AutismKB 2.0

Evidence Details for MAK


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Basic Information Top
Gene Symbol:MAK ( dJ417M14.2 )
Gene Full Name: male germ cell-associated kinase
Band: 6p24.2
Quick LinksEntrez ID:4117; OMIM: 154235; Uniprot ID:MAK_HUMAN; ENSEMBL ID: ENSG00000111837; HGNC ID: 6816
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAK|4117|nucleotide
ATGAACCGATACACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATGGGCAAGAGTAATGAATCCGGGGAGCTGGTGGCCATCAAAAGGATG
AAGAGAAAGTTCTATTCTTGGGATGAATGCATGAACTTGAGAGAAGTTAAGTCTCTGAAGAAACTTAATCATGCCAATGTTATTAAATTGAAAGAAGTTATCAGA
GAAAATGACCATCTTTATTTTATATTTGAATATATGAAAGAAAACCTCTATCAATTAATGAAAGACAGAAACAAGTTGTTCCCTGAATCAGTCATCAGAAATATT
ATGTATCAAATATTGCAAGGGCTGGCTTTTATCCATAAACATGGCTTTTTTCATAGGGACATGAAACCAGAAAACTTGCTTTGTATGGGTCCAGAGCTTGTGAAA
ATTGCTGATTTTGGACTTGCAAGAGAATTAAGGTCACAGCCACCATACACTGATTATGTATCTACCAGATGGTATCGTGCCCCTGAAGTTTTACTGAGATCTTCA
GTTTATAGTTCTCCCATTGATGTGTGGGCTGTTGGAAGTATCATGGCTGAACTCTATATGTTAAGGCCACTTTTCCCAGGGACAAGTGAGGTCGATGAAATCTTT
AAAATTTGCCAAGTTTTAGGGACTCCCAAAAAAAGTGACTGGCCAGAAGGATACCAGCTGGCATCCTCTATGAACTTCCGTTTTCCCCAGTGTGTTCCTATAAAC
TTAAAAACTCTTATTCCCAATGCCAGTAATGAAGCTATTCAGCTCATGACCGAAATGTTGAATTGGGATCCAAAGAAACGACCGACAGCAAGCCAGGCATTGAAA
CACCCATATTTTCAAGTTGGTCAGGTATTAGGCCCTTCGTCAAATCATCTGGAATCAAAACAGTCTTTAAATAAGCAGCTGCAACCATTAGAATCAAAGCCATCT
TTAGTTGAGGTAGAGCCTAAGCCTCTGCCGGATATAATCGATCAGGTTGTTGGACAACCCCAGCCAAAAACTAGCCAGCAGCCACTGCAGCCCATTCAGCCGCCA
CAGAACCTGAGCGTCCAGCAACCTCCAAAGCAACAGAGTCAGGAGAAACCGCCACAAACGCTATTCCCGAGCATCGTCAAAAACATGCCAACTAAGCCAAATGGC
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>MAK|4117|protein
MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDECMNLREVKSLKKLNHANVIKLKEVIRENDHLYFIFEYMKENLYQLMKDRNKLFPESVIRNI
MYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVKIADFGLARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSPIDVWAVGSIMAELYMLRPLFPGTSEVDEIF
KICQVLGTPKKSDWPEGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPKKRPTASQALKHPYFQVGQVLGPSSNHLESKQSLNKQLQPLESKPS
LVEVEPKPLPDIIDQVVGQPQPKTSQQPLQPIQPPQNLSVQQPPKQQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSGRRRWGQTIFKSGDSWEELEDYDFGASHS
KKPSMGVFKEKRKKDSPFRLPEPVPSGSNHSTGENKSLPAVTSLKSDSELSTAPTSKQYYLKQSRYLPGVNPKKVSLIASGKEINPHTWSNQLFPKSLGPVGAEL
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top