Evidence Details for TTC33
Basic Information Top
| Gene Symbol: | TTC33 ( OSRF ) |
|---|---|
| Gene Full Name: | tetratricopeptide repeat domain 33 |
| Band: | 5p13.1 |
| Quick Links | Entrez ID:23548; OMIM: NA; Uniprot ID:TTC33_HUMAN; ENSEMBL ID: ENSG00000113638; HGNC ID: 29959 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TTC33|23548|nucleotide
ATGGCTTCCTTTGGGTGGAAGAGGAAAATTGGTGAGAAGGTCTCAAAGGTCACTTCCCAGCAGTTTGAAGCTGAAGCTGCTGATGAGAAGGATGTAGTTGACAAC
GATGAAGGGAACTGGCTTCATGCCATTAAACGTAGGAAAGAAATTCTTCTTGAAGGCTGTGCTGAGAAAAGTAAACAGCTGAAGGATGAAGGAGCCAGTTTGGCT
GAAAATAAAAGATATCGGGAGGCAATTCAGAAGTGGGATGAAGCACTACAGTTAACTCCAAATGATGCTACCCTATACGAGATGAAATCACAGGTGCTAATGTCT
CTTCATGAAATGTTCCCAGCAGTACATGCAGCAGAAATGGCCGTCCAGCAAAATCCACATTCATGGGAGTCTTGGCAGACTTTGGGACGTGCTCAACTTGGTTTA
GGAGAGATAATCCTGGCAATTCGAAGTTTTCAAGTAGCCCTTCACATCTATCCAATGAACCCTGAAATATGGAAAGAAGACCTCTCTTGGGCAAGAACGCTCCAG
GAGCAGCAGAAGGTAGCACAGAGGATTAAAAAAAGTGAAGCACCAGCTGAAGTAACACACTTTTCACCAAAGTCAATTCCAGACTATGACTTTGAAAGTGATGAG
ATTGTTGCTGTTTGTGCAGCTATTGCTGAGAAAGAGAAGACAGTTTCAGCAAATAAAACAATGGTTATTGTGTCTGCTTCTGGGGCCATAGAGACTGTAACTGAA
AAGGAGGATGGTGCTACACCACCAGATGGCTCTGTTTTTATCAAAGCCCGATGA
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ATGGCTTCCTTTGGGTGGAAGAGGAAAATTGGTGAGAAGGTCTCAAAGGTCACTTCCCAGCAGTTTGAAGCTGAAGCTGCTGATGAGAAGGATGTAGTTGACAAC
GATGAAGGGAACTGGCTTCATGCCATTAAACGTAGGAAAGAAATTCTTCTTGAAGGCTGTGCTGAGAAAAGTAAACAGCTGAAGGATGAAGGAGCCAGTTTGGCT
GAAAATAAAAGATATCGGGAGGCAATTCAGAAGTGGGATGAAGCACTACAGTTAACTCCAAATGATGCTACCCTATACGAGATGAAATCACAGGTGCTAATGTCT
CTTCATGAAATGTTCCCAGCAGTACATGCAGCAGAAATGGCCGTCCAGCAAAATCCACATTCATGGGAGTCTTGGCAGACTTTGGGACGTGCTCAACTTGGTTTA
GGAGAGATAATCCTGGCAATTCGAAGTTTTCAAGTAGCCCTTCACATCTATCCAATGAACCCTGAAATATGGAAAGAAGACCTCTCTTGGGCAAGAACGCTCCAG
GAGCAGCAGAAGGTAGCACAGAGGATTAAAAAAAGTGAAGCACCAGCTGAAGTAACACACTTTTCACCAAAGTCAATTCCAGACTATGACTTTGAAAGTGATGAG
ATTGTTGCTGTTTGTGCAGCTATTGCTGAGAAAGAGAAGACAGTTTCAGCAAATAAAACAATGGTTATTGTGTCTGCTTCTGGGGCCATAGAGACTGTAACTGAA
AAGGAGGATGGTGCTACACCACCAGATGGCTCTGTTTTTATCAAAGCCCGATGA
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>TTC33|23548|protein
MASFGWKRKIGEKVSKVTSQQFEAEAADEKDVVDNDEGNWLHAIKRRKEILLEGCAEKSKQLKDEGASLAENKRYREAIQKWDEALQLTPNDATLYEMKSQVLMS
LHEMFPAVHAAEMAVQQNPHSWESWQTLGRAQLGLGEIILAIRSFQVALHIYPMNPEIWKEDLSWARTLQEQQKVAQRIKKSEAPAEVTHFSPKSIPDYDFESDE
IVAVCAAIAEKEKTVSANKTMVIVSASGAIETVTEKEDGATPPDGSVFIKAR
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MASFGWKRKIGEKVSKVTSQQFEAEAADEKDVVDNDEGNWLHAIKRRKEILLEGCAEKSKQLKDEGASLAENKRYREAIQKWDEALQLTPNDATLYEMKSQVLMS
LHEMFPAVHAAEMAVQQNPHSWESWQTLGRAQLGLGEIILAIRSFQVALHIYPMNPEIWKEDLSWARTLQEQQKVAQRIKKSEAPAEVTHFSPKSIPDYDFESDE
IVAVCAAIAEKEKTVSANKTMVIVSASGAIETVTEKEDGATPPDGSVFIKAR
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Evidence summary TopClick 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 (1) | 0 (0) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| ASIAN | |||||||||||
| Cho, 2011_1 | - | FUJIFLM DNA Whole Blood Kit S and QuickGene 810 | 42 | 42 (-) |  | | ASD | 77.7±22.6 months (49-149) months |
46.2±12.2 (31-65) | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen | |  | PDD | 345 | - | 345 | - | - | - | - |
| Liu, 2001 | USA | microsatellite-based genomic screen | | | autism, ASD | 110 | - | 110 | - | - | - | - |
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | | | autism | 115 | - | 115 | - | - | - | - |
| Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | | | ASD | 314 | - | 314 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.