AutismKB 2.0

Evidence Details for LIPE


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Basic Information Top
Gene Symbol:LIPE ( HSL,LHS )
Gene Full Name: lipase, hormone-sensitive
Band: 19q13.2
Quick LinksEntrez ID:3991; OMIM: 151750; Uniprot ID:LIPS_HUMAN; ENSEMBL ID: ENSG00000079435; HGNC ID: 6621
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIPE|3991|nucleotide
ATGGAGCCAGGTTCTAAGTCAGTGTCTAGGTCAGACTGGCAACCTGAACCACACCAGAGGCCTATAACCCCGCTAGAGCCTGGGCCAGAAAAGACACCCATAGCC
CAGCCAGAATCGAAGACTCTGCAGGGATCCAATACCCAACAGAAGCCTGCTTCAAACCAAAGACCCCTCACCCAGCAGGAGACCCCTGCACAACATGATGCTGAA
TCCCAGAAGGAACCTAGAGCCCAACAAAAATCTGCTTCACAAGAGGAATTTCTTGCCCCACAGAAGCCCGCACCACAGCAATCACCTTACATCCAAAGGGTGCTG
CTCACTCAACAGGAAGCTGCCTCCCAGCAGGGACCTGGGCTAGGAAAAGAATCTATAACTCAACAGGAGCCAGCATTGAGACAAAGACATGTAGCCCAGCCAGGG
CCTGGGCCAGGAGAGCCACCTCCAGCTCAACAAGAAGCTGAATCAACACCTGCGGCCCAGGCTAAACCTGGAGCCAAAAGGGAGCCATCTGCCCCGACTGAATCT
ACGTCCCAAGAGACACCTGAACAGTCAGACAAGCAAACAACGCCAGTCCAGGGAGCCAAATCCAAGCAGGGATCTTTGACAGAGCTGGGATTTCTAACAAAACTT
CAGGAACTATCCATACAGCGATCAGCCCTAGAGTGGAAGGCACTTTCTGAGTGGGTCACAGATTCTGAGTCAGAATCAGATGTGGGATCATCTTCAGACACAGAT
TCTCCAGCCACGATGGGTGGAATGGTGGCCCAGGGAGTGAAGCTAGGCTTCAAAGGAAAATCTGGTTATAAAGTGATGTCAGGATACAGTGGGACGTCGCCACAT
GAGAAAACCAGTGCTCGGAATCACAGACACTACCAGGATACAGCCTCAAGGCTCATCCACAACATGGACCTGCGCACAATGACACAGTCGCTGGTGACTCTGGCG
GAGGACAACATAGCCTTCTTCTCGAGCCAGGGTCCTGGGGAAACGGCCCAGCGGCTGTCAGGCGTTTTTGCCGGTGTACGGGAGCAGGCGCTGGGGCTGGAGCCG
GCCCTGGGCCGCCTGCTGGGTGTGGCGCACCTCTTTGACCTGGACCCAGAGACACCGGCCAACGGGTACCGCAGCCTAGTGCACACAGCCCGCTGCTGCCTGGCG
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>LIPE|3991|protein
MEPGSKSVSRSDWQPEPHQRPITPLEPGPEKTPIAQPESKTLQGSNTQQKPASNQRPLTQQETPAQHDAESQKEPRAQQKSASQEEFLAPQKPAPQQSPYIQRVL
LTQQEAASQQGPGLGKESITQQEPALRQRHVAQPGPGPGEPPPAQQEAESTPAAQAKPGAKREPSAPTESTSQETPEQSDKQTTPVQGAKSKQGSLTELGFLTKL
QELSIQRSALEWKALSEWVTDSESESDVGSSSDTDSPATMGGMVAQGVKLGFKGKSGYKVMSGYSGTSPHEKTSARNHRHYQDTASRLIHNMDLRTMTQSLVTLA
EDNIAFFSSQGPGETAQRLSGVFAGVREQALGLEPALGRLLGVAHLFDLDPETPANGYRSLVHTARCCLAHLLHKSRYVASNRRSIFFRTSHNLAELEAYLAALT
QLRALVYYAQRLLVTNRPGVLFFEGDEGLTADFLREYVTLHKGCFYGRCLGFQFTPAIRPFLQTISIGLVSFGEHYKRNETGLSVAASSLFTSGRFAIDPELRGA
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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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top