AutismKB 2.0

Evidence Details for LMF1


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Basic Information Top
Gene Symbol:LMF1 ( C16orf26,FLJ12681,FLJ22302,HMFN1876,JFP11,TMEM112,TMEM112A )
Gene Full Name: lipase maturation factor 1
Band: 16p13.3
Quick LinksEntrez ID:64788; OMIM: 611761; Uniprot ID:LMF1_HUMAN; ENSEMBL ID: ENSG00000103227; HGNC ID: 14154
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LMF1|64788|nucleotide
ATGCGCCCTGACAGCCCAACAATGGCGGCGCCCGCGGAGTCGCTGAGGAGGCGGAAGACTGGGTACTCGGATCCGGAGCCTGAGTCGCCGCCCGCGCCGGGGCGT
GGCCCCGCAGGCTCTCCGGCCCATCTCCACACGGGCACCTTCTGGCTGACCCGGATCGTGCTCCTGAAGGCCCTAGCCTTCGTGTACTTCGTGGCATTCCTGGTG
GCTTTCCATCAGAACAAGCAGCTCATCGGTGACAGGGGGCTGCTTCCCTGCAGAGTGTTCCTGAAGAACTTCCAGCAGTACTTCCAGGACAGGACGAGCTGGGAA
GTCTTCAGCTACATGCCCACCATCCTCTGGCTGATGGACTGGTCAGACATGAACTCCAACCTGGACTTGCTGGCTCTTCTCGGACTGGGCATCTCGTCTTTCGTA
CTGATCACGGGCTGCGCCAACATGCTTCTCATGGCTGCCCTGTGGGGCCTCTACATGTCCCTGGTTAATGTGGGCCATGTCTGGTACTCTTTCGGATGGGAGTCC
CAGCTTCTGGAGACGGGGTTCCTGGGGATCTTCCTGTGCCCTCTGTGGACGCTGTCAAGGCTGCCCCAGCATACCCCCACATCCCGGATTGTCCTGTGGGGCTTC
CGGTGGCTGATCTTCAGGATCATGCTTGGAGCAGGCCTGATCAAGATCCGGGGGGACCGGTGCTGGCGAGACCTCACCTGCATGGACTTCCACTATGAGACCCAG
CCGATGCCCAATCCTGTGGCGTACTACCTGCACCACTCACCCTGGTGGTTCCATCGCTTCGAGACGCTCAGCAACCACTTCATCGAGCTCCTGGTGCCCTTCTTC
CTCTTCCTCGGCCGGCGGGCGTGCATCATCCACGGGGTGCTGCAGATCCTGTTCCAGGCCGTCCTCATCGTCAGCGGGAACCTCAGCTTCCTGAACTGGCTGACT
ATGGTGCCCAGCCTGGCCTGCTTTGATGACGCCACCCTGGGATTCTTGTTCCCCTCTGGGCCAGGCAGCCTGAAGGACCGAGTTCTGCAGATGCAGAGGGACATC
CGAGGGGCCCGGCCCGAGCCCAGATTCGGCTCCGTGGTGCGGCGTGCAGCCAACGTCTCGCTGGGCGTCCTGCTGGCCTGGCTCAGCGTGCCCGTGGTCCTCAAC
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>LMF1|64788|protein
MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKALAFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRTSWE
VFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFVLITGCANMLLMAALWGLYMSLVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHTPTSRIVLWGF
RWLIFRIMLGAGLIKIRGDRCWRDLTCMDFHYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQAVLIVSGNLSFLNWLT
MVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDIRGARPEPRFGSVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVI
LQGTASSNASAPDAMWEDYEFKCKPGDPSRRPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLASDAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPG
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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 (5) 1 (2) 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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top