AutismKB 2.0

Evidence Details for CYP2C18


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Basic Information Top
Gene Symbol:CYP2C18 ( CPCI,CYP2C,CYP2C17,DKFZp686I24235,P450-6B/29C,P450IIC17 )
Gene Full Name: cytochrome P450, family 2, subfamily C, polypeptide 18
Band: 10q23.33
Quick LinksEntrez ID:1562; OMIM: 601131; Uniprot ID:CP2CI_HUMAN; ENSEMBL ID: ENSG00000108242; HGNC ID: 2620
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP2C18|1562|nucleotide
ATGGATCCAGCTGTGGCTCTGGTGCTCTGTCTCTCCTGTTTGTTTCTCCTTTCACTCTGGAGGCAGAGCTCTGGAAGAGGGAGGCTCCCGTCTGGCCCCACTCCT
CTCCCGATTATTGGAAATATCCTGCAGTTAGATGTTAAGGACATGAGCAAATCCTTAACCAATTTCTCAAAAGTCTATGGCCCTGTGTTCACTGTGTATTTTGGC
CTGAAGCCCATTGTGGTGTTGCATGGATATGAAGCAGTGAAGGAGGCCCTGATTGATCATGGAGAGGAGTTTTCTGGAAGAGGAAGTTTTCCAGTGGCTGAAAAA
GTTAACAAAGGACTTGGAATCCTTTTCAGCAATGGAAAGAGATGGAAGGAGATCCGGCGTTTCTGCCTCATGACTCTGCGGAATTTTGGGATGGGGAAGAGGAGC
ATCGAGGACCGTGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAATGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGC
AATGTGATCTGCTCTGTTATTTTCCATGATCGATTTGATTATAAAGATCAGAGGTTTCTTAACTTGATGGAAAAATTCAATGAAAACCTCAGGATTCTGAGCTCT
CCATGGATCCAGGTCTGCAATAATTTCCCTGCTCTCATCGATTATCTCCCAGGAAGTCATAATAAAATAGCTGAAAATTTTGCTTACATTAAAAGTTATGTATTG
GAGAGAATAAAAGAACATCAAGAATCCCTGGACATGAACAGTGCTCGGGACTTTATTGATTGTTTCCTGATCAAAATGGAACAGGAAAAGCACAATCAACAGTCT
GAATTTACTGTTGAAAGCTTGATAGCCACTGTAACTGATATGTTTGGGGCTGGAACAGAGACAACGAGCACCACTCTGAGATATGGACTCCTGCTCCTGCTGAAG
TACCCAGAGGTCACAGCTAAAGTCCAGGAAGAGATTGAATGTGTAGTTGGCAGAAACCGGAGCCCCTGTATGCAGGACAGGAGTCACATGCCCTACACAGATGCT
GTGGTGCACGAGATCCAGAGATACATTGACCTCCTCCCCACCAACCTGCCCCATGCAGTGACCTGTGATGTTAAATTCAAAAACTACCTCATCCCCAAGGGCACG
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>CYP2C18|1562|protein
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDHGEEFSGRGSFPVAEK
VNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTNASPCDPTFILGCAPCNVICSVIFHDRFDYKDQRFLNLMEKFNENLRILSS
PWIQVCNNFPALIDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIKMEQEKHNQQSEFTVESLIATVTDMFGAGTETTSTTLRYGLLLLLK
YPEVTAKVQEEIECVVGRNRSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNYLIPKGTTIITSLTSVLHNDKEFPNPEMFDPGHFLDKSGNFK
KSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNLKSQVDPKDIDITPIANAFGRVPPLYQLCFIPV
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top