AutismKB 2.0

Evidence Details for LIPH


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Basic Information Top
Gene Symbol:LIPH ( AH,ARWH2,LAH2,LPDLR,PLA1B,mPA-PLA1 )
Gene Full Name: lipase, member H
Band: 3q27.2
Quick LinksEntrez ID:200879; OMIM: 607365; Uniprot ID:LIPH_HUMAN; ENSEMBL ID: ENSG00000163898; HGNC ID: 18483
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIPH|200879|nucleotide
ATGTTGAGATTCTACTTATTCATCAGTTTGTTGTGCTTGTCAAGATCAGACGCAGAAGAAACATGTCCTTCATTCACCAGGCTGAGCTTTCACAGTGCAGTGGTT
GGTACGGGACTAAATGTGAGGCTGATGCTCTACACAAGGAAAAACCTGACCTGCGCACAAACCATCAACTCCTCAGCTTTTGGGAACTTGAATGTGACCAAGAAA
ACCACCTTCATTGTCCATGGATTCAGGCCAACAGGCTCCCCTCCTGTTTGGATGGATGACTTAGTAAAGGGTTTGCTCTCTGTTGAAGACATGAACGTAGTTGTT
GTTGATTGGAATCGAGGAGCTACAACTTTAATATATACCCATGCCTCTAGTAAGACCAGAAAAGTAGCCATGGTCTTGAAGGAATTTATTGACCAGATGTTGGCA
GAAGGAGCTTCTCTTGATGACATTTACATGATCGGAGTAAGTCTAGGAGCCCACATATCTGGGTTTGTTGGAGAGATGTACGATGGATGGCTGGGGAGAATTACA
GGCCTCGACCCTGCAGGCCCTTTATTCAACGGGAAACCTCACCAAGACAGATTAGATCCCAGTGATGCGCAGTTTGTTGATGTCATCCATTCCGACACTGATGCA
CTGGGCTACAAGGAGCCATTAGGAAACATAGACTTCTACCCAAATGGAGGATTGGATCAACCTGGCTGCCCCAAAACAATATTGGGAGGATTTCAGTATTTTAAA
TGTGACCACCAGAGGTCTGTATACCTGTACCTGTCTTCCCTGAGAGAGAGCTGCACCATCACTGCGTATCCCTGTGACTCCTACCAGGATTATAGGAATGGCAAG
TGTGTCAGCTGCGGCACGTCACAAAAAGAGTCCTGTCCCCTTCTGGGCTATTATGCTGATAATTGGAAAGACCATCTAAGGGGGAAAGATCCTCCAATGACGAAG
GCATTCTTTGACACAGCTGAGGAGAGCCCATTCTGCATGTATCATTACTTTGTGGATATTATAACATGGAACAAGAATGTAAGAAGAGGGGACATTACCATCAAA
TTGAGAGACAAAGCTGGAAACACCACAGAATCCAAAATCAATCATGAACCCACCACATTTCAGAAATATCACCAAGTGAGTCTACTTGCAAGATTTAATCAAGAT
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>LIPH|200879|protein
MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSSAFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVV
VDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPAGPLFNGKPHQDRLDPSDAQFVDVIHSDTDA
LGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYADNWKDHLRGKDPPMTK
AFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTESKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH
PERPQLCRYDLVLMENVETVFQPILCPELQL
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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) 0 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top