AutismKB 2.0

Evidence Details for LOXL2


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Basic Information Top
Gene Symbol:LOXL2 ( LOR2,WS9-14 )
Gene Full Name: lysyl oxidase-like 2
Band: 8p21.3
Quick LinksEntrez ID:4017; OMIM: 606663; Uniprot ID:LOXL2_HUMAN; ENSEMBL ID: ENSG00000134013; HGNC ID: 6666
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LOXL2|4017|nucleotide
ATGGAGAGGCCTCTGTGCTCCCACCTCTGCAGCTGCCTGGCTATGCTGGCCCTCCTGTCCCCCCTGAGCCTGGCACAGTATGACAGCTGGCCCCATTACCCCGAG
TACTTCCAGCAACCGGCTCCTGAGTATCACCAGCCCCAGGCCCCCGCCAACGTGGCCAAGATTCAGCTGCGCCTGGCTGGGCAGAAGAGGAAGCACAGCGAGGGC
CGGGTGGAGGTGTACTATGATGGCCAGTGGGGCACCGTGTGCGATGACGACTTCTCCATCCACGCTGCCCACGTCGTCTGCCGGGAGCTGGGCTACGTGGAGGCC
AAGTCCTGGACTGCCAGCTCCTCCTACGGCAAGGGAGAAGGGCCCATCTGGTTAGACAATCTCCACTGTACTGGCAACGAGGCGACCCTTGCAGCATGCACCTCC
AATGGCTGGGGCGTCACTGACTGCAAGCACACGGAGGATGTCGGTGTGGTGTGCAGCGACAAAAGGATTCCTGGGTTCAAATTTGACAATTCGTTGATCAACCAG
ATAGAGAACCTGAATATCCAGGTGGAGGACATTCGGATTCGAGCCATCCTCTCAACCTACCGCAAGCGCACCCCAGTGATGGAGGGCTACGTGGAGGTGAAGGAG
GGCAAGACCTGGAAGCAGATCTGTGACAAGCACTGGACGGCCAAGAATTCCCGCGTGGTCTGCGGCATGTTTGGCTTCCCTGGGGAGAGGACATACAATACCAAA
GTGTACAAAATGTTTGCCTCACGGAGGAAGCAGCGCTACTGGCCATTCTCCATGGACTGCACCGGCACAGAGGCCCACATCTCCAGCTGCAAGCTGGGCCCCCAG
GTGTCACTGGACCCCATGAAGAATGTCACCTGCGAGAATGGGCTACCGGCCGTGGTGAGTTGTGTGCCTGGGCAGGTCTTCAGCCCTGACGGACCCTCAAGATTC
CGGAAAGCGTACAAGCCAGAGCAACCCCTGGTGCGACTGAGAGGCGGTGCCTACATCGGGGAGGGCCGCGTGGAGGTGCTCAAAAATGGAGAATGGGGGACCGTC
TGCGACGACAAGTGGGACCTGGTGTCGGCCAGTGTGGTCTGCAGAGAGCTGGGCTTTGGGAGTGCCAAAGAGGCAGTCACTGGCTCCCGACTGGGGCAAGGGATC
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>LOXL2|4017|protein
MERPLCSHLCSCLAMLALLSPLSLAQYDSWPHYPEYFQQPAPEYHQPQAPANVAKIQLRLAGQKRKHSEGRVEVYYDGQWGTVCDDDFSIHAAHVVCRELGYVEA
KSWTASSSYGKGEGPIWLDNLHCTGNEATLAACTSNGWGVTDCKHTEDVGVVCSDKRIPGFKFDNSLINQIENLNIQVEDIRIRAILSTYRKRTPVMEGYVEVKE
GKTWKQICDKHWTAKNSRVVCGMFGFPGERTYNTKVYKMFASRRKQRYWPFSMDCTGTEAHISSCKLGPQVSLDPMKNVTCENGLPAVVSCVPGQVFSPDGPSRF
RKAYKPEQPLVRLRGGAYIGEGRVEVLKNGEWGTVCDDKWDLVSASVVCRELGFGSAKEAVTGSRLGQGIGPIHLNEIQCTGNEKSIIDCKFNAESQGCNHEEDA
GVRCNTPAMGLQKKLRLNGGRNPYEGRVEVLVERNGSLVWGMVCGQNWGIVEAMVVCRQLGLGFASNAFQETWYWHGDVNSNKVVMSGVKCSGTELSLAHCRHDG
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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 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top