AutismKB 2.0

Evidence Details for MYH4


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Basic Information Top
Gene Symbol:MYH4 ( MYH2B,MyHC-2B,MyHC-IIb )
Gene Full Name: myosin, heavy chain 4, skeletal muscle
Band: 17p13.1
Quick LinksEntrez ID:4622; OMIM: 160742; Uniprot ID:MYH4_HUMAN; ENSEMBL ID: ENSG00000141048; HGNC ID: 7574
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYH4|4622|nucleotide
ATGAGTTCTGACTCTGAGATGGCCATTTTTGGGGAGGCTGCTCCTTTCCTCCGAAAGTCTGAAAAGGAGCGAATTGAAGCTCAGAACAAGCCTTTTGATGCCAAG
ACATCAGTCTTTGTGGTGGACCCTAAGGAGTCCTACGTGAAAGCAATAGTGCAGAGCAGGGAAGGGGGGAAGGTGACAGCCAAGACCGAAGCTGGAGCTACTGTA
ACTGTGAAAGAAGACCAAGTCTTCTCCATGAACCCTCCCAAATATGACAAGATCGAGGACATGGCCATGATGACTCACCTGCATGAGCCTGCTGTGCTGTATAAC
CTCAAAGAGCGTTACGCAGCCTGGATGATCTACACCTACTCGGGCCTCTTCTGTGTCACCGTCAACCCCTACAAGTGGCTGCCGGTGTACAACCCTGAGGTGGTG
ACAGCCTACCGAGGCAAAAAGCGCCAGGAGGCCCCACCCCATATCTTCTCCATCTCTGACAATGCCTATCAGTTCATGCTAACTGATCGTGAAAACCAGTCAATC
TTGATTACTGGAGAATCTGGTGCAGGGAAGACTGTGAACACGAAGCGTGTCATCCAGTACTTTGCAACAATTGCAGTTACTGGAGAGAAGAAAAAAGAGGAACCT
GCCTCTGGCAAAATGCAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCT
CGCTTTGGTAAATTCATCAGGATCCATTTTGGTGCCACAGGCAAACTGGCTTCTGCAGATATTGAAACATATCTGCTAGAGAAGTCCCGAGTTACTTTTCAGCTA
AAGGCTGAAAGAAGCTACCACATATTTTATCAAATCCTGTCCAATAAGAAACCAGAGCTCATTGAAATGCTTCTGATCACCACCAACCCATATGACTTCGCATTT
GTCAGCCAAGGGGAAATTACTGTGCCCAGCATTGATGACCAGGAAGAGCTGATGGCCACAGATAGTGCTGTGGACATCCTGGGTTTCACTGCTGATGAAAAGGTG
GCCATTTACAAGCTCACTGGAGCCGTGATGCATTATGGGAACATGAAATTCAAGCAAAAGCAAAGGGAAGAGCAGGCAGAGCCAGATGGCACGGAAGTTGCTGAC
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>MYH4|4622|protein
MSSDSEMAIFGEAAPFLRKSEKERIEAQNKPFDAKTSVFVVDPKESYVKAIVQSREGGKVTAKTEAGATVTVKEDQVFSMNPPKYDKIEDMAMMTHLHEPAVLYN
LKERYAAWMIYTYSGLFCVTVNPYKWLPVYNPEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEP
ASGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVTFQLKAERSYHIFYQILSNKKPELIEMLLITTNPYDFAF
VSQGEITVPSIDDQEELMATDSAVDILGFTADEKVAIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLTSLNSADLLKSLCYPRVKVGNEFVTKGQTV
QQVYNAVGALAKAIYEKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWEFIDFGMDLAACIE
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Evidence summary Top

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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 (2) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top