AutismKB 2.0

Evidence Details for CYP26B1


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Basic Information Top
Gene Symbol:CYP26B1 ( CYP26A2,DKFZp686G0638,MGC129613,P450RAI-2 )
Gene Full Name: cytochrome P450, family 26, subfamily B, polypeptide 1
Band: 2p13.2
Quick LinksEntrez ID:56603; OMIM: 605207; Uniprot ID:CP26B_HUMAN; ENSEMBL ID: ENSG00000003137; HGNC ID: 20581
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP26B1|56603|nucleotide
ATGCTCTTTGAGGGCTTGGATCTGGTGTCGGCGCTGGCCACCCTCGCCGCGTGCCTGGTGTCCGTGACGCTGCTGCTGGCCGTGTCGCAGCAGCTGTGGCAGCTG
CGCTGGGCCGCCACTCGCGACAAGAGCTGCAAGCTGCCCATCCCCAAGGGATCCATGGGCTTCCCGCTCATCGGAGAGACCGGCCACTGGCTGCTGCAGGGTTCT
GGCTTCCAGTCGTCGCGGAGGGAGAAGTATGGCAACGTGTTCAAGACGCATTTGTTGGGGCGGCCGCTGATACGCGTGACCGGCGCGGAGAACGTGCGCAAGATC
CTCATGGGCGAGCACCACCTCGTGAGCACCGAGTGGCCTCGCAGCACCCGCATGTTGCTGGGCCCCAACACGGTGTCCAATTCCATTGGCGACATCCACCGCAAC
AAGCGCAAGGTCTTCTCCAAGATCTTCAGCCACGAGGCCCTGGAGAGTTACCTGCCCAAGATCCAGCTGGTGATCCAGGACACACTGCGCGCCTGGAGCAGCCAC
CCCGAGGCCATCAACGTGTACCAGGAGGCGCAGAAGCTGACCTTCCGCATGGCCATCCGGGTGCTGCTGGGCTTCAGCATCCCTGAGGAGGACCTTGGGCACCTC
TTTGAGGTCTACCAGCAGTTTGTGGACAATGTCTTCTCCCTGCCTGTCGACCTGCCCTTCAGTGGCTACCGGCGGGGCATTCAGGCTCGGCAGATCCTGCAGAAG
GGGCTGGAGAAGGCCATCCGGGAGAAGCTGCAGTGCACACAGGGCAAGGACTACTTGGACGCCCTGGACCTCCTCATTGAGAGCAGCAAGGAGCACGGGAAGGAG
ATGACCATGCAGGAGCTGAAGGACGGGACCCTGGAGCTGATCTTTGCGGCCTATGCCACCACGGCCAGCGCCAGCACCTCACTCATCATGCAGCTGCTGAAGCAC
CCCACTGTGCTGGAGAAGCTGCGGGATGAGCTGCGGGCTCATGGCATCCTGCACAGTGGCGGCTGCCCCTGCGAGGGCACACTGCGCCTGGACACGCTCAGTGGG
CTGCGCTACCTGGACTGCGTCATCAAGGAGGTCATGCGCCTGTTCACGCCCATTTCCGGCGGCTACCGCACTGTGCTGCAGACCTTCGAGCTTGATGGTTTCCAG
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>CYP26B1|56603|protein
MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKSCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVFKTHLLGRPLIRVTGAENVRKI
LMGEHHLVSTEWPRSTRMLLGPNTVSNSIGDIHRNKRKVFSKIFSHEALESYLPKIQLVIQDTLRAWSSHPEAINVYQEAQKLTFRMAIRVLLGFSIPEEDLGHL
FEVYQQFVDNVFSLPVDLPFSGYRRGIQARQILQKGLEKAIREKLQCTQGKDYLDALDLLIESSKEHGKEMTMQELKDGTLELIFAAYATTASASTSLIMQLLKH
PTVLEKLRDELRAHGILHSGGCPCEGTLRLDTLSGLRYLDCVIKEVMRLFTPISGGYRTVLQTFELDGFQIPKGWSVMYSIRDTHDTAPVFKDVNVFDPDRFSQA
RSEDKDGRFHYLPFGGGVRTCLGKHLAKLFLKVLAVELASTSRFELATRTFPRITLVPVLHPVDGLSVKFFGLDSNQNEILPETEAMLSATV
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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) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018