AutismKB 2.0

Evidence Details for MVK


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Basic Information Top
Gene Symbol:MVK ( FLJ96772,LRBP,MK,MVLK )
Gene Full Name: mevalonate kinase
Band: 12q24.11
Quick LinksEntrez ID:4598; OMIM: 251170; Uniprot ID:KIME_HUMAN; ENSEMBL ID: ENSG00000110921; HGNC ID: 7530
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MVK|4598|nucleotide
ATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCAAGGTAGCACTGGCTGTATCCTTGAACTTG
AGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTG
GACACAAGCTTTCTGGAGCAAGGTGATGTCACAACACCCACCTCAGAGCAAGTGGAGAAGCTAAAGGAGGTTGCAGGCTTGCCTGACGACTGTGCTGTCACCGAG
CGCCTGGCTGTGCTGGCCTTTCTTTACTTATACCTGTCCATCTGCCGGAAGCAGAGGGCCCTGCCGAGCCTGGATATCGTAGTGTGGTCGGAGCTGCCCCCCGGG
GCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCTGGCAGCAGCCCTCCTGACTGTGTGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAAC
AGGTGGACCAAGGAGGATTTGGAGCTAATTAACAAGTGGGCCTTCCAAGGGGAGAGAATGATTCACGGGAACCCCTCCGGAGTGGACAATGCTGTCAGCACCTGG
GGAGGAGCCCTCCGATACCATCAAGGGAAGATTTCATCCTTAAAGAGGTCGCCAGCTCTCCAGATCCTGCTGACCAACACCAAAGTCCCTCGCAATACCAGGGCC
CTTGTGGCTGGCGTCAGAAACAGGCTGCTCAAGTTCCCAGAGATCGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCCCTGGAGTGTGAGCGCGTGCTGGGA
GAGATGGGGGAAGCCCCAGCCCCGGAGCAGTACCTCGTGCTGGAAGAGCTCATTGACATGAACCAGCACCATCTGAATGCCCTCGGCGTGGGCCACGCCTCTCTG
GACCAGCTCTGCCAGGTGACCAGGGCCCGCGGACTTCACAGCAAGCTGACTGGCGCAGGCGGTGGTGGCTGTGGCATCACACTCCTCAAGCCAGGGCTGGAGCAG
CCAGAAGTGGAGGCCACGAAGCAGGCCCTGACCAGCTGTGGCTTTGACTGCTTGGAAACCAGCATCGGTGCCCCCGGCGTCTCCATCCACTCAGCCACCTCCCTG
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>MVK|4598|protein
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTE
RLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTW
GGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASL
DQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL

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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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