AutismKB 2.0

Evidence Details for NCOA6


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Basic Information Top
Gene Symbol:NCOA6 ( AIB3,ASC2,KIAA0181,NRC,PRIP,RAP250,TRBP )
Gene Full Name: nuclear receptor coactivator 6
Band: 20q11.22
Quick LinksEntrez ID:23054; OMIM: 605299; Uniprot ID:NCOA6_HUMAN; ENSEMBL ID: ENSG00000198646; HGNC ID: 15936
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCOA6|23054|nucleotide
ATGGTTTTGGATGACCTTCCAAACTTAGAAGACATCTATACTTCCTTGTGTTCATCAACAATGGAAGACTCAGAGATGGATTTTGACTCTGGACTAGAAGATGAT
GACACAAAAAGTGATAGTATTTTGGAGGATTCCACAATTTTTGTGGCCTTCAAAGGAAATATAGATGATAAAGACTTCAAATGGAAATTAGATGCAATATTGAAA
AACGTGCCCAATTTGTTACACATGGAGTCCAGCAAGCTAAAAGTACAGAAGGTGGAGCCCTGGAACAGCGTGCGTGTGACATTCAACATCCCCCGGGAAGCAGCG
GAGCGGCTACGGATCCTTGCTCAGAGCAACAACCAGCAGCTTCGGGATTTAGGGATTCTCTCCGTTCAGATTGAAGGGGAAGGTGCTATTAACCTGGCTTTGGCT
CAGAACCGAAGCCAAGATGTGAGAATGAATGGACCCATGGGAGCTGGAAATTCAGTTAGGATGGAGGCGGGATTTCCTATGGCAAGTGGTCCAGGAATAATAAGG
ATGAACAACCCTGCCACTGTTATGATACCCCCGGGTGGAAATGTGTCATCTTCCATGATGGCACCAGGCCCCAATCCAGAGCTGCAGCCCAGGACTCCTCGCCCT
GCTTCTCAGTCAGATGCAATGGATCCACTCCTCTCTGGGCTCCATATACAGCAGCAAAGTCATCCCTCAGGATCTTTAGCTCCCCCACATCACCCAATGCAGCCT
GTCTCTGTGAACAGACAAATGAACCCAGCTAATTTTCCCCAGCTGCAGCAGCAGCAGCAACAACAACAACAGCAGCAGCAGCAGCAGCAGCAGCAACAACAGCAA
CAGCAGCAACAACAGTTGCAGGCAAGACCCCCACAGCAACATCAGCAGCAACAGCCACAGGGAATTCGACCCCAGTTTACTGCCCCAACTCAGGTGCCTGTTCCT
CCAGGCTGGAACCAGCTGCCTTCTGGAGCCCTTCAACCTCCTCCAGCCCAGGGTTCTCTGGGCACAATGACTGCAAACCAAGGGTGGAAGAAGGCTCCCTTGCCC
GGCCCAATGCAACAGCAACTCCAGGCAAGACCATCCTTAGCCACGGTACAGACGCCTTCCCACCCTCCCCCTCCATATCCCTTTGGCAGCCAGCAAGCCTCACAA
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>NCOA6|23054|protein
MVLDDLPNLEDIYTSLCSSTMEDSEMDFDSGLEDDDTKSDSILEDSTIFVAFKGNIDDKDFKWKLDAILKNVPNLLHMESSKLKVQKVEPWNSVRVTFNIPREAA
ERLRILAQSNNQQLRDLGILSVQIEGEGAINLALAQNRSQDVRMNGPMGAGNSVRMEAGFPMASGPGIIRMNNPATVMIPPGGNVSSSMMAPGPNPELQPRTPRP
ASQSDAMDPLLSGLHIQQQSHPSGSLAPPHHPMQPVSVNRQMNPANFPQLQQQQQQQQQQQQQQQQQQQQQQQQQLQARPPQQHQQQQPQGIRPQFTAPTQVPVP
PGWNQLPSGALQPPPAQGSLGTMTANQGWKKAPLPGPMQQQLQARPSLATVQTPSHPPPPYPFGSQQASQAHTNFPQMSNPGQFTAPQMKSLQGGPSRVPTPLQQ
PHLTNKSPASSPSSFQQGSPASSPTVNQTQQQMGPRPPQNNPLPQGFQQPVSSPGRNPMVQQGNVPPNFMVMQQQPPNQGPQSLHPGLGGMPKRLPPGFSAGQAN
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 3 (3) 0 (0) 0 (0) 5 (6)
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 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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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