AutismKB 2.0

Evidence Details for CYP1A2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CYP1A2 ( CP12,P3-450,P450(PA) )
Gene Full Name: cytochrome P450, family 1, subfamily A, polypeptide 2
Band: 15q24.1
Quick LinksEntrez ID:1544; OMIM: 124060; Uniprot ID:CP1A2_HUMAN; ENSEMBL ID: ENSG00000140505; HGNC ID: 2596
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP1A2|1544|nucleotide
ATGGCATTGTCCCAGTCTGTTCCCTTCTCGGCCACAGAGCTTCTCCTGGCCTCTGCCATCTTCTGCCTGGTATTCTGGGTGCTCAAGGGTTTGAGGCCTCGGGTC
CCCAAAGGCCTGAAAAGTCCACCAGAGCCATGGGGCTGGCCCTTGCTCGGGCATGTGCTGACCCTGGGGAAGAACCCGCACCTGGCACTGTCAAGGATGAGCCAG
CGCTACGGGGACGTCCTGCAGATCCGCATTGGCTCCACGCCCGTGCTGGTGCTGAGCCGCCTGGACACCATCCGGCAGGCCCTGGTGCGGCAGGGCGACGATTTC
AAGGGCCGGCCTGACCTCTACACCTCCACCCTCATCACTGATGGCCAGAGCTTGACCTTCAGCACAGACTCTGGACCGGTGTGGGCTGCCCGCCGGCGCCTGGCC
CAGAATGCCCTCAACACCTTCTCCATCGCCTCTGACCCAGCTTCCTCATCCTCCTGCTACCTGGAGGAGCATGTGAGCAAGGAGGCTAAGGCCCTGATCAGCAGG
TTGCAGGAGCTGATGGCAGGGCCTGGGCACTTCGACCCTTACAATCAGGTGGTGGTGTCAGTGGCCAACGTCATTGGTGCCATGTGCTTCGGACAGCACTTCCCT
GAGAGTAGCGATGAGATGCTCAGCCTCGTGAAGAACACTCATGAGTTCGTGGAGACTGCCTCCTCCGGGAACCCCCTGGACTTCTTCCCCATCCTTCGCTACCTG
CCTAACCCTGCCCTGCAGAGGTTCAAGGCCTTCAACCAGAGGTTCCTGTGGTTCCTGCAGAAAACAGTCCAGGAGCACTATCAGGACTTTGACAAGAACAGTGTC
CGGGACATCACGGGTGCCCTGTTCAAGCACAGCAAGAAGGGGCCTAGAGCCAGCGGCAACCTCATCCCACAGGAGAAGATTGTCAACCTTGTCAATGACATCTTT
GGAGCAGGATTTGACACAGTCACCACAGCCATCTCCTGGAGCCTCATGTACCTTGTGACCAAGCCTGAGATACAGAGGAAGATCCAGAAGGAGCTGGACACTGTG
ATTGGCAGGGAGCGGCGGCCCCGGCTCTCTGACAGACCCCAGCTGCCCTACTTGGAGGCCTTCATCCTGGAGACCTTCCGACACTCCTCCTTCTTGCCCTTCACC
Show »

>CYP1A2|1544|protein
MALSQSVPFSATELLLASAIFCLVFWVLKGLRPRVPKGLKSPPEPWGWPLLGHVLTLGKNPHLALSRMSQRYGDVLQIRIGSTPVLVLSRLDTIRQALVRQGDDF
KGRPDLYTSTLITDGQSLTFSTDSGPVWAARRRLAQNALNTFSIASDPASSSSCYLEEHVSKEAKALISRLQELMAGPGHFDPYNQVVVSVANVIGAMCFGQHFP
ESSDEMLSLVKNTHEFVETASSGNPLDFFPILRYLPNPALQRFKAFNQRFLWFLQKTVQEHYQDFDKNSVRDITGALFKHSKKGPRASGNLIPQEKIVNLVNDIF
GAGFDTVTTAISWSLMYLVTKPEIQRKIQKELDTVIGRERRPRLSDRPQLPYLEAFILETFRHSSFLPFTIPHSTTRDTTLNGFYIPKKCCVFVNQWQVNHDPEL
WEDPSEFRPERFLTADGTAINKPLSEKMMLFGMGKRRCIGEVLAKWEIFLFLAILLQQLEFSVPPGVKVDLTPIYGLTMKHARCEHVQARLRFSIN
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top