AutismKB 2.0

Evidence Details for OR52N5


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Basic Information Top
Gene Symbol:OR52N5 ( OR11-62,OR52N5Q )
Gene Full Name: olfactory receptor, family 52, subfamily N, member 5
Band: 11p15.4
Quick LinksEntrez ID:390075; OMIM: NA; Uniprot ID:O52N5_HUMAN; ENSEMBL ID: ENSG00000181009; HGNC ID: 15231
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR52N5|390075|nucleotide
ATGCCTCTATTTAATTCATTATGCTGGTTTCCAACAATTCATGTGACTCCTCCATCTTTTATTCTTAATGGAATACCTGGTCTGGAAAGAGTACATGTATGGATC
TCCCTCCCACTCTGCACAATGTACATCATCTTCCTTGTGGGGAATCTTGGTCTTGTGTACCTCATTTATTATGAGGAGTCCTTACATCATCCGATGTATTTTTTT
TTTGGCCATGCTCTCTCCCTCATTGACCTCCTTACCTGCACCACCACTCTACCCAATGCACTCTGCATCTTCTGGTTCAGTCTCAAAGAAATTAACTTCAATGCT
TGCTTGGCCCAGATGTTCTTTGTTCATGGGTTCACAGGTGTGGAGTCTGGGGTGCTCATGCTCATGGCTCTAGACCGCTATGTAGCCATTTGCTACCCTTTGCGT
TATGCTACCACACTCACCAACCCTATCATTGCCAAGGCTGAGCTTGCCACCTTCCTGAGGGGTGTATTGCTGATGATTCCTTTCCCATTCTTGGTTAAGCGTTTG
CCTTTCTGCCAAAGCAATATTATCTCCCATACGTACTGCGACCACATGTCTGTAGTAAAGCTATCTTGTGCCAGCATCAAGGTCAATGTAATCTATGGTCTAATG
GTTGCTCTCCTGATTGGAGTGTTTGACATTTGTTGTATATCTTTGTCTTACACTTTGATCCTCAAGGCAGCGATCAGCCTCTCTTCATCAGATGCTCGGCAGAAG
GCTTTCAGCACCTGCACTGCCCATATATCTGCCATCATCATCACCTATGTTCCAGCATTCTTCACTTTCTTTGCCCACCGTTTTGGGGGACACACAATTCCCCCT
TCTCTTCACATCATTGTGGCTAATCTTTATCTTCTTCTTCCCCCAACTCTAAACCCTATTGTTTATGGAGTAAAGACAAAACAGATACGCAAGAGTGTCATAAAG
TTCTTCCAGGGTGATAAGGGTGCAGGTTGA

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>OR52N5|390075|protein
MPLFNSLCWFPTIHVTPPSFILNGIPGLERVHVWISLPLCTMYIIFLVGNLGLVYLIYYEESLHHPMYFFFGHALSLIDLLTCTTTLPNALCIFWFSLKEINFNA
CLAQMFFVHGFTGVESGVLMLMALDRYVAICYPLRYATTLTNPIIAKAELATFLRGVLLMIPFPFLVKRLPFCQSNIISHTYCDHMSVVKLSCASIKVNVIYGLM
VALLIGVFDICCISLSYTLILKAAISLSSSDARQKAFSTCTAHISAIIITYVPAFFTFFAHRFGGHTIPPSLHIIVANLYLLLPPTLNPIVYGVKTKQIRKSVIK
FFQGDKGAG

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
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
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