AutismKB 2.0

Evidence Details for OR11H12


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Basic Information Top
Gene Symbol:OR11H12 ( - )
Gene Full Name: olfactory receptor, family 11, subfamily H, member 12
Band: 14q11.2
Quick LinksEntrez ID:440153; OMIM: NA; Uniprot ID:O11HC_HUMAN; ENSEMBL ID: ENSG00000196143; HGNC ID: 30738
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR11H12|440153|nucleotide
ATGTGTCCCTTGACCTTGCAGGTCACTGGCCTAATGAATGTCTCTGAGCCAAATTCCAGCTTTGCTTTTGTAAATGAATTTATACTCCAAGGTTTCACTTGTGAG
TGGACAATTCAGATCTTCCTCTTCTCACTCTTTACTACAACATATGCACTGACTATAACAGGGAATGGAGCCATTGCTTTTGTCCTGTGGTGTGACTGGCGACTT
CACACTCCCATGTACATGTTCCTGGGAAATTTCTCCTTTTTAGAGATATGGTATGTCTCTTCTACAGTTCCCAAGATGTTGGTCAACTTCCTTTCAGAGAAAAAA
AACATCTCCTTTGCTGGATGTTTTCTCCAGTTTTATTTCTTCTTCTCTTTGGGTACATCAGAATGCTTGCTTTTGACTGTGATGGCCTTTGATCAGTACCTTGCT
ATCTGCCGTCCCTTGCTCTATCCTAATATCATGACTGGGCATCTCTGTGCCAAACTGGTCATACTGTGCTGGGTTTGTGGATTTCTGTGGTTCCTGATCCCCATT
GTTCTCATCTCTCAGATGCCCTTCTGTGGCCCAAACATTATTGACCATGTTGTGTGTGACCCAGGGCCACGATTTGCATTGGATTGTGTTTCTGCCCCAAGAATC
CAACTGTTTTGCTACACTCTAAGCTCATTAGTTATTTTTGGTAACTTCCTCTTTATTATTGGATCCTATACTCTTGTCCTGAAAGCTGTGTTGGGTATGCCTTCA
AGCACTGGGAGACATAAGGCCTTCTCTACCTGTGGGTCTCATTTGGCTGTGGTATCACTGTGCTATAGCTCTCTTATGGTCATGTATGTGAGCCCAGGACTCGGA
CATTCTACAGGGATGCAGAAAATTGAAACTTTGTTCTATGCTATGGTGACCCCACTCTTCAATCCCCTTATCTATAGCCTCCAGAATAAGGAGATAAAGGCAGCC
CTGAGGAAAGTTCTGGGAAGTTCCAACATAATCTAA

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>OR11H12|440153|protein
MCPLTLQVTGLMNVSEPNSSFAFVNEFILQGFTCEWTIQIFLFSLFTTTYALTITGNGAIAFVLWCDWRLHTPMYMFLGNFSFLEIWYVSSTVPKMLVNFLSEKK
NISFAGCFLQFYFFFSLGTSECLLLTVMAFDQYLAICRPLLYPNIMTGHLCAKLVILCWVCGFLWFLIPIVLISQMPFCGPNIIDHVVCDPGPRFALDCVSAPRI
QLFCYTLSSLVIFGNFLFIIGSYTLVLKAVLGMPSSTGRHKAFSTCGSHLAVVSLCYSSLMVMYVSPGLGHSTGMQKIETLFYAMVTPLFNPLIYSLQNKEIKAA
LRKVLGSSNII

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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 (0) 0 (1) 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
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
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