AutismKB 2.0

Evidence Details for CYP11B1


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Basic Information Top
Gene Symbol:CYP11B1 ( CPN1,CYP11B,DKFZp686B05283,FHI,FLJ36771,P450C11 )
Gene Full Name: cytochrome P450, family 11, subfamily B, polypeptide 1
Band: 8q24.3
Quick LinksEntrez ID:1584; OMIM: 610613; Uniprot ID:C11B1_HUMAN; ENSEMBL ID: ENSG00000160882; HGNC ID: 2591
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP11B1|1584|nucleotide
ATGGCACTCAGGGCAAAGGCAGAGGTGTGCATGGCAGTGCCCTGGCTGTCCCTGCAAAGGGCACAGGCACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTG
CTGCCCTTTGAAGCCATGCCCCGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGTTATGAGGACCTGCACCTGGAAGTACACCAG
ACCTTCCAGGAACTAGGGCCCATTTTCAGGTACGACTTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTGCAACAGGTGGACAGC
CTGCATCCCCACAGGATGAGCCTGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAAATGTGGCGTGTTCTTGCTGAATGGGCCTGAATGGCGCTTCAAC
CGATTGCGGCTGAATCCAGAAGTGCTGTCGCCCAACGCTGTGCAGAGGTTCCTCCCGATGGTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGAAGAAGAAG
GTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTACACCATAGAAGCCAGCAACTTGGCTCTTTTTGGAGAGCGGCTGGGC
CTGGTTGGCCACAGCCCCAGTTCTGCCAGCCTGAACTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAGGAGCCTGTCT
CGCTGGACCAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTC
AGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTGAATGCGGAACTGTCGCCAGATGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGC
GTGGACACGACGGTGTTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCAACGTGCAGCAGGCCCTGCGCCAGGAGAGCCTGGCCGCCGCAGCCAGC
ATCAGTGAACATCCCCAGAAGGCAACCACCGAGCTGCCCTTGCTGCGTGCGGCCCTCAAGGAGACCTTGCGGCTCTACCCTGTGGGTCTGTTTCTGGAGCGAGTG
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>CYP11B1|1584|protein
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDS
LHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLG
LVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGS
VDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRP
ERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN
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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 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top