AutismKB 2.0

Evidence Details for LIPC


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Basic Information Top
Gene Symbol:LIPC ( HDLCQ12,HL,HTGL,LIPH )
Gene Full Name: lipase, hepatic
Band: 15q21.3
Quick LinksEntrez ID:3990; OMIM: 151670; Uniprot ID:LIPC_HUMAN; ENSEMBL ID: ENSG00000166035; HGNC ID: 6619
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LIPC|3990|nucleotide
ATGGACACAAGTCCCCTGTGTTTCTCCATTCTGTTGGTTTTATGCATCTTTATCCAATCAAGTGCCCTTGGACAAAGCCTGAAACCAGAGCCATTTGGAAGAAGA
GCTCAAGCTGTTGAAACAAACAAAACGCTGCATGAGATGAAGACCAGATTCCTGCTCTTTGGAGAAACCAATCAGGGCTGTCAGATTCGAATCAATCATCCGGAC
ACGTTACAGGAGTGCGGCTTCAACTCCTCCCTGCCTCTGGTGATGATAATCCACGGGTGGTCGGTGGACGGCGTGCTAGAAAACTGGATCTGGCAGATGGTGGCC
GCGCTGAAGTCTCAGCCGGCCCAGCCAGTGAACGTGGGGCTGGTGGACTGGATCACCCTGGCCCACGACCACTACACCATCGCCGTCCGCAACACCCGCCTTGTG
GGCAAGGAGGTCGCGGCTCTTCTCCGGTGGCTGGAGGAATCTGTGCAACTCTCTCGAAGCCATGTTCACCTAATTGGGTACAGCCTGGGTGCACACGTGTCAGGA
TTTGCCGGCAGTTCCATCGGTGGAACGCACAAGATTGGGAGAATCACAGGGCTGGATGCCGCGGGACCTTTGTTTGAGGGAAGTGCCCCCAGCAATCGTCTTTCT
CCAGATGATGCCAATTTTGTGGATGCCATTCATACCTTTACCCGGGAGCACATGGGCCTGAGCGTGGGCATCAAACAGCCCATAGGACACTATGACTTCTATCCC
AACGGGGGCTCCTTCCAGCCTGGCTGCCACTTCCTAGAGCTCTACAGACATATTGCCCAGCACGGCTTCAATGCCATCACCCAGACCATAAAATGCTCCCACGAG
CGATCGGTGCACCTTTTCATCGACTCCTTGCTGCACGCCGGCACGCAGAGCATGGCCTACCCGTGTGGTGACATGAACAGCTTCAGCCAGGGCCTGTGCCTGAGC
TGCAAGAAGGGCCGCTGCAACACGCTGGGCTACCACGTCCGCCAGGAGCCGCGGAGCAAGAGCAAGAGGCTCTTCCTCGTAACGCGAGCCCAGTCCCCCTTCAAA
GTTTATCATTACCAGTTCAAGATCCAGTTCATCAACCAAACTGAGACACCAATACAAACAACTTTTACCATGTCACTACTCGGAACAAAAGAGAAAATGCAGAAA
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>LIPC|3990|protein
MDTSPLCFSILLVLCIFIQSSALGQSLKPEPFGRRAQAVETNKTLHEMKTRFLLFGETNQGCQIRINHPDTLQECGFNSSLPLVMIIHGWSVDGVLENWIWQMVA
ALKSQPAQPVNVGLVDWITLAHDHYTIAVRNTRLVGKEVAALLRWLEESVQLSRSHVHLIGYSLGAHVSGFAGSSIGGTHKIGRITGLDAAGPLFEGSAPSNRLS
PDDANFVDAIHTFTREHMGLSVGIKQPIGHYDFYPNGGSFQPGCHFLELYRHIAQHGFNAITQTIKCSHERSVHLFIDSLLHAGTQSMAYPCGDMNSFSQGLCLS
CKKGRCNTLGYHVRQEPRSKSKRLFLVTRAQSPFKVYHYQFKIQFINQTETPIQTTFTMSLLGTKEKMQKIPITLGKGIASNKTYSFLITLDVDIGELIMIKFKW
ENSAVWANVWDTVQTIIPWSTGPRHSGLVLKTIRVKAGETQQRMTFCSENTDDLLLRPTQEKIFVKCEIKSKTSKRKIR
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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 (6) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (7)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top