AutismKB 2.0

Evidence Details for TNRC6C


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Basic Information Top
Gene Symbol:TNRC6C ( FLJ20015,KIAA1582 )
Gene Full Name: trinucleotide repeat containing 6C
Band: 17q25.3
Quick LinksEntrez ID:57690; OMIM: 610741; Uniprot ID:TNR6C_HUMAN; ENSEMBL ID: ENSG00000078687; HGNC ID: 29318
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TNRC6C|57690|nucleotide
ATGGCTACAGGGAGTGCCCAGGGCAACTTCACTGGACATACCAAGAAGACAAATGGCAATAATGGCACCAATGGCGCACTCGTCCAAAGCCCTTCTAATCAGAGT
GCCCTTGGAGCAGGGGGAGCGAACAGTAATGGAAGTGCGGCCAGAGTGTGGGGTGTAGCCACAGGCTCCAGCTCTGGCCTGGCTCACTGCTCTGTCAGTGGTGGG
GATGGAAAAATGGACACTATGATTGGAGATGGGAGAAGTCAGAATTGCTGGGGTGCTTCCAACTCCAATGCTGGCATTAATCTTAACCTTAATCCTAATGCCAAC
CCAGCTGCCTGGCCTGTACTTGGACATGAAGGAACCGTGGCGACAGGCAACCCTTCCAGTATTTGCAGTCCAGTCAGTGCCATAGGTCAAAATATGGGCAACCAG
AACGGGAACCCAACAGGCACTTTAGGTGCTTGGGGAAACTTGCTGCCACAAGAGAGCACAGAACCACAAACGTCCACTTCTCAGAATGTGTCTTTCAGCGCACAA
CCTCAGAACCTTAACACTGATGGACCAAATAACACTAACCCCATGAACTCTTCACCCAACCCTATCAATGCAATGCAGACAAATGGACTGCCAAACTGGGGCATG
GCTGTTGGTATGGGGGCCATCATCCCGCCCCACCTGCAAGGCCTTCCTGGTGCTAATGGATCATCAGTTTCTCAAGTCAGTGGGGGCAGTGCTGAAGGAATAAGC
AATTCTGTGTGGGGACTGTCCCCAGGTAACCCTGCCACAGGAAATAGCAATTCTGGGTTCAGTCAGGGGAATGGAGACACTGTGAACTCAGCATTAAGTGCTAAA
CAAAATGGATCCAGCAGTGCTGTGCAAAAGGAAGGAAGTGGAGGAAATGCTTGGGATTCAGGACCTCCTGCTGGTCCTGGAATACTCGCCTGGGGAAGGGGCAGT
GGCAACAATGGCGTTGGTAATATCCATTCAGGAGCTTGGGGCCACCCCAGCCGAAGCACCTCTAACGGTGTGAATGGGGAATGGGGAAAGCCCCCAAACCAGCAT
TCCAACAGTGACATCAATGGGAAAGGATCAACAGGGTGGGAGAGTCCTAGTGTCACCAGCCAGAACCCTACCGTACAGCCTGGTGGTGAACACATGAACTCCTGG
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>TNRC6C|57690|protein
MATGSAQGNFTGHTKKTNGNNGTNGALVQSPSNQSALGAGGANSNGSAARVWGVATGSSSGLAHCSVSGGDGKMDTMIGDGRSQNCWGASNSNAGINLNLNPNAN
PAAWPVLGHEGTVATGNPSSICSPVSAIGQNMGNQNGNPTGTLGAWGNLLPQESTEPQTSTSQNVSFSAQPQNLNTDGPNNTNPMNSSPNPINAMQTNGLPNWGM
AVGMGAIIPPHLQGLPGANGSSVSQVSGGSAEGISNSVWGLSPGNPATGNSNSGFSQGNGDTVNSALSAKQNGSSSAVQKEGSGGNAWDSGPPAGPGILAWGRGS
GNNGVGNIHSGAWGHPSRSTSNGVNGEWGKPPNQHSNSDINGKGSTGWESPSVTSQNPTVQPGGEHMNSWAKAASSGTTASEGSSDGSGNHNEGSTGREGTGEGR
RRDKGIIDQGHIQLPRNDLDPRVLSNTGWGQTPVKQNTAWEFEESPRSERKNDNGTEAWGCAATQASNSGGKNDGSIMNSTNTSSVSGWVNAPPAAVPANTGWGD
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
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
Iossifov I, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
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