AutismKB 2.0

Evidence Details for MYO5C


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Basic Information Top
Gene Symbol:MYO5C ( MGC74969 )
Gene Full Name: myosin VC
Band: 15q21.2
Quick LinksEntrez ID:55930; OMIM: 610022; Uniprot ID:MYO5C_HUMAN; ENSEMBL ID: ENSG00000128833; HGNC ID: 7604
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO5C|55930|nucleotide
ATGGCGGTGGCCGAGCTGTACACGCAGTACAACAGGGTCTGGATTCCCGATCCTGAAGAAGTTTGGAAGTCTGCTGAAATAGCCAAGGACTACAGAGTTGGTGAC
AAGGTCCTGCGACTCCTGCTGGAGGATGGAACGGAGCTGGATTATTCTGTCAATCCAGAATCTCTGCCTCCACTTCGGAATCCTGACATCCTCGTGGGCGAGAAT
GACCTCACGGCTCTCAGCTATCTTCACGAGCCCGCGGTGCTCCACAACCTCAGAATCCGCTTTGCAGAATCCAAACTCATTTACACCTACAGTGGAATCATTTTG
GTGGCCATGAATCCTTACAAGCAGTTGCCAATATACGGAGATGCCATCATCCACGCCTACAGCGGGCAGAACATGGGCGATATGGACCCACACATATTTGCCGTG
GCAGAAGAGGCATACAAGCAGATGGCCAGAAACAACAGAAACCAGTCCATAATTGTAAGTGGGGAGTCAGGTGCTGGAAAGACAGTGTCGGCTCGCTATGCCATG
AGGTACTTTGCCACCGTCAGCAAATCGGGCAGCAACGCTCACGTGGAAGACAAGGTCCTGGCATCCAATCCCATCACCGAGGCCGTTGGAAATGCCAAGACCACC
CGCAATGACAATAGTAGTCGGTTTGGGAAATACACAGAAATCAGTTTTGATGAACAAAATCAAATTATAGGAGCCAACATGAGCACTTACCTCCTGGAGAAATCC
AGAGTTGTCTTTCAATCGGAAAATGAACGAAATTACCACATTTTCTATCAGCTTTGTGCATCTGCACAGCAGTCGGAATTTAAACATCTTAAATTGGGGAGTGCC
GAAGAATTTAATTATACAAGAATGGGAGGCAATACTGTCATTGAGGGTGTGAATGATCGAGCTGAAATGGTAGAGACTCAAAAGACCTTCACGCTTCTGGGTTTC
AAGGAGGATTTTCAGATGGACGTTTTTAAAATCCTGGCAGCCATCCTACATCTGGGCAATGTGCAGATCACCGCGGTGGGCAACGAGAGGTCCTCAGTTAGTGAG
GATGACAGTCACCTGAAGGTGTTCTGTGAGCTCCTGGGCCTGGAGAGTGGCAGAGTTGCTCAGTGGCTGTGCAATCGCAAAATCGTCACAAGCTCTGAGACGGTG
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>MYO5C|55930|protein
MAVAELYTQYNRVWIPDPEEVWKSAEIAKDYRVGDKVLRLLLEDGTELDYSVNPESLPPLRNPDILVGENDLTALSYLHEPAVLHNLRIRFAESKLIYTYSGIIL
VAMNPYKQLPIYGDAIIHAYSGQNMGDMDPHIFAVAEEAYKQMARNNRNQSIIVSGESGAGKTVSARYAMRYFATVSKSGSNAHVEDKVLASNPITEAVGNAKTT
RNDNSSRFGKYTEISFDEQNQIIGANMSTYLLEKSRVVFQSENERNYHIFYQLCASAQQSEFKHLKLGSAEEFNYTRMGGNTVIEGVNDRAEMVETQKTFTLLGF
KEDFQMDVFKILAAILHLGNVQITAVGNERSSVSEDDSHLKVFCELLGLESGRVAQWLCNRKIVTSSETVVKPMTRPQAVNARDALAKKIYAHLFDFIVERINQA
LQFSGKQHTFIGVLDIYGFETFDVNSFEQFCINYANEKLQQQFNMHVFKLEQEEYMKEDIPWTLIDFYDNQPVIDLIEAKMGILELLDEECLLPHGTDENWLQKL
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top