AutismKB 2.0

Evidence Details for LMF2


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Basic Information Top
Gene Symbol:LMF2 ( TMEM112B,TMEM153 )
Gene Full Name: lipase maturation factor 2
Band: 22q13.33
Quick LinksEntrez ID:91289; OMIM: NA; Uniprot ID:LMF2_HUMAN; ENSEMBL ID: ENSG00000100258; HGNC ID: 25096
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LMF2|91289|nucleotide
ATGGCGGGCTCCCGGCTCCCGCGGCAGCTCTTCCTCCAGGGCGTGGCGGCCGTCTTCATGTTTGCTTTCGCTTCCCTCTACACGCAAATCCCAGGCCTGTATGGC
CCCGAGGGCATCCTACCTGCAAGGAGGACGCTGCGGCCTCAGGGCAAGGGGCGCTGGCAGCAGCTGTGGGAGACCCCGACGCTGCTGTGGGAAGCGCCGAGACTG
GGGCTGGACACGGCCCAGGGCCTGGAGCTGCTGAGCCTGCTGGGTGCACTAGTGGCCCTGGGAGCCCTGCTGCTGAGCCCACTGCGCCACCCTGTCATCTACTTG
CTGCTTTGGGCCGCCTACCTGTCAGCCTGCCAGGTGGGCCAGGTGTTCCTTTATTTCCAGTGGGACTCCCTGCTGCTAGAGACTGGCTTCCTGGCCGTGCTGGTG
GCCCCGCTGAGGCCAGCCTCCCACCGCAAGGAGGCCCCCCAGGGCAGGCAGGCAGGGGCCCTGCCCCACGAAGACCTCCCCTTCTGGCTGGTGCGATGGCTGCTG
TTCCGCCTCATGTTCGCCTCAGGCGTGGTCAAGCTGACCAGCCGCTGCCCTGCGTGGTGGGGGCTCACTGCCCTCACCTACCACTACGAGACCCAGTGCCTGCCC
ACGCCCGCCGCCTGGTTCGCACACCACCTGCCGGTCTGGCTGCACAAGCTCAGCGTGGTGGCCACCTTCCTAATTGAGATCGCTGTGCCGCCCCTGTTCTTCGCC
CCCATTCGACGCCTGCGCTTGGCTGCTTTCTACTCGCAGGTGCTGCTGCAGGTCCTGATTATCATCACCGGCAACTACAACTTCTTCAACCTGATGACGCTGGTG
CTTACCACTGCGCTGCTGGACGACCAGCACCTGGCTGCTGAGCCTGGCCACGGCAGCCGCAAGAAGACGGCCACCTCCTGGCCCAAGGCCCTGCTGGCCACCCTG
TCGCTGCTGCTGGAACTAGCCGTCTACGGGCTTCTGGCCTATGGCACTGTGCACTACTTTGGCCTGGAGGTTGACTGGCAGCAGCGCACCATCCACTCCAGAACC
ACTTTCACCTTCCACCAGTTTTCTCAGTGGCTGAAGACACTGACGCTGCCCACTGTGTGGCTGGGTGTGGCCTCCCTGGTCTGGGAGCTGCTGAGTGCCCTGTGG
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>LMF2|91289|protein
MAGSRLPRQLFLQGVAAVFMFAFASLYTQIPGLYGPEGILPARRTLRPQGKGRWQQLWETPTLLWEAPRLGLDTAQGLELLSLLGALVALGALLLSPLRHPVIYL
LLWAAYLSACQVGQVFLYFQWDSLLLETGFLAVLVAPLRPASHRKEAPQGRQAGALPHEDLPFWLVRWLLFRLMFASGVVKLTSRCPAWWGLTALTYHYETQCLP
TPAAWFAHHLPVWLHKLSVVATFLIEIAVPPLFFAPIRRLRLAAFYSQVLLQVLIIITGNYNFFNLMTLVLTTALLDDQHLAAEPGHGSRKKTATSWPKALLATL
SLLLELAVYGLLAYGTVHYFGLEVDWQQRTIHSRTTFTFHQFSQWLKTLTLPTVWLGVASLVWELLSALWRWTQVRGWLRKLSAVVQLSLVGTATVALFLISLVP
YSYVEPGTHGRLWTGAHRLFGAVEHLQLANSYGLFRRMTGLGGRPEVVLEGSYDGHHWTEIEFMYKPGNLSRPPPVVVPHQPRLDWQMWFAALGPHTHSPWFTSL
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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) 2 (9) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (9)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018