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