Evidence Details for ALOX12


Gene Symbol: | ALOX12 ( 12-LOX,12S-LOX,LOG12 ) |
---|---|
Gene Full Name: | arachidonate 12-lipoxygenase |
Band: | 17p13.1 |
Quick Links | Entrez ID:239; OMIM: 152391; Uniprot ID:LOX12_HUMAN; ENSEMBL ID: ENSG00000108839; HGNC ID: 429 |
Relate to Another Database: | SFARIGene; denovo-db |


>ALOX12|239|nucleotide
ATGGGCCGCTACCGCATCCGCGTGGCCACCGGGGCCTGGCTCTTCTCCGGGTCGTACAACCGCGTGCAGCTTTGGCTGGTCGGGACGCGCGGGGAGGCGGAGCTG
GAGCTGCAGCTGCGGCCCGCGCGGGGCGAGGAGGAGGAGTTTGATCATGACGTTGCAGAGGACTTGGGGCTCCTGCAGTTCGTGAGGCTGCGCAAGCACCACTGG
CTGGTGGACGACGCGTGGTTCTGCGACCGCATCACGGTGCAGGGCCCTGGAGCCTGCGCGGAGGTGGCCTTCCCGTGCTACCGCTGGGTGCAGGGCGAGGACATC
CTGAGCCTGCCCGAGGGCACCGCCCGCCTGCCAGGAGACAATGCTTTGGACATGTTCCAGAAGCATCGAGAGAAGGAACTGAAAGACAGACAGCAGATCTACTGC
TGGGCCACCTGGAAGGAAGGGTTACCCCTGACCATCGCTGCAGACCGTAAGGATGATCTACCTCCAAATATGAGATTCCATGAGGAGAAGAGGCTGGACTTTGAA
TGGACACTGAAGGCAGGGGCTCTGGAGATGGCCCTCAAACGTGTTTACACCCTCCTGAGCTCCTGGAACTGCCTAGAAGACTTTGATCAGATCTTCTGGGGCCAG
AAGAGTGCCCTGGCTGAGAAGGTTCGCCAGTGCTGGCAGGATGATGAGTTGTTCAGCTACCAGTTCCTCAATGGTGCCAACCCCATGCTGTTGAGACGCTCGACC
TCTCTGCCCTCCAGGCTAGTGCTGCCCTCGGGGATGGAAGAGCTTCAGGCTCAACTGGAGAAAGAACTTCAGAATGGTTCCCTGTTTGAAGCTGACTTCATCCTT
CTGGATGGAATTCCAGCCAACGTGATCCGAGGAGAGAAGCAATACCTGGCTGCCCCCCTCGTTATGCTGAAGATGGAGCCCAATGGGAAGCTGCAGCCCATGGTC
ATCCAGATTCAGCCTCCCAACCCCAGCTCTCCAACCCCAACACTGTTCCTGCCCTCAGACCCCCCACTTGCCTGGCTCCTGGCAAAGTCCTGGGTCCGAAATTCA
GATTTCCAACTGCACGAGATCCAGTATCACTTGCTGAACACTCACCTGGTGGCTGAGGTCATCGCTGTCGCCACCATGCGGTGCCTCCCAGGACTGCACCCCATC
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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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MGRYRIRVATGAWLFSGSYNRVQLWLVGTRGEAELELQLRPARGEEEEFDHDVAEDLGLLQFVRLRKHHWLVDDAWFCDRITVQGPGACAEVAFPCYRWVQGEDI
LSLPEGTARLPGDNALDMFQKHREKELKDRQQIYCWATWKEGLPLTIAADRKDDLPPNMRFHEEKRLDFEWTLKAGALEMALKRVYTLLSSWNCLEDFDQIFWGQ
KSALAEKVRQCWQDDELFSYQFLNGANPMLLRRSTSLPSRLVLPSGMEELQAQLEKELQNGSLFEADFILLDGIPANVIRGEKQYLAAPLVMLKMEPNGKLQPMV
IQIQPPNPSSPTPTLFLPSDPPLAWLLAKSWVRNSDFQLHEIQYHLLNTHLVAEVIAVATMRCLPGLHPIFKFLIPHIRYTMEINTRARTQLISDGGIFDKAVST
GGGGHVQLLRRAAAQLTYCSLCPPDDLADRGLLGLPGALYAHDALRLWEIIARYVEGIVHLFYQRDDIVKGDPELQAWCREITEVGLCQAQDRGFPVSFQSQSQL
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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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Bremer, 2011 | - | aCGH | ![]() | ![]() | ASD | - | - | - | - | 223 | - | 223 |
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Lamb, 2005 | - | microsatellite-based genomic screen | ![]() | ![]() | autism | 207 | - | 207 | - | 420 | - | - |






Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |






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