Evidence Details for LIMK1
Basic Information Top
Gene Symbol: | LIMK1 ( LIMK ) |
---|---|
Gene Full Name: | LIM domain kinase 1 |
Band: | 7q11.23 |
Quick Links | Entrez ID:3984; OMIM: 601329; Uniprot ID:LIMK1_HUMAN; ENSEMBL ID: ENSG00000106683; HGNC ID: 6613 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>LIMK1|3984|nucleotide
ATGCTGTTGGCTTCAGCCCCAAGAAGACGCCGCTTCCTCCAGAGGGCTAAGTGTTGTGACTGCAGTGCCTCCCTGTCGCACCAGTACTATGAGAAGGATGGGCAG
CTCTTCTGCAAGAAGGACTACTGGGCCCGCTATGGCGAGTCCTGCCATGGGTGCTCTGAGCAAATCACCAAGGGACTGGTTATGGTGGCTGGGGAGCTGAAGTAC
CACCCCGAGTGTTTCATCTGCCTCACGTGTGGGACCTTTATCGGTGACGGGGACACCTACACGCTGGTGGAGCACTCCAAGCTGTACTGCGGGCACTGCTACTAC
CAGACTGTGGTGACCCCCGTCATCGAGCAGATCCTGCCTGACTCCCCTGGCTCCCACCTGCCCCACACCGTCACCCTGGTGTCCATCCCAGCCTCATCTCATGGC
AAGCGTGGACTTTCAGTCTCCATTGACCCCCCGCACGGCCCACCGGGCTGTGGCACCGAGCACTCACACACCGTCCGCGTCCAGGGAGTGGATCCGGGCTGCATG
AGCCCAGATGTGAAGAATTCCATCCACGTCGGAGACCGGATCTTGGAAATCAATGGCACGCCCATCCGAAATGTGCCCCTGGACGAGATTGACCTGCTGATTCAG
GAAACCAGCCGCCTGCTCCAGCTGACCCTCGAGCATGACCCTCACGATACACTGGGCCACGGGCTGGGGCCTGAGACCAGCCCCCTGAGCTCTCCGGCTTATACT
CCCAGCGGGGAGGCGGGCAGCTCTGCCCGGCAGAAACCTGTCTTGAGGAGCTGCAGCATCGACAGGTCTCCGGGCGCTGGCTCACTGGGCTCCCCGGCCTCCCAG
CGCAAGGACCTGGGTCGCTCTGAGTCCCTCCGCGTAGTCTGCCGGCCACACCGCATCTTCCGGCCGTCGGACCTCATCCACGGGGAGGTGCTGGGCAAGGGCTGC
TTCGGCCAGGCTATCAAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAG
GTGAAGGTCATGCGATGCCTGGAACACCCCAACGTGCTCAAGTTCATCGGGGTGCTCTACAAGGACAAGAGGCTCAACTTCATCACTGAGTACATCAAGGGCGGC
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ATGCTGTTGGCTTCAGCCCCAAGAAGACGCCGCTTCCTCCAGAGGGCTAAGTGTTGTGACTGCAGTGCCTCCCTGTCGCACCAGTACTATGAGAAGGATGGGCAG
CTCTTCTGCAAGAAGGACTACTGGGCCCGCTATGGCGAGTCCTGCCATGGGTGCTCTGAGCAAATCACCAAGGGACTGGTTATGGTGGCTGGGGAGCTGAAGTAC
CACCCCGAGTGTTTCATCTGCCTCACGTGTGGGACCTTTATCGGTGACGGGGACACCTACACGCTGGTGGAGCACTCCAAGCTGTACTGCGGGCACTGCTACTAC
CAGACTGTGGTGACCCCCGTCATCGAGCAGATCCTGCCTGACTCCCCTGGCTCCCACCTGCCCCACACCGTCACCCTGGTGTCCATCCCAGCCTCATCTCATGGC
AAGCGTGGACTTTCAGTCTCCATTGACCCCCCGCACGGCCCACCGGGCTGTGGCACCGAGCACTCACACACCGTCCGCGTCCAGGGAGTGGATCCGGGCTGCATG
AGCCCAGATGTGAAGAATTCCATCCACGTCGGAGACCGGATCTTGGAAATCAATGGCACGCCCATCCGAAATGTGCCCCTGGACGAGATTGACCTGCTGATTCAG
GAAACCAGCCGCCTGCTCCAGCTGACCCTCGAGCATGACCCTCACGATACACTGGGCCACGGGCTGGGGCCTGAGACCAGCCCCCTGAGCTCTCCGGCTTATACT
CCCAGCGGGGAGGCGGGCAGCTCTGCCCGGCAGAAACCTGTCTTGAGGAGCTGCAGCATCGACAGGTCTCCGGGCGCTGGCTCACTGGGCTCCCCGGCCTCCCAG
CGCAAGGACCTGGGTCGCTCTGAGTCCCTCCGCGTAGTCTGCCGGCCACACCGCATCTTCCGGCCGTCGGACCTCATCCACGGGGAGGTGCTGGGCAAGGGCTGC
TTCGGCCAGGCTATCAAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAG
GTGAAGGTCATGCGATGCCTGGAACACCCCAACGTGCTCAAGTTCATCGGGGTGCTCTACAAGGACAAGAGGCTCAACTTCATCACTGAGTACATCAAGGGCGGC
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>LIMK1|3984|protein
MLLASAPRRRRFLQRAKCCDCSASLSHQYYEKDGQLFCKKDYWARYGESCHGCSEQITKGLVMVAGELKYHPECFICLTCGTFIGDGDTYTLVEHSKLYCGHCYY
QTVVTPVIEQILPDSPGSHLPHTVTLVSIPASSHGKRGLSVSIDPPHGPPGCGTEHSHTVRVQGVDPGCMSPDVKNSIHVGDRILEINGTPIRNVPLDEIDLLIQ
ETSRLLQLTLEHDPHDTLGHGLGPETSPLSSPAYTPSGEAGSSARQKPVLRSCSIDRSPGAGSLGSPASQRKDLGRSESLRVVCRPHRIFRPSDLIHGEVLGKGC
FGQAIKVTHRETGEVMVMKELIRFDEETQRTFLKEVKVMRCLEHPNVLKFIGVLYKDKRLNFITEYIKGGTLRGIIKSMDSQYPWSQRVSFAKDIASGMAYLHSM
NIIHRDLNSHNCLVRENKNVVVADFGLARLMVDEKTQPEGLRSLKKPDRKKRYTVVGNPYWMAPEMINGRSYDEKVDVFSFGIVLCEIIGRVNADPDYLPRTMDF
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MLLASAPRRRRFLQRAKCCDCSASLSHQYYEKDGQLFCKKDYWARYGESCHGCSEQITKGLVMVAGELKYHPECFICLTCGTFIGDGDTYTLVEHSKLYCGHCYY
QTVVTPVIEQILPDSPGSHLPHTVTLVSIPASSHGKRGLSVSIDPPHGPPGCGTEHSHTVRVQGVDPGCMSPDVKNSIHVGDRILEINGTPIRNVPLDEIDLLIQ
ETSRLLQLTLEHDPHDTLGHGLGPETSPLSSPAYTPSGEAGSSARQKPVLRSCSIDRSPGAGSLGSPASQRKDLGRSESLRVVCRPHRIFRPSDLIHGEVLGKGC
FGQAIKVTHRETGEVMVMKELIRFDEETQRTFLKEVKVMRCLEHPNVLKFIGVLYKDKRLNFITEYIKGGTLRGIIKSMDSQYPWSQRVSFAKDIASGMAYLHSM
NIIHRDLNSHNCLVRENKNVVVADFGLARLMVDEKTQPEGLRSLKKPDRKKRYTVVGNPYWMAPEMINGRSYDEKVDVFSFGIVLCEIIGRVNADPDYLPRTMDF
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Evidence summary Top
Click 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) | 0 (4) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 11 (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 | ||||||
Jacquemont, 2006 | France | aCGH | ASD | - | - | - | - | 29 | - | 29 | ||
Depienne, 2007 | France | STS mapping | autism | - | - | - | - | 1 | - | 1 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.836989 | Down | 0.183255 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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