Evidence Details for TTC27
Basic Information Top
| Gene Symbol: | TTC27 ( FLJ20272 ) |
|---|---|
| Gene Full Name: | tetratricopeptide repeat domain 27 |
| Band: | 2p22.3 |
| Quick Links | Entrez 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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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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MTQNIFNSTTTAEEKIDSYLEKQVVTFLDYSTDLDTTERQQLIFLLGVSSLQLFVQSNWTGPPVDLHPQDFLSSVLFQQFSEVKGLDAFVLSLLTLDGESIYSLT
SKPILLLLARIILVNVRHKLTAIQSLPWWTLRCVNIHQHLLEERSPLLFTLAENCIDQVMKLQNLFVDDSGRYLAIQFHLECAYVFLYYYEYRKAKDQLDIAKDI
SQLQIDLTGALGKRTRFQENYVAQLILDVRREGDVLSNCEFTPAPTPQEHLTKNLELNDDTILNDIKLADCEQFQMPDLCAEEIAIILGICTNFQKNNPVHTLTE
VELLAFTSCLLSQPKFWAIQTSALILRTKLEKGSTRRVERAMRQTQALADQFEDKTTSVLERLKIFYCCQVPPHWAIQRQLASLLFELGCTSSALQIFEKLEMWE
DVVICYERAGQHGKAEEILRQELEKKETPSLYCLLGDVLGDHSCYDKAWELSRYRSARAQRSKALLHLRNKEFQECVECFERSVKINPMQLGVWFSLGCAYLALE
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 | aCGH | ![]() | ![]() | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 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
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