AutismKB 2.0

Evidence Details for ALPK3


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Basic Information Top
Gene Symbol:ALPK3 ( FLJ12881,FLJ21176,KIAA1330,MAK,MIDORI )
Gene Full Name: alpha-kinase 3
Band: 15q25.3
Quick LinksEntrez ID:57538; OMIM: NA; Uniprot ID:ALPK3_HUMAN; ENSEMBL ID: ENSG00000136383; HGNC ID: 17574
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALPK3|57538|nucleotide
ATGGAGGTGGCTTGGCTTGTCTATGTGCTGGGCCAACAGCCACTGGCGAGGCAAGGCGAGGGTCAGTCACGGCTGGTGCCAGGAAGAGGGCTGGTTCTTTGGCTC
CCTGGTCTCCCGCGGTCTAGCCCAAGCTGGCCAGCGGTTGACCTGGCTCCCCTGGCCCCGGCCAGGCCTCGTGGACCCCTCATATGCCACACGGGACATGAGCAG
GCCGGCCGGGAGCCGGGTCCCGGGAGCTCCACGAAGGGGCCTGTCCTCCATGACCAGGACACCCGCTGCGCCTTCCTCCCGAGGCCTCCCGGGCCTCTCCAGACG
CGGCGCTACTGCAGACACCAGGGCCGCCAAGGGAGCGGACTCGGAGCCGGCCCTGGGGCGGGCACATGGGCCCCGGCGCCCCCCGGCGTCTCCAAGCCGCGCTGC
CCGGGTCGGGCCAGGCCAGGGGAGGGACAGCAGCAGGTGACGACGGCCCGGCCACCGGCTATAAATAGGGGCGCGCGTCAGCCGCGGGCGGGAGCGGCGGCGGCG
GGCAGGGGCCCGGGGGCCGGGGCCTGGAGGACAGGCGAGGCAGCGGCGAGTGCGGGGCCGGCGGTCGGGGAGGGCGGTGCCATGGGGTCGCGGAGGGCCCCCAGC
CGGGGCTGGGGCGCGGGTGGGCGGTCGGGGGCGGGGGGCGACGGTGAGGACGACGGCCCCGTGTGGATCCCCAGCCCAGCCAGCCGGAGCTACCTGCTCAGCGTG
CGGCCCGAGACCAGCTTATCAAGCAACCGGTTGTCTCACCCCAGCTCTGGAAGGAGCACCTTCTGCTCCATCATTGCTCAGCTCACAGAGGAGACCCAGCCGCTA
TTTGAGACCACGCTCAAGTCCCGGTCTGTGTCCGAGGACAGCGACGTCAGGTTCACCTGCATCGTCACAGGATACCCAGAGCCAGAGGTGACCTGGTACAAGGAT
GATACGGAGCTGGACCGCTACTGTGGCTTGCCAAAATATGAGATCACTCATCAGGGCAACCGCCACACACTGCAGCTGTACAGGTGTCGAGAAGAAGATGCCGCC
ATCTACCAGGCCTCTGCCCAGAACAGCAAGGGCATTGTGTCCTGCTCAGGGGTCCTGGAGGTGGGCACCATGACTGAGTACAAGATCCACCAGCGCTGGTTCGCC
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>ALPK3|57538|protein
MEVAWLVYVLGQQPLARQGEGQSRLVPGRGLVLWLPGLPRSSPSWPAVDLAPLAPARPRGPLICHTGHEQAGREPGPGSSTKGPVLHDQDTRCAFLPRPPGPLQT
RRYCRHQGRQGSGLGAGPGAGTWAPAPPGVSKPRCPGRARPGEGQQQVTTARPPAINRGARQPRAGAAAAGRGPGAGAWRTGEAAASAGPAVGEGGAMGSRRAPS
RGWGAGGRSGAGGDGEDDGPVWIPSPASRSYLLSVRPETSLSSNRLSHPSSGRSTFCSIIAQLTEETQPLFETTLKSRSVSEDSDVRFTCIVTGYPEPEVTWYKD
DTELDRYCGLPKYEITHQGNRHTLQLYRCREEDAAIYQASAQNSKGIVSCSGVLEVGTMTEYKIHQRWFAKLKRKAAAKLREIEQSWKHEKAVPGEVDTLRKLSP
DRFQRKRRLSGAQAPGPSVPTREPEGGTLAAWQEGETETAQHSGLGLINSFASGEVTTNGEAAPENGEDGEHGLLTYICDAMELGPQRALKEESGAKKKKKDEES
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top