AutismKB 2.0

Evidence Details for CYP4F11


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Basic Information Top
Gene Symbol:CYP4F11 ( CYPIVF11 )
Gene Full Name: cytochrome P450, family 4, subfamily F, polypeptide 11
Band: 19p13.12
Quick LinksEntrez ID:57834; OMIM: 611517; Uniprot ID:CP4FB_HUMAN; ENSEMBL ID: ENSG00000171903; HGNC ID: 13265
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP4F11|57834|nucleotide
ATGCCGCAGCTGAGCCTGTCCTGGCTGGGCCTCGGGCCCGTGGCAGCATCCCCGTGGCTGCTTCTGCTGCTGGTTGGGGGCTCCTGGCTCCTGGCCCGCGTCCTG
GCCTGGACCTACACCTTCTATGACAACTGCCGCCGCCTCCAGTGTTTTCCTCAACCCCCGAAACAGAACTGGTTTTGGGGACACCAGGGCCTGGTCACTCCCACG
GAAGAGGGCATGAAGACATTGACCCAGCTGGTGACCACATATCCCCAGGGCTTTAAGTTGTGGCTGGGTCCTACCTTCCCCCTCCTCATTTTATGCCACCCTGAC
ATTATCCGGCCTATCACCAGTGCCTCAGCTGCTGTCGCACCCAAGGATATGATTTTCTATGGCTTCCTGAAGCCCTGGCTGGGGGATGGGCTCCTGCTGAGTGGT
GGTGACAAGTGGAGCCGCCACCGTCGGATGTTGACGCCTGCCTTCCATTTCAACATCTTGAAGCCTTATATGAAGATTTTCAACAAGAGTGTGAACATCATGCAC
GACAAGTGGCAGCGCCTGGCCTCAGAGGGCAGCGCCAGACTGGACATGTTTGAACACATCAGCCTCATGACCTTGGACAGTCTGCAGAAATGTGTCTTCAGCTTT
GAAAGCAATTGTCAGGAGAAGCCCAGTGAATATATTGCCGCCATCTTGGAGCTCAGTGCCTTTGTAGAAAAGAGAAACCAGCAGATTCTCTTGCACACGGACTTC
CTGTATTATCTCACTCCTGATGGGCAGCGCTTCCGCAGGGCCTGCCACCTGGTGCACGACTTCACAGATGCCGTCATCCAGGAGCGGCGCTGCACCCTCCCCACT
CAGGGTATTGATGATTTCCTCAAGAACAAGGCAAAGTCCAAGACTTTAGACTTCATTGATGTGCTTCTGCTGAGCAAGGATGAAGATGGGAAGGAATTGTCTGAT
GAGGACATAAGAGCAGAAGCTGACACCTTCATGTTTGAGGGCCATGACACTACAGCCAGTGGTCTCTCCTGGGTCCTATACCACCTTGCAAAGCACCCAGAATAC
CAGGAACAGTGCCGGCAAGAAGTGCAAGAGCTTCTGAAGGACCGTGAACCTATAGAGATTGAATGGGACGACCTGGCCCAGCTGCCCTTCCTGACCATGTGCATT
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>CYP4F11|57834|protein
MPQLSLSWLGLGPVAASPWLLLLLVGGSWLLARVLAWTYTFYDNCRRLQCFPQPPKQNWFWGHQGLVTPTEEGMKTLTQLVTTYPQGFKLWLGPTFPLLILCHPD
IIRPITSASAAVAPKDMIFYGFLKPWLGDGLLLSGGDKWSRHRRMLTPAFHFNILKPYMKIFNKSVNIMHDKWQRLASEGSARLDMFEHISLMTLDSLQKCVFSF
ESNCQEKPSEYIAAILELSAFVEKRNQQILLHTDFLYYLTPDGQRFRRACHLVHDFTDAVIQERRCTLPTQGIDDFLKNKAKSKTLDFIDVLLLSKDEDGKELSD
EDIRAEADTFMFEGHDTTASGLSWVLYHLAKHPEYQEQCRQEVQELLKDREPIEIEWDDLAQLPFLTMCIKESLRLHPPVPVISRCCTQDFVLPDGRVIPKGIVC
LINIIGIHYNPTVWPDPEVYDPFRFDQENIKERSPLAFIPFSAGPRNCIGQAFAMAEMKVVLALTLLHFRILPTHTEPRRKPELILRAEGGLWLRVEPLGANSQ
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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) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Philippe, 1999 Sweden, France, Norway, Italy, Austria, Belgium, U microsatellite-based genomic screenautism 51 - 51 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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