Evidence Details for LRRK1
Basic Information Top
| Gene Symbol: | LRRK1 ( FLJ23119,FLJ27465,KIAA1790,RIPK6,Roco1 ) |
|---|---|
| Gene Full Name: | leucine-rich repeat kinase 1 |
| Band: | 15q26.3 |
| Quick Links | Entrez 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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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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MAGMSQRPPSMYWCVGPEESAVCPERAMETLNGAGDTGGKPSTRGGDPAARSRRTEGIRAAYRRGDRGGARDLLEEACDQCASQLEKGQLLSIPAAYGDLEMVRY
LLSKRLVELPTEPTDDNPAVVAAYFGHTAVVQELLESLPGPCSPQRLLNWMLALACQRGHLGVVKLLVLTHGADPESYAVRKNEFPVIVRLPLYAAIKSGNEDIA
IFLLRHGAYFCSYILLDSPDPSKHLLRKYFIEASPLPSSYPGKTALRVKWSHLRLPWVDLDWLIDISCQITELDLSANCLATLPSVIPWGLINLRKLNLSDNHLG
ELPGVQSSDEIICSRLLEIDISSNKLSHLPPGFLHLSKLQKLTASKNCLEKLFEEENATNWIGLRKLQELDISDNKLTELPALFLHSFKSLNSLNVSRNNLKVFP
DPWACPLKCCKASRNALECLPDKMAVFWKNHLKDVDFSENALKEVPLGLFQLDALMFLRLQGNQLAALPPQEKWTCRQLKTLDLSRNQLGKNEDGLKTKRIAFFT
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bonati, 2005 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) | | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.