AutismKB 2.0

Evidence Details for LAMA2


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Basic Information Top
Gene Symbol:LAMA2 ( LAMM )
Gene Full Name: laminin, alpha 2
Band: 6q22.33
Quick LinksEntrez ID:3908; OMIM: 156225; Uniprot ID:LAMA2_HUMAN; ENSEMBL ID: ENSG00000196569; HGNC ID: 6482
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LAMA2|3908|nucleotide
ATGCCGGGAGCCGCCGGGGTCCTCCTCCTTCTGCTGCTCTCCGGAGGCCTCGGGGGCGTACAGGCGCAGCGGCCGCAGCAGCAGCGGCAGTCACAGGCACATCAG
CAAAGAGGTTTATTCCCTGCTGTCCTGAATCTTGCTTCTAATGCTCTTATCACGACCAATGCAACATGTGGAGAAAAAGGACCTGAAATGTACTGCAAATTGGTA
GAACATGTCCCTGGGCAGCCTGTGAGGAACCCGCAGTGTCGAATCTGCAATCAAAACAGCAGCAATCCAAACCAGAGACACCCGATTACAAATGCTATTGATGGA
AAGAACACTTGGTGGCAGAGTCCCAGTATTAAGAATGGAATCGAATACCATTATGTGACAATTACCCTGGATTTACAGCAGGTGTTCCAGATCGCGTATGTGATT
GTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATGATGTTGAATACAAGCCCTGGCAGTATCATGCTGTGACAGACACGGAG
TGCCTAACGCTTTACAATATTTATCCCCGCACTGGGCCACCGTCATATGCCAAAGATGATGAGGTCATCTGCACTTCATTTTACTCCAAGATACACCCCTTAGAA
AATGGAGAGATTCACATCTCTTTAATCAATGGGAGACCAAGTGCCGATGATCCTTCTCCAGAACTGCTAGAATTTACCTCCGCTCGCTATATTCGCCTGAGATTT
CAGAGGATCCGCACACTGAATGCTGACTTGATGATGTTTGCTCACAAAGACCCAAGAGAAATTGACCCCATTGTCACCAGAAGATATTACTACTCGGTCAAGGAT
ATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATAAATCTCGCTGTGAGTGTGAGCATAACACATGTGGC
GATAGCTGTGATCAGTGCTGTCCAGGATTCCATCAGAAACCCTGGAGAGCTGGAACTTTTCTAACTAAAACTGAATGTGAAGCATGCAATTGTCATGGAAAAGCT
GAAGAATGCTATTATGATGAAAATGTTGCCAGAAGAAATCTGAGTTTGAATATACGTGGAAAGTACATTGGAGGGGGTGTCTGCATTAATTGTACCCAAAACACT
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>LAMA2|3908|protein
MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDG
KNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICTSFYSKIHPLE
NGEIHISLINGRPSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDPATNKSRCECEHNTCG
DSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPCQPCHCDPIG
SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNEDPCFGPCICKENVEGGDCSRCKSGFFNLQEDNWKGCDECFCSGVSN
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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) 1 (1) 0 (0) 0 (0) 0 (1) 1 (2) 0 (1) 0 (0) 5 (7)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top