AutismKB 2.0

Evidence Details for CYP1B1


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Basic Information Top
Gene Symbol:CYP1B1 ( CP1B,GLC3A,P4501B1 )
Gene Full Name: cytochrome P450, family 1, subfamily B, polypeptide 1
Band: 2p22.2
Quick LinksEntrez ID:1545; OMIM: 601771; Uniprot ID:CP1B1_HUMAN; ENSEMBL ID: ENSG00000138061; HGNC ID: 2597
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP1B1|1545|nucleotide
ATGGGCACCAGCCTCAGCCCGAACGACCCTTGGCCGCTAAACCCGCTGTCCATCCAGCAGACCACGCTCCTGCTACTCCTGTCGGTGCTGGCCACTGTGCATGTG
GGCCAGCGGCTGCTGAGGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCT
CACCTCTCGTTCGCTCGCCTGGCGCGGCGCTACGGCGACGTTTTCCAGATCCGCCTGGGCAGCTGCCCCATAGTGGTGCTGAATGGCGAGCGCGCCATCCACCAG
GCCCTGGTGCAGCAGGGCTCGGCCTTCGCCGACCGGCCGGCCTTCGCCTCCTTCCGTGTGGTGTCCGGCGGCCGCAGCATGGCTTTCGGCCACTACTCGGAGCAC
TGGAAGGTGCAGCGGCGCGCAGCCCACAGCATGATGCGCAACTTCTTCACGCGCCAGCCGCGCAGCCGCCAAGTCCTCGAGGGCCACGTGCTGAGCGAGGCGCGC
GAGCTGGTGGCGCTGCTGGTGCGCGGCAGCGCGGACGGCGCCTTCCTCGACCCGAGGCCGCTGACCGTCGTGGCCGTGGCCAACGTCATGAGTGCCGTGTGTTTC
GGCTGCCGCTACAGCCACGACGACCCCGAGTTCCGTGAGCTGCTCAGCCACAACGAAGAGTTCGGGCGCACGGTGGGCGCGGGCAGCCTGGTGGACGTGATGCCC
TGGCTGCAGTACTTCCCCAACCCGGTGCGCACCGTTTTCCGCGAATTCGAGCAGCTCAACCGCAACTTCAGCAACTTCATCCTGGACAAGTTCTTGAGGCACTGC
GAAAGCCTTCGGCCCGGGGCCGCCCCCCGCGACATGATGGACGCCTTTATCCTCTCTGCGGAAAAGAAGGCGGCCGGGGACTCGCACGGTGGTGGCGCGCGGCTG
GATTTGGAGAACGTACCGGCCACTATCACTGACATCTTCGGCGCCAGCCAGGACACCCTGTCCACCGCGCTGCAGTGGCTGCTCCTCCTCTTCACCAGGTATCCT
GATGTGCAGACTCGAGTGCAGGCAGAATTGGATCAGGTCGTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCTTCCTT
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>CYP1B1|1545|protein
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGERAIHQ
ALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCF
GCRYSHDDPEFRELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARL
DLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIPHATTANTSVLGYHIPKDTVV
FVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRES
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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top