTGCTCCCACTACCGGTTCCTGACCAACGGGCCGTCATCCTCTCCCGGCCAGGAGCGG
GAACTCTTCCAGGAGACGCTGGAGTCGCTGCGGGTCCTGGGATTCAGCCACGAGGAAATCATCTCCATGCTGCGGATGGTCTCAGCAGTTCTCCAGTTTGGCAAC
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ATGGCAGCCGTGACCATGTCGGTGCCCGGGCGGAAGGCGCCCCCCAGGCCGGGCCCAGTGCCCGAGGCGGCCCAGCCGTTCCTGTTCACGCCCCGCGGGCCCAGC
GCGGGTGGCGGGCCTGGCTCGGGCACCTCCCCGCAGGTGGAGTGGACGGCCCGGCGTCTCGTGTGGGTGCCTTCGGAGCTTCACGGGTTCGAGGCGGCGGCGCTG
CGGGACGAAGGCGAGGAGGAGGCGGAGGTGGAGCTGGCGGAGAGCGGGAGGCGGCTGCGACTGCCGCGGGACCAGATCCAGCGCATGAACCCGCCCAAGTTCAGC
AAGGCCGAGGACATGGCCGAGCTGACCTGCCTCAACGAGGCCTCGGTCCTGCACAACCTCCGGGAGCGGTACTACTCCGGCCTCATCTACACGTACTCCGGCCTT
TTCTGTGTGGTCATCAACCCGTACAAGCAGCTTCCCATCTACACAGAAGCCATTGTGGAGATGTACCGGGGCAAGAAGCGCCACGAGGTGCCACCCCACGTGTAC
GCAGTGACCGAGGGGGCCTATCGGAGCATGCTGCAGGATCGTGAGGACCAGTCCATTCTCTGCACTGGAGAGTCTGGAGCTGGGAAGACGGAAAACACCAAGAAG
GTCATCCAGTACCTCGCCCACGTGGCGTCGTCTCCAAAGGGCAGGAAGGAGCCGGGTGTCCCCGCCTCCGTCAGCACCGTGTCTTATGGTGAGCTGGAGCGGCAG
CTGCTTCAGGCCAACCCCATCCTAGAGGCCTTTGGCAATGCCAAGACAGTGAAGAATGACAACTCCTCCCGATTCGGCAAATTCATCCGCATCAACTTTGATGTT
GCCGGGTACATCGTGGGCGCCAACATTGAGACCTACCTGCTGGAGAAGTCGCGGGCCATCCGCCAGGCCAAGGACGAGTGCAGCTTCCACATCTTCTACCAGCTG
CTGGGGGGCGCTGGAGAGCAGCTCAAAGCCGACCTCCTCCTCGAGCCCTGCTCCCACTACCGGTTCCTGACCAACGGGCCGTCATCCTCTCCCGGCCAGGAGCGG
GAACTCTTCCAGGAGACGCTGGAGTCGCTGCGGGTCCTGGGATTCAGCCACGAGGAAATCATCTCCATGCTGCGGATGGTCTCAGCAGTTCTCCAGTTTGGCAAC
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>MYH14|79784|protein
MAAVTMSVPGRKAPPRPGPVPEAAQPFLFTPRGPSAGGGPGSGTSPQVEWTARRLVWVPSELHGFEAAALRDEGEEEAEVELAESGRRLRLPRDQIQRMNPPKFS
KAEDMAELTCLNEASVLHNLRERYYSGLIYTYSGLFCVVINPYKQLPIYTEAIVEMYRGKKRHEVPPHVYAVTEGAYRSMLQDREDQSILCTGESGAGKTENTKK
VIQYLAHVASSPKGRKEPGVPASVSTVSYGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVAGYIVGANIETYLLEKSRAIRQAKDECSFHIFYQL
LGGAGEQLKADLLLEPCSHYRFLTNGPSSSPGQERELFQETLESLRVLGFSHEEIISMLRMVSAVLQFGNIALKRERNTDQATMPDNTAAQKLCRLLGLGVTDFS
RALLTPRIKVGRDYVQKAQTKEQADFALEALAKATYERLFRWLVLRLNRALDRSPRQGASFLGILDIAGFEIFQLNSFEQLCINYTNEKLQQLFNHTMFVLEQEE
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MAAVTMSVPGRKAPPRPGPVPEAAQPFLFTPRGPSAGGGPGSGTSPQVEWTARRLVWVPSELHGFEAAALRDEGEEEAEVELAESGRRLRLPRDQIQRMNPPKFS
KAEDMAELTCLNEASVLHNLRERYYSGLIYTYSGLFCVVINPYKQLPIYTEAIVEMYRGKKRHEVPPHVYAVTEGAYRSMLQDREDQSILCTGESGAGKTENTKK
VIQYLAHVASSPKGRKEPGVPASVSTVSYGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVAGYIVGANIETYLLEKSRAIRQAKDECSFHIFYQL
LGGAGEQLKADLLLEPCSHYRFLTNGPSSSPGQERELFQETLESLRVLGFSHEEIISMLRMVSAVLQFGNIALKRERNTDQATMPDNTAAQKLCRLLGLGVTDFS
RALLTPRIKVGRDYVQKAQTKEQADFALEALAKATYERLFRWLVLRLNRALDRSPRQGASFLGILDIAGFEIFQLNSFEQLCINYTNEKLQQLFNHTMFVLEQEE
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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 | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 2 (4) | 1 (1) | 0 (0) | 13 (8) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) | | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Yuen RK, 2015 | - | Complete Genomics | | | ASD | 85 | - | 85 | 170 | Sanger sequencing |
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.