AutismKB 2.0

Evidence Details for LCAT


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Basic Information Top
Gene Symbol:LCAT ( - )
Gene Full Name: lecithin-cholesterol acyltransferase
Band: 16q22.1
Quick LinksEntrez ID:3931; OMIM: 606967; Uniprot ID:LCAT_HUMAN; ENSEMBL ID: ENSG00000213398; HGNC ID: 6522
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LCAT|3931|nucleotide
ATGGGGCCGCCCGGCTCCCCATGGCAGTGGGTGACGCTGCTGCTGGGGCTGCTGCTCCCTCCTGCCGCCCCCTTCTGGCTCCTCAATGTGCTCTTCCCCCCGCAC
ACCACGCCCAAGGCTGAGCTCAGTAACCACACACGGCCCGTCATCCTCGTGCCCGGCTGCCTGGGGAATCAGCTAGAAGCCAAGCTGGACAAACCAGATGTGGTG
AACTGGATGTGCTACCGCAAGACAGAGGACTTCTTCACCATCTGGCTGGATCTCAACATGTTCCTACCCCTTGGGGTAGACTGCTGGATCGATAACACCAGGGTT
GTCTACAACCGGAGCTCTGGGCTCGTGTCCAACGCCCCTGGTGTCCAGATCCGCGTCCCTGGCTTTGGCAAGACCTACTCTGTGGAGTACCTGGACAGCAGCAAG
CTGGCAGGGTACCTGCACACACTGGTGCAGAACCTGGTCAACAATGGCTACGTGCGGGACGAGACTGTGCGCGCCGCCCCCTATGACTGGCGGCTGGAGCCCGGC
CAGCAGGAGGAGTACTACCGCAAGCTCGCAGGGCTGGTGGAGGAGATGCACGCTGCCTATGGGAAGCCTGTCTTCCTCATTGGCCACAGCCTCGGCTGTCTACAC
TTGCTCTATTTCCTGCTGCGCCAGCCCCAGGCCTGGAAGGACCGCTTTATTGATGGCTTCATCTCTCTTGGGGCTCCCTGGGGTGGCTCCATCAAGCCCATGCTG
GTCTTGGCCTCAGGTGACAACCAGGGCATCCCCATCATGTCCAGCATCAAGCTGAAAGAGGAGCAGCGCATAACCACCACCTCCCCCTGGATGTTTCCCTCTCGC
ATGGCGTGGCCTGAGGACCACGTGTTCATTTCCACACCCAGCTTCAACTACACAGGCCGTGACTTCCAACGCTTCTTTGCAGACCTGCACTTTGAGGAAGGCTGG
TACATGTGGCTGCAGTCACGTGACCTCCTGGCAGGACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGCCCACGCCCCGCACCTACATC
TACGACCACGGCTTCCCCTACACGGACCCTGTGGGTGTGCTCTATGAGGATGGTGATGACACGGTGGCGACCCGCAGCACCGAGCTCTGTGGCCTGTGGCAGGGC
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>LCAT|3931|protein
MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSNHTRPVILVPGCLGNQLEAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDNTRV
VYNRSSGLVSNAPGVQIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRDETVRAAPYDWRLEPGQQEEYYRKLAGLVEEMHAAYGKPVFLIGHSLGCLH
LLYFLLRQPQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWMFPSRMAWPEDHVFISTPSFNYTGRDFQRFFADLHFEEGW
YMWLQSRDLLAGLPAPGVEVYCLYGVGLPTPRTYIYDHGFPYTDPVGVLYEDGDDTVATRSTELCGLWQGRQPQPVHLLPLHGIQHLNMVFSNLTLEHINAILLG
AYRQGPPASPTASPEPPPPE
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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) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top