AutismKB 2.0

Evidence Details for CYP3A5


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Basic Information Top
Gene Symbol:CYP3A5 ( CP35,CYPIIIA5,DKFZp686L16231,FLJ31317,P450PCN3,PCN3 )
Gene Full Name: cytochrome P450, family 3, subfamily A, polypeptide 5
Band: 7q22.1
Quick LinksEntrez ID:1577; OMIM: 605325; Uniprot ID:CP3A5_HUMAN; ENSEMBL ID: ENSG00000106258; HGNC ID: 2638
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP3A5|1577|nucleotide
ATGGACCTCATCCCAAATTTGGCGGTGGAAACCTGGCTTCTCCTGGCTGTCAGCCTGGTGCTCCTCTATCTATATGGGACCCGTACACATGGACTTTTTAAGAGA
CTGGGAATTCCAGGGCCCACACCTCTGCCTTTGTTGGGAAATGTTTTGTCCTATCGTCAGGGTCTCTGGAAATTTGACACAGAGTGCTATAAAAAGTATGGAAAA
ATGTGGGGAACGTATGAAGGTCAACTCCCTGTGCTGGCCATCACAGATCCCGACGTGATCAGAACAGTGCTAGTGAAAGAATGTTATTCTGTCTTCACAAATCGA
AGGTCTTTAGGCCCAGTGGGATTTATGAAAAGTGCCATCTCTTTAGCTGAGGATGAAGAATGGAAGAGAATACGGTCATTGCTGTCTCCAACCTTCACCAGCGGA
AAACTCAAGGAGATGTTCCCCATCATTGCCCAGTATGGAGATGTATTGGTGAGAAACTTGAGGCGGGAAGCAGAGAAAGGCAAGCCTGTCACCTTGAAAGACATC
TTTGGGGCCTACAGCATGGATGTGATTACTGGCACATCATTTGGAGTGAACATCGACTCTCTCAACAATCCACAAGACCCCTTTGTGGAGAGCACTAAGAAGTTC
CTAAAATTTGGTTTCTTAGATCCATTATTTCTCTCAATAATACTCTTTCCATTCCTTACCCCAGTTTTTGAAGCATTAAATGTCTCTCTGTTTCCAAAAGATACC
ATAAATTTTTTAAGTAAATCTGTAAACAGAATGAAGAAAAGTCGCCTCAACGACAAACAAAAGCACCGACTAGATTTCCTTCAGCTGATGATTGACTCCCAGAAT
TCGAAAGAAACTGAGTCCCACAAAGCTCTGTCTGATCTGGAGCTCGCAGCCCAGTCAATAATCTTCATTTTTGCTGGCTATGAAACCACCAGCAGTGTTCTTTCC
TTCACTTTATATGAACTGGCCACTCACCCTGATGTCCAGCAGAAACTGCAAAAGGAGATTGATGCAGTTTTGCCCAATAAGGCACCACCTACCTATGATGCCGTG
GTACAGATGGAGTACCTTGACATGGTGGTGAATGAAACACTCAGATTATTCCCAGTTGCTATTAGACTTGAGAGGACTTGCAAGAAAGATGTTGAAATCAATGGG
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>CYP3A5|1577|protein
MDLIPNLAVETWLLLAVSLVLLYLYGTRTHGLFKRLGIPGPTPLPLLGNVLSYRQGLWKFDTECYKKYGKMWGTYEGQLPVLAITDPDVIRTVLVKECYSVFTNR
RSLGPVGFMKSAISLAEDEEWKRIRSLLSPTFTSGKLKEMFPIIAQYGDVLVRNLRREAEKGKPVTLKDIFGAYSMDVITGTSFGVNIDSLNNPQDPFVESTKKF
LKFGFLDPLFLSIILFPFLTPVFEALNVSLFPKDTINFLSKSVNRMKKSRLNDKQKHRLDFLQLMIDSQNSKETESHKALSDLELAAQSIIFIFAGYETTSSVLS
FTLYELATHPDVQQKLQKEIDAVLPNKAPPTYDAVVQMEYLDMVVNETLRLFPVAIRLERTCKKDVEINGVFIPKGSMVVIPTYALHHDPKYWTEPEEFRPERFS
KKKDSIDPYIYTPFGTGPRNCIGMRFALMNMKLALIRVLQNFSFKPCKETQIPLKLDTQGLLQPEKPIVLKVDSRDGTLSGE
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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 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Purcell, 2001_2 America cerebellum 9
(-)
-autism 4
(-)
-1.4 Down -
  • Platform: UniGEM V2 array
  • ProbeSet: -
  • RefSeq_ID/ EST: X90579
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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
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.

Simple Query:


  (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