AutismKB 2.0

Evidence Details for MYOM2


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Basic Information Top
Gene Symbol:MYOM2 ( TTNAP )
Gene Full Name: myomesin (M-protein) 2, 165kDa
Band: 8p23.3
Quick LinksEntrez ID:9172; OMIM: 603509; Uniprot ID:MYOM2_HUMAN; ENSEMBL ID: ENSG00000036448; HGNC ID: 7614
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYOM2|9172|nucleotide
ATGTCCCTTGTGACTGTCCCCTTCTACCAGAAGAGACATAGGCACTTCGACCAGTCCTACCGTAATATTCAAACACGGTACCTGCTGGACGAATATGCGTCAAAA
AAGCGAGCTTCCACCCAGGCATCTTCCCAGAAGTCCTTGAGTCAGCGGTCGTCTTCACAGAGAGCCTCCAGCCAGACGTCCCTGGGAGGAACCATCTGCAGGGTC
TGTGCGAAGCGAGTGAGCACGCAGGAAGATGAGGAGCAGGAGAACAGAAGCAGGTACCAGTCCCTGGTGGCCGCCTATGGTGAGGCCAAGCGACAGCGCTTCCTC
AGCGAGCTGGCCCACTTGGAGGAGGATGTCCACCTGGCACGCTCCCAGGCCCGCGACAAGCTGGACAAATACGCCATTCAGCAGATGATGGAGGACAAGCTGGCC
TGGGAGAGACACACATTTGAAGAGCGGATAAGCAGGGCTCCTGAGATCCTGGTGCGGCTGCGATCCCACACCGTCTGGGAGAGGATGTCTGTGAAACTCTGCTTC
ACCGTGCAAGGATTTCCCACGCCCGTGGTGCAGTGGTACAAAGATGGCAGTCTGATTTGCCAGGCGGCTGAACCGGGAAAGTACAGGATTGAGAGCAACTATGGC
GTACACACACTGGAGATCAACAGGGCAGACTTTGACGACACTGCGACATACTCAGCAGTGGCCACCAATGCCCACGGACAAGTGTCCACCAACGCGGCGGTGGTG
GTGAGAAGGTTCCGGGGAGACGAGGAACCATTCCGTTCGGTGGGACTCCCGATTGGATTGCCCCTGTCATCGATGATTCCGTACACGCACTTCGACGTCCAGTTT
TTGGAGAAGTTTGGGGTCACCTTCAGGAGGGAAGGCGAGACGGTCACTCTCAAGTGCACCATGCTGGTGACGCCGGACCTGAAGCGGGTGCAGCCGCGCGCCGAG
TGGTACCGCGATGACGTGCTGTTGAAAGAGTCCAAGTGGACGAAGATGTTCTTTGGAGAAGGCCAGGCCTCCCTGTCCTTCAGCCACCTGCACAAGGACGACGAG
GGCCTGTACACCCTGCGCATCGTGTCTCGGGGCGGCGTCAGCGACCACAGCGCCTTCCTGTTTGTCAGAGATGCTGACCCGCTGGTCACAGGGGCCCCCGGTGCA
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>MYOM2|9172|protein
MSLVTVPFYQKRHRHFDQSYRNIQTRYLLDEYASKKRASTQASSQKSLSQRSSSQRASSQTSLGGTICRVCAKRVSTQEDEEQENRSRYQSLVAAYGEAKRQRFL
SELAHLEEDVHLARSQARDKLDKYAIQQMMEDKLAWERHTFEERISRAPEILVRLRSHTVWERMSVKLCFTVQGFPTPVVQWYKDGSLICQAAEPGKYRIESNYG
VHTLEINRADFDDTATYSAVATNAHGQVSTNAAVVVRRFRGDEEPFRSVGLPIGLPLSSMIPYTHFDVQFLEKFGVTFRREGETVTLKCTMLVTPDLKRVQPRAE
WYRDDVLLKESKWTKMFFGEGQASLSFSHLHKDDEGLYTLRIVSRGGVSDHSAFLFVRDADPLVTGAPGAPMDLQCHDANRDYVIVTWKPPNTTTESPVMGYFVD
RCEVGTNNWVQCNDAPVKICKYPVTGLFEGRSYIFRVRAVNSAGISRPSRVSDAVAALDPLDLRRLQAVHLEGEKEIAIYQDDLEGDAQVPGPPTGVHASEISRN
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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) 1 (5) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (1) 0 (0) 3 (9)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top