AutismKB 2.0

Evidence Details for LPL


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Basic Information Top
Gene Symbol:LPL ( HDLCQ11,LIPD )
Gene Full Name: lipoprotein lipase
Band: 8p21.3
Quick LinksEntrez ID:4023; OMIM: 609708; Uniprot ID:LIPL_HUMAN; ENSEMBL ID: ENSG00000175445; HGNC ID: 6677
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LPL|4023|nucleotide
ATGGAGAGCAAAGCCCTGCTCGTGCTGACTCTGGCCGTGTGGCTCCAGAGTCTGACCGCCTCCCGCGGAGGGGTGGCCGCCGCCGACCAAAGAAGAGATTTTATC
GACATCGAAAGTAAATTTGCCCTAAGGACCCCTGAAGACACAGCTGAGGACACTTGCCACCTCATTCCCGGAGTAGCAGAGTCCGTGGCTACCTGTCATTTCAAT
CACAGCAGCAAAACCTTCATGGTGATCCATGGCTGGACGGTAACAGGAATGTATGAGAGTTGGGTGCCAAAACTTGTGGCCGCCCTGTACAAGAGAGAACCAGAC
TCCAATGTCATTGTGGTGGACTGGCTGTCACGGGCTCAGGAGCATTACCCAGTGTCCGCGGGCTACACCAAACTGGTGGGACAGGATGTGGCCCGGTTTATCAAC
TGGATGGAGGAGGAGTTTAACTACCCTCTGGACAATGTCCATCTCTTGGGATACAGCCTTGGAGCCCATGCTGCTGGCATTGCAGGAAGTCTGACCAATAAGAAA
GTCAACAGAATTACTGGCCTCGATCCAGCTGGACCTAACTTTGAGTATGCAGAAGCCCCGAGTCGTCTTTCTCCTGATGATGCAGATTTTGTAGACGTCTTACAC
ACATTCACCAGAGGGTCCCCTGGTCGAAGCATTGGAATCCAGAAACCAGTTGGGCATGTTGACATTTACCCGAATGGAGGTACTTTTCAGCCAGGATGTAACATT
GGAGAAGCTATCCGCGTGATTGCAGAGAGAGGACTTGGAGATGTGGACCAGCTAGTGAAGTGCTCCCACGAGCGCTCCATTCATCTCTTCATCGACTCTCTGTTG
AATGAAGAAAATCCAAGTAAGGCCTACAGGTGCAGTTCCAAGGAAGCCTTTGAGAAAGGGCTCTGCTTGAGTTGTAGAAAGAACCGCTGCAACAATCTGGGCTAT
GAGATCAATAAAGTCAGAGCCAAAAGAAGCAGCAAAATGTACCTGAAGACTCGTTCTCAGATGCCCTACAAAGTCTTCCATTACCAAGTAAAGATTCATTTTTCT
GGGACTGAGAGTGAAACCCATACCAATCAGGCCTTTGAGATTTCTCTGTATGGCACCGTGGCCGAGAGTGAGAACATCCCATTCACTCTGCCTGAAGTTTCCACA
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>LPL|4023|protein
MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPD
SNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLH
TFTRGSPGRSIGIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGY
EINKVRAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIGELLMLKLKWKSDSYFSWSDW
WSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG
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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 (4) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top