Evidence Details for LAMA3
Basic Information Top
Gene Symbol: | LAMA3 ( BM600,E170,LAMNA,LOCS,lama3a ) |
---|---|
Gene Full Name: | laminin, alpha 3 |
Band: | 18q11.2 |
Quick Links | Entrez ID:3909; OMIM: 600805; Uniprot ID:LAMA3_HUMAN; ENSEMBL ID: ENSG00000053747; HGNC ID: 6483 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>LAMA3|3909|nucleotide
ATGCCTCCAGCAGTGAGGCGGTCAGCCTGCAGCATGGGATGGCTGTGGATCTTTGGGGCAGCCCTGGGGCAGTGTCTGGGCTACAGTTCACAGCAGCAAAGGGTG
CCATTTCTTCAGCCTCCCGGTCAAAGTCAACTGCAAGCGAGTTATGTGGAGTTTAGACCCAGCCAGGGTTGTAGCCCTGGATACTATCGGGATCATAAAGGCTTG
TATACCGGACGGTGTGTTCCCTGCAATTGCAACGGACATTCAAATCAATGCCAGGATGGCTCAGGCATATGTGTTAACTGTCAGCACAACACCGCGGGAGAGCAC
TGTGAACGCTGCCAGGAGGGCTACTATGGCAACGCCGTCCACGGATCCTGCAGGGCCTGCCCATGTCCTCACACTAACAGCTTTGCCACTGGCTGTGTGGTGAAT
GGGGGAGACGTGCGGTGCTCCTGCAAAGCTGGGTACACAGGAACACAGTGTGAAAGGTGTGCACCGGGATATTTCGGGAATCCCCAGAAATTCGGAGGTAGCTGC
CAACCATGCAGTTGTAACAGCAATGGCCAGCTGGGCAGCTGTCATCCCCTGACTGGAGACTGCATAAACCAAGAACCCAAAGATAGCAGCCCTGCAGAAGAATGT
GATGATTGCGACAGCTGTGTGATGACCCTCCTGAACGACCTGGCCACCATGGGCGAGCAGCTCCGCCTGGTCAAGTCTCAGCTGCAGGGCCTGAGTGCCAGCGCA
GGGCTTCTGGAGCAGATGAGGCACATGGAGACCCAGGCCAAGGACCTGAGGAATCAGTTGCTCAACTACCGTTCTGCCATTTCAAATCATGGATCAAAAATAGAA
GGCCTGGAAAGAGAACTGACTGATTTGAATCAAGAATTTGAGACTTTGCAAGAAAAGGCTCAAGTAAATTCCAGAAAAGCACAAACATTAAACAACAATGTTAAT
CGGGCAACACAAAGCGCAAAAGAACTGGATGTGAAGATTAAAAATGTCATCCGGAATGTGCACATTCTTTTAAAGCAGATCTCTGGGACAGATGGAGAGGGAAAC
AACGTGCCTTCAGGTGACTTTTCCAGAGAGTGGGCTGAAGCCCAGCGCATGATGAGGGAACTGCGGAACAGGAACTTTGGAAAGCACCTCAGAGAAGCAGAAGCT
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ATGCCTCCAGCAGTGAGGCGGTCAGCCTGCAGCATGGGATGGCTGTGGATCTTTGGGGCAGCCCTGGGGCAGTGTCTGGGCTACAGTTCACAGCAGCAAAGGGTG
CCATTTCTTCAGCCTCCCGGTCAAAGTCAACTGCAAGCGAGTTATGTGGAGTTTAGACCCAGCCAGGGTTGTAGCCCTGGATACTATCGGGATCATAAAGGCTTG
TATACCGGACGGTGTGTTCCCTGCAATTGCAACGGACATTCAAATCAATGCCAGGATGGCTCAGGCATATGTGTTAACTGTCAGCACAACACCGCGGGAGAGCAC
TGTGAACGCTGCCAGGAGGGCTACTATGGCAACGCCGTCCACGGATCCTGCAGGGCCTGCCCATGTCCTCACACTAACAGCTTTGCCACTGGCTGTGTGGTGAAT
GGGGGAGACGTGCGGTGCTCCTGCAAAGCTGGGTACACAGGAACACAGTGTGAAAGGTGTGCACCGGGATATTTCGGGAATCCCCAGAAATTCGGAGGTAGCTGC
CAACCATGCAGTTGTAACAGCAATGGCCAGCTGGGCAGCTGTCATCCCCTGACTGGAGACTGCATAAACCAAGAACCCAAAGATAGCAGCCCTGCAGAAGAATGT
GATGATTGCGACAGCTGTGTGATGACCCTCCTGAACGACCTGGCCACCATGGGCGAGCAGCTCCGCCTGGTCAAGTCTCAGCTGCAGGGCCTGAGTGCCAGCGCA
GGGCTTCTGGAGCAGATGAGGCACATGGAGACCCAGGCCAAGGACCTGAGGAATCAGTTGCTCAACTACCGTTCTGCCATTTCAAATCATGGATCAAAAATAGAA
GGCCTGGAAAGAGAACTGACTGATTTGAATCAAGAATTTGAGACTTTGCAAGAAAAGGCTCAAGTAAATTCCAGAAAAGCACAAACATTAAACAACAATGTTAAT
CGGGCAACACAAAGCGCAAAAGAACTGGATGTGAAGATTAAAAATGTCATCCGGAATGTGCACATTCTTTTAAAGCAGATCTCTGGGACAGATGGAGAGGGAAAC
AACGTGCCTTCAGGTGACTTTTCCAGAGAGTGGGCTGAAGCCCAGCGCATGATGAGGGAACTGCGGAACAGGAACTTTGGAAAGCACCTCAGAGAAGCAGAAGCT
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>LAMA3|3909|protein
MPPAVRRSACSMGWLWIFGAALGQCLGYSSQQQRVPFLQPPGQSQLQASYVEFRPSQGCSPGYYRDHKGLYTGRCVPCNCNGHSNQCQDGSGICVNCQHNTAGEH
CERCQEGYYGNAVHGSCRACPCPHTNSFATGCVVNGGDVRCSCKAGYTGTQCERCAPGYFGNPQKFGGSCQPCSCNSNGQLGSCHPLTGDCINQEPKDSSPAEEC
DDCDSCVMTLLNDLATMGEQLRLVKSQLQGLSASAGLLEQMRHMETQAKDLRNQLLNYRSAISNHGSKIEGLERELTDLNQEFETLQEKAQVNSRKAQTLNNNVN
RATQSAKELDVKIKNVIRNVHILLKQISGTDGEGNNVPSGDFSREWAEAQRMMRELRNRNFGKHLREAEADKRESQLLLNRIRTWQKTHQGENNGLANSIRDSLN
EYEAKLSDLRARLQEAAAQAKQANGLNQENERALGAIQRQVKEINSLQSDFTKYLTTADSSLLQTNIALQLMEKSQKEYEKLAASLNEARQELSDKVRELSRSAG
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MPPAVRRSACSMGWLWIFGAALGQCLGYSSQQQRVPFLQPPGQSQLQASYVEFRPSQGCSPGYYRDHKGLYTGRCVPCNCNGHSNQCQDGSGICVNCQHNTAGEH
CERCQEGYYGNAVHGSCRACPCPHTNSFATGCVVNGGDVRCSCKAGYTGTQCERCAPGYFGNPQKFGGSCQPCSCNSNGQLGSCHPLTGDCINQEPKDSSPAEEC
DDCDSCVMTLLNDLATMGEQLRLVKSQLQGLSASAGLLEQMRHMETQAKDLRNQLLNYRSAISNHGSKIEGLERELTDLNQEFETLQEKAQVNSRKAQTLNNNVN
RATQSAKELDVKIKNVIRNVHILLKQISGTDGEGNNVPSGDFSREWAEAQRMMRELRNRNFGKHLREAEADKRESQLLLNRIRTWQKTHQGENNGLANSIRDSLN
EYEAKLSDLRARLQEAAAQAKQANGLNQENERALGAIQRQVKEINSLQSDFTKYLTTADSSLLQTNIALQLMEKSQKEYEKLAASLNEARQELSDKVRELSRSAG
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
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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