AutismKB 2.0

Evidence Details for CYP39A1


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Basic Information Top
Gene Symbol:CYP39A1 ( - )
Gene Full Name: cytochrome P450, family 39, subfamily A, polypeptide 1
Band: 6p12.3
Quick LinksEntrez ID:51302; OMIM: 605994; Uniprot ID:CP39A_HUMAN; ENSEMBL ID: ENSG00000146233; HGNC ID: 17449
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP39A1|51302|nucleotide
ATGGAACTAATTTCCCCAACAGTGATTATAATCCTGGGTTGCCTTGCTCTGTTCTTACTCCTTCAGCGGAAGAATTTGCGTAGACCCCCGTGCATCAAGGGCTGG
ATTCCTTGGATTGGAGTTGGATTTGAGTTTGGGAAAGCCCCTCTAGAATTTATAGAGAAAGCAAGAATCAAGTATGGACCAATATTTACAGTCTTTGCTATGGGA
AACCGAATGACCTTTGTTACTGAAGAAGAAGGAATTAATGTGTTTCTAAAATCCAAAAAAGTAGATTTTGAACTAGCAGTGCAAAATATCGTTTATCGTACAGCA
TCAATTCCAAAGAATGTCTTTTTAGCACTGCATGAAAAACTCTATATTATGTTGAAAGGGAAAATGGGGACTGTCAATCTCCATCAGTTTACTGGGCAACTGACT
GAAGAATTACATGAACAACTGGAGAATTTAGGCACTCATGGGACAATGGACCTGAACAACTTAGTAAGACATCTCCTTTATCCAGTCACAGTGAATATGCTCTTT
AATAAAAGTTTGTTTTCCACAAACAAGAAAAAAATCAAGGAGTTCCATCAGTATTTTCAAGTTTATGATGAAGATTTTGAGTATGGGTCCCAGTTGCCAGAGTGT
CTTCTAAGAAACTGGTCAAAATCCAAAAAGTGGTTCCTGGAACTGTTTGAGAAAAACATTCCAGATATAAAAGCATGTAAATCTGCAAAAGATAATTCCATGACA
TTATTGCAAGCTACGCTGGATATTGTAGAGACGGAAACAAGTAAGGAAAACTCACCCAATTATGGGCTCTTACTGCTTTGGGCTTCTCTGTCTAATGCTGTTCCT
GTTGCATTTTGGACACTTGCATACGTCCTTTCTCATCCTGATATCCACAAGGCCATTATGGAAGGCATATCTTCTGTGTTTGGCAAAGCAGGCAAAGATAAGATT
AAAGTGTCTGAGGATGACCTGGAGAATCTCCTTCTAATTAAATGGTGTGTTTTGGAAACCATTCGTTTAAAAGCTCCTGGTGTCATTACTAGAAAAGTGGTGAAG
CCTGTGGAAATTTTGAATTACATCATTCCTTCTGGTGACTTGTTGATGTTGTCTCCATTTTGGCTGCATAGAAATCCAAAGTATTTTCCTGAGCCTGAATTGTTC
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>CYP39A1|51302|protein
MELISPTVIIILGCLALFLLLQRKNLRRPPCIKGWIPWIGVGFEFGKAPLEFIEKARIKYGPIFTVFAMGNRMTFVTEEEGINVFLKSKKVDFELAVQNIVYRTA
SIPKNVFLALHEKLYIMLKGKMGTVNLHQFTGQLTEELHEQLENLGTHGTMDLNNLVRHLLYPVTVNMLFNKSLFSTNKKKIKEFHQYFQVYDEDFEYGSQLPEC
LLRNWSKSKKWFLELFEKNIPDIKACKSAKDNSMTLLQATLDIVETETSKENSPNYGLLLLWASLSNAVPVAFWTLAYVLSHPDIHKAIMEGISSVFGKAGKDKI
KVSEDDLENLLLIKWCVLETIRLKAPGVITRKVVKPVEILNYIIPSGDLLMLSPFWLHRNPKYFPEPELFKPERWKKANLEKHSFLDCFMAFGSGKFQCPARWFA
LLEVQMCIILILYKYDCSLLDPLPKQSYLHLVGVPQPEGQCRIEYKQRI
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top