AutismKB 2.0

Evidence Details for LRRK1


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Basic Information Top
Gene Symbol:LRRK1 ( FLJ23119,FLJ27465,KIAA1790,RIPK6,Roco1 )
Gene Full Name: leucine-rich repeat kinase 1
Band: 15q26.3
Quick LinksEntrez ID:79705; OMIM: 610986; Uniprot ID:LRRK1_HUMAN; ENSEMBL ID: ENSG00000154237; HGNC ID: 18608
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRK1|79705|nucleotide
ATGGCTGGCATGTCGCAAAGACCCCCCAGCATGTACTGGTGTGTGGGGCCGGAGGAGTCAGCTGTGTGTCCAGAACGTGCCATGGAGACGCTTAACGGTGCCGGG
GACACGGGCGGCAAGCCGTCCACGCGGGGCGGTGACCCTGCAGCGCGGTCCCGCAGGACGGAAGGCATCCGCGCCGCGTACAGGCGGGGAGACCGCGGCGGCGCC
CGGGACCTGCTGGAGGAGGCCTGCGACCAGTGCGCGTCCCAGCTGGAAAAGGGCCAGCTTCTGAGCATCCCGGCAGCCTATGGGGATCTGGAGATGGTCCGCTAC
CTACTCAGCAAGAGACTGGTGGAGCTGCCCACCGAGCCCACGGATGACAACCCAGCCGTGGTGGCAGCGTATTTTGGACACACGGCAGTTGTGCAGGAATTGCTT
GAGTCCTTACCAGGTCCCTGCAGTCCCCAGCGGCTTCTGAACTGGATGCTGGCCTTGGCTTGCCAGCGAGGGCACCTGGGGGTTGTGAAGCTCCTGGTCCTGACG
CACGGGGCTGACCCGGAGAGCTACGCTGTCAGGAAGAATGAGTTCCCTGTCATCGTGCGCTTGCCCCTGTATGCGGCCATCAAGTCAGGGAATGAAGACATTGCA
ATATTCCTGCTTCGGCATGGGGCCTATTTCTGTTCCTACATCTTGCTGGATAGTCCTGACCCCAGCAAACATCTGCTGAGAAAGTACTTCATTGAAGCCAGTCCC
TTGCCCAGCAGTTATCCGGGAAAAACAGCTCTCCGTGTGAAATGGTCCCATCTCAGACTGCCCTGGGTAGACCTAGACTGGCTCATAGACATCTCCTGCCAGATC
ACGGAGCTCGACCTTTCTGCCAACTGCCTGGCGACCCTCCCCTCGGTTATCCCCTGGGGCCTCATCAATCTCCGGAAGCTGAACCTCTCCGACAACCACCTGGGG
GAGCTGCCTGGCGTGCAGTCATCGGACGAAATCATCTGTTCCAGGCTACTTGAAATTGACATTTCCAGCAACAAGTTGTCCCACCTCCCTCCTGGATTCTTGCAC
CTCTCAAAACTTCAAAAACTGACAGCTTCAAAAAATTGTTTAGAAAAATTGTTCGAAGAAGAAAATGCCACTAACTGGATAGGTTTACGGAAGCTACAGGAACTT
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>LRRK1|79705|protein
MAGMSQRPPSMYWCVGPEESAVCPERAMETLNGAGDTGGKPSTRGGDPAARSRRTEGIRAAYRRGDRGGARDLLEEACDQCASQLEKGQLLSIPAAYGDLEMVRY
LLSKRLVELPTEPTDDNPAVVAAYFGHTAVVQELLESLPGPCSPQRLLNWMLALACQRGHLGVVKLLVLTHGADPESYAVRKNEFPVIVRLPLYAAIKSGNEDIA
IFLLRHGAYFCSYILLDSPDPSKHLLRKYFIEASPLPSSYPGKTALRVKWSHLRLPWVDLDWLIDISCQITELDLSANCLATLPSVIPWGLINLRKLNLSDNHLG
ELPGVQSSDEIICSRLLEIDISSNKLSHLPPGFLHLSKLQKLTASKNCLEKLFEEENATNWIGLRKLQELDISDNKLTELPALFLHSFKSLNSLNVSRNNLKVFP
DPWACPLKCCKASRNALECLPDKMAVFWKNHLKDVDFSENALKEVPLGLFQLDALMFLRLQGNQLAALPPQEKWTCRQLKTLDLSRNQLGKNEDGLKTKRIAFFT
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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) 1 (1) 1 (2) 0 (0) 0 (0) 0 (0) 13 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top