AutismKB 2.0

Evidence Details for LRTOMT


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Basic Information Top
Gene Symbol:LRTOMT ( COMT2,DFNB63,FLJ52451,LRRC51,LRTOMT1,LRTOMT2 )
Gene Full Name: leucine rich transmembrane and 0-methyltransferase domain containing
Band: 11q13.4
Quick LinksEntrez ID:220074; OMIM: 611451,612414; Uniprot ID:LRC51_HUMAN; ENSEMBL ID: ENSG00000184154,ENSG00000241994; HGNC ID: 25033
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRTOMT|220074|nucleotide
ATGAACAAACGGGACTATATGAACACTTCGGTACAGGAGCCCCCTCTTGACTACTCCTTCAGAAGCATCCACGTCATTCAAGATCTGGTAAATGAGGAGCCAAGG
ACAGGACTACGACCACTGAAGCGTTCAAAGTCGGGGAAATCACTGACCCAGTCCCTGTGGCTGAATAACAATGTTCTCAATGATCTGAGAGACTTCAACCAGGTG
GCTTCACAGCTGTTGGAGCACCCAGAGAACCTGGCCTGGATCGACCTGTCCTTTAATGACCTGACTTCCATTGACCCTGTCCTAACAACTTTCTTCAACCTGAGT
GTCCTCTATCTTCACGGCAACAGCATCCAGCGCCTGGGGGAGGTGAATAAGCTGGCTGTCCTTCCTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAG
GAAGAGAAAGGGTATAGAGTACCAGGGTCTGTAGAGATGCCTCACAGGCCTCCATGA






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>LRTOMT|220074|protein
MNKRDYMNTSVQEPPLDYSFRSIHVIQDLVNEEPRTGLRPLKRSKSGKSLTQSLWLNNNVLNDLRDFNQVASQLLEHPENLAWIDLSFNDLTSIDPVLTTFFNLS
VLYLHGNSIQRLGEVNKLAVLPRLRSLTLHGNPMEEEKGYRVPGSVEMPHRPP



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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top