AutismKB 2.0

Evidence Details for TTC27


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Basic Information Top
Gene Symbol:TTC27 ( FLJ20272 )
Gene Full Name: tetratricopeptide repeat domain 27
Band: 2p22.3
Quick LinksEntrez ID:55622; OMIM: NA; Uniprot ID:TTC27_HUMAN; ENSEMBL ID: ENSG00000018699; HGNC ID: 25986
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTC27|55622|nucleotide
ATGACTCAAAATATTTTTAATTCAACAACAACCGCTGAAGAAAAGATTGATAGCTACCTGGAGAAGCAGGTAGTAACATTCCTGGATTACTCAACAGATTTGGAC
ACAACGGAAAGACAACAGTTGATATTTCTACTTGGTGTGAGCAGTTTGCAACTTTTTGTTCAGAGCAACTGGACGGGGCCCCCTGTTGACTTACACCCTCAGGAC
TTTTTGTCATCTGTTTTGTTCCAGCAATTCAGTGAGGTTAAAGGACTGGATGCATTTGTTCTGAGCCTGCTCACTCTAGATGGTGAATCAATCTACAGCCTGACC
TCGAAGCCTATACTACTGTTATTAGCACGCATTATCCTAGTGAATGTAAGACATAAACTGACAGCTATTCAGAGCTTGCCATGGTGGACTTTGAGATGTGTGAAT
ATTCATCAGCATTTGCTTGAGGAACGCTCACCTCTGCTTTTTACTCTTGCCGAAAACTGTATTGATCAAGTGATGAAACTACAGAATCTGTTTGTAGATGATTCA
GGTCGATATTTGGCTATTCAATTCCATCTGGAATGTGCATATGTGTTTTTATATTATTATGAGTACAGAAAAGCAAAAGATCAGTTGGATATTGCTAAGGACATC
AGCCAATTACAAATTGATTTGACAGGTGCTTTGGGAAAAAGAACACGGTTCCAGGAAAATTATGTGGCACAACTGATTCTAGATGTAAGAAGGGAAGGGGATGTC
CTTTCAAATTGTGAATTCACTCCAGCACCCACTCCTCAGGAACATTTAACCAAGAATCTTGAGCTCAATGATGACACCATTCTGAATGACATAAAGTTAGCAGAT
TGTGAACAGTTCCAGATGCCGGATCTGTGTGCTGAAGAGATCGCTATTATTCTTGGAATCTGCACTAATTTTCAAAAGAATAACCCAGTGCACACATTAACTGAA
GTGGAGCTTCTGGCATTTACATCATGTTTGCTTTCACAACCAAAGTTCTGGGCCATTCAGACATCAGCCTTGATCCTCCGGACAAAACTTGAGAAAGGAAGTACT
CGCCGAGTGGAACGGGCAATGAGGCAGACACAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAA
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>TTC27|55622|protein
MTQNIFNSTTTAEEKIDSYLEKQVVTFLDYSTDLDTTERQQLIFLLGVSSLQLFVQSNWTGPPVDLHPQDFLSSVLFQQFSEVKGLDAFVLSLLTLDGESIYSLT
SKPILLLLARIILVNVRHKLTAIQSLPWWTLRCVNIHQHLLEERSPLLFTLAENCIDQVMKLQNLFVDDSGRYLAIQFHLECAYVFLYYYEYRKAKDQLDIAKDI
SQLQIDLTGALGKRTRFQENYVAQLILDVRREGDVLSNCEFTPAPTPQEHLTKNLELNDDTILNDIKLADCEQFQMPDLCAEEIAIILGICTNFQKNNPVHTLTE
VELLAFTSCLLSQPKFWAIQTSALILRTKLEKGSTRRVERAMRQTQALADQFEDKTTSVLERLKIFYCCQVPPHWAIQRQLASLLFELGCTSSALQIFEKLEMWE
DVVICYERAGQHGKAEEILRQELEKKETPSLYCLLGDVLGDHSCYDKAWELSRYRSARAQRSKALLHLRNKEFQECVECFERSVKINPMQLGVWFSLGCAYLALE
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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