AutismKB 2.0

Evidence Details for OR7C2


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Basic Information Top
Gene Symbol:OR7C2 ( CIT-HSP-87M17,OR19-18,OR7C3 )
Gene Full Name: olfactory receptor, family 7, subfamily C, member 2
Band: 19p13.1
Quick LinksEntrez ID:26658; OMIM: NA; Uniprot ID:OR7C2_HUMAN; ENSEMBL ID: ENSG00000127529; HGNC ID: 8374
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR7C2|26658|nucleotide
ATGGAAAGAGGAAACCAAACAGAAGTTGGAAACTTTCTCCTCCTGGGATTCGCAGAGGACTCTGACATGCAGCTTCTCCTCCATGGGCTGTTCCTCTCCATGTAC
CTGGTTACCATCATCGGAAACCTGCTCATCATCCTGACCATCAGTTCAGACTCCCACCTCCACACCCCCATGTACTTCTTCCTCTCCAACCTGTCCTTTGCTGAC
ATCTGTTTCACATCCACGACTGTCCCAAAGATGCTGGTGAATATCCAAACACAAAGCAAAATGATCACTTTTGCAGGCTGCCTCACTCAGATATTTTTTTTCATT
GCATTTGGATGCCTGGACAATTTGCTCCTGACCATGACGGCCTATGACCGCTTCGTGGCCATCTGTTACCCCCTGCACTACACGGTCATCATGAACCCCCGGCTC
TGTGGACTGCTGGTTCTGGGGTCCTGGTGCATCAGTGTCATGGGTTCCTTGCTTGAGACCTTGACCATTTTGAGGCTGTCCTTCTGCACAAATATGGAAATTCCG
CACTTTTTTTGTGATCCTTCCGAAGTCCTGAAGCTGGCCTGTTCTGACACCTTCATCAATAACATCGTGATGTATTTTGTGACCATTGTCCTGGGTGTTTTTCCT
CTCTGTGGAATCCTATTCTCTTATTCTCAGATTTTCTCCTCCGTCCTAAGAGTATCTGCCAGAGGCCAGCACAAAGCCTTTTCCACCTGTGGTTCCCACCTCTCA
GTGGTCAGCTTGTTCTATGGCACTGGCCTTGGGGTCTATCTCAGTTCTGCAGTTACACCACCTTCTAGGACAAGTCTGGCAGCCTCGGTGATGTACACCATGGTC
ACCCCCATGCTGAACCCCTTCATCTACAGCCTGAGGAACAAGGACATGAAGGGGTCACTGGGGAGACTCCTCCTCAGGGCAACGTCTCTCAAAGAGGGGACCATT
GCTAAGCTCTCATGA

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>OR7C2|26658|protein
MERGNQTEVGNFLLLGFAEDSDMQLLLHGLFLSMYLVTIIGNLLIILTISSDSHLHTPMYFFLSNLSFADICFTSTTVPKMLVNIQTQSKMITFAGCLTQIFFFI
AFGCLDNLLLTMTAYDRFVAICYPLHYTVIMNPRLCGLLVLGSWCISVMGSLLETLTILRLSFCTNMEIPHFFCDPSEVLKLACSDTFINNIVMYFVTIVLGVFP
LCGILFSYSQIFSSVLRVSARGQHKAFSTCGSHLSVVSLFYGTGLGVYLSSAVTPPSRTSLAASVMYTMVTPMLNPFIYSLRNKDMKGSLGRLLLRATSLKEGTI
AKLS

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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 (2) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
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