AutismKB 2.0

Evidence Details for ALOX12


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Basic Information Top
Gene Symbol:ALOX12 ( 12-LOX,12S-LOX,LOG12 )
Gene Full Name: arachidonate 12-lipoxygenase
Band: 17p13.1
Quick LinksEntrez ID:239; OMIM: 152391; Uniprot ID:LOX12_HUMAN; ENSEMBL ID: ENSG00000108839; HGNC ID: 429
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALOX12|239|nucleotide
ATGGGCCGCTACCGCATCCGCGTGGCCACCGGGGCCTGGCTCTTCTCCGGGTCGTACAACCGCGTGCAGCTTTGGCTGGTCGGGACGCGCGGGGAGGCGGAGCTG
GAGCTGCAGCTGCGGCCCGCGCGGGGCGAGGAGGAGGAGTTTGATCATGACGTTGCAGAGGACTTGGGGCTCCTGCAGTTCGTGAGGCTGCGCAAGCACCACTGG
CTGGTGGACGACGCGTGGTTCTGCGACCGCATCACGGTGCAGGGCCCTGGAGCCTGCGCGGAGGTGGCCTTCCCGTGCTACCGCTGGGTGCAGGGCGAGGACATC
CTGAGCCTGCCCGAGGGCACCGCCCGCCTGCCAGGAGACAATGCTTTGGACATGTTCCAGAAGCATCGAGAGAAGGAACTGAAAGACAGACAGCAGATCTACTGC
TGGGCCACCTGGAAGGAAGGGTTACCCCTGACCATCGCTGCAGACCGTAAGGATGATCTACCTCCAAATATGAGATTCCATGAGGAGAAGAGGCTGGACTTTGAA
TGGACACTGAAGGCAGGGGCTCTGGAGATGGCCCTCAAACGTGTTTACACCCTCCTGAGCTCCTGGAACTGCCTAGAAGACTTTGATCAGATCTTCTGGGGCCAG
AAGAGTGCCCTGGCTGAGAAGGTTCGCCAGTGCTGGCAGGATGATGAGTTGTTCAGCTACCAGTTCCTCAATGGTGCCAACCCCATGCTGTTGAGACGCTCGACC
TCTCTGCCCTCCAGGCTAGTGCTGCCCTCGGGGATGGAAGAGCTTCAGGCTCAACTGGAGAAAGAACTTCAGAATGGTTCCCTGTTTGAAGCTGACTTCATCCTT
CTGGATGGAATTCCAGCCAACGTGATCCGAGGAGAGAAGCAATACCTGGCTGCCCCCCTCGTTATGCTGAAGATGGAGCCCAATGGGAAGCTGCAGCCCATGGTC
ATCCAGATTCAGCCTCCCAACCCCAGCTCTCCAACCCCAACACTGTTCCTGCCCTCAGACCCCCCACTTGCCTGGCTCCTGGCAAAGTCCTGGGTCCGAAATTCA
GATTTCCAACTGCACGAGATCCAGTATCACTTGCTGAACACTCACCTGGTGGCTGAGGTCATCGCTGTCGCCACCATGCGGTGCCTCCCAGGACTGCACCCCATC
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>ALOX12|239|protein
MGRYRIRVATGAWLFSGSYNRVQLWLVGTRGEAELELQLRPARGEEEEFDHDVAEDLGLLQFVRLRKHHWLVDDAWFCDRITVQGPGACAEVAFPCYRWVQGEDI
LSLPEGTARLPGDNALDMFQKHREKELKDRQQIYCWATWKEGLPLTIAADRKDDLPPNMRFHEEKRLDFEWTLKAGALEMALKRVYTLLSSWNCLEDFDQIFWGQ
KSALAEKVRQCWQDDELFSYQFLNGANPMLLRRSTSLPSRLVLPSGMEELQAQLEKELQNGSLFEADFILLDGIPANVIRGEKQYLAAPLVMLKMEPNGKLQPMV
IQIQPPNPSSPTPTLFLPSDPPLAWLLAKSWVRNSDFQLHEIQYHLLNTHLVAEVIAVATMRCLPGLHPIFKFLIPHIRYTMEINTRARTQLISDGGIFDKAVST
GGGGHVQLLRRAAAQLTYCSLCPPDDLADRGLLGLPGALYAHDALRLWEIIARYVEGIVHLFYQRDDIVKGDPELQAWCREITEVGLCQAQDRGFPVSFQSQSQL
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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 (3) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (5)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top