Evidence Details for TAF1C
Basic Information Top
| Gene Symbol: | TAF1C ( MGC:39976,SL1,TAFI110,TAFI95 ) |
|---|---|
| Gene Full Name: | TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa |
| Band: | 16q24 |
| Quick Links | Entrez ID:9013; OMIM: 604905; Uniprot ID:TAF1C_HUMAN; ENSEMBL ID: ENSG00000103168; HGNC ID: 11534 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TAF1C|9013|nucleotide
ATGGACTTCCCCAGCTCCCTCCGCCCTGCATTGTTTCTGACCGGCCCCCTTGGTCTGAGCGACGTCCCTGACCTCTCTTTCATGTGCAGCTGGCGAGACGCACTG
ACTCTGCCAGAGGCCCAGCCCCAGAACTCAGAGAATGGGGCACTGCATGTGACCAAGGACCTGCTGTGGGAGCCGGCAACCCCTGGGCCTCTCCCCATGCTGCCT
CCCCTCATCGATCCCTGGGACCCTGGCCTGACTGCCCGGGACCTGCTTTTCCGCGGAGGGTGCCGGTATCGGAAGCGGCCCCGAGTCGTGCTGGATGTGACTGAG
CAGATCAGCCGGTTCCTCTTGGATCATGGAGACGTAGCCTTTGCGCCCCTGGGGAAGCTGATGCTGGAGAATTTCAAGCTGGAGGGAGCGGGGAGCCGCACTAAG
AAGAAGACAGTGGTCAGTGTGAAGAAGCTGCTCCAGGACCTCGGTGGACACCAGCCCTGGGGGTGTCCCTGGGCTTACCTCAGCAACCGACAGCGCCGCTTCTCT
ATCCTCGGGGGCCCCATCCTGGGCACGTCGGTGGCGAGCCACTTGGCAGAGCTGCTGCACGAGGAGCTGGTGCTGCGGTGGGAGCAGCTGCTTCTGGATGAGGCC
TGCACTGGGGGCGCGCTGGCCTGGGTTCCTGGAAGGACACCCCAGTTCGGGCAGCTGGTCTACCCTGCTGGAGGCGCCCAGGACAGGCTGCATTTCCAAGAGGTC
GTTCTGACCCCAGGTGACAATCCCCAATTCCTTGGGAAACCTGGACGCATCCAGCTCCAGGGACCTGTCCGGCAAGTGGTGACATGCACCGTCCAGGGAGAAAGT
AAGGCCCTTATATACACTTTCCTCCCTCACTGGCTGACCTGCTACCTGACCCCTGGCCCTTTCCATCCCTCCTCAGCTCTGCTGGCCGTCCGCTCTGACTACCAC
TGTGCCGTGTGGAAGTTTGGTAAACAGTGGCAGCCAACCCTTCTGCAGGCAATGCAGGTGGAGAAAGGGGCCACGGGGATCAGCCTCAGCCCTCACCTGCCCGGG
GAGCTGGCCATCTGCAGCCGCTCGGGAGCCGTCTGCCTGTGGAGCCCTGAGGATGGGCTGCGGCAAATCTACAGGGACCCTGAGACCCTCGTGTTCCGGGACTCC
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ATGGACTTCCCCAGCTCCCTCCGCCCTGCATTGTTTCTGACCGGCCCCCTTGGTCTGAGCGACGTCCCTGACCTCTCTTTCATGTGCAGCTGGCGAGACGCACTG
ACTCTGCCAGAGGCCCAGCCCCAGAACTCAGAGAATGGGGCACTGCATGTGACCAAGGACCTGCTGTGGGAGCCGGCAACCCCTGGGCCTCTCCCCATGCTGCCT
CCCCTCATCGATCCCTGGGACCCTGGCCTGACTGCCCGGGACCTGCTTTTCCGCGGAGGGTGCCGGTATCGGAAGCGGCCCCGAGTCGTGCTGGATGTGACTGAG
CAGATCAGCCGGTTCCTCTTGGATCATGGAGACGTAGCCTTTGCGCCCCTGGGGAAGCTGATGCTGGAGAATTTCAAGCTGGAGGGAGCGGGGAGCCGCACTAAG
AAGAAGACAGTGGTCAGTGTGAAGAAGCTGCTCCAGGACCTCGGTGGACACCAGCCCTGGGGGTGTCCCTGGGCTTACCTCAGCAACCGACAGCGCCGCTTCTCT
ATCCTCGGGGGCCCCATCCTGGGCACGTCGGTGGCGAGCCACTTGGCAGAGCTGCTGCACGAGGAGCTGGTGCTGCGGTGGGAGCAGCTGCTTCTGGATGAGGCC
TGCACTGGGGGCGCGCTGGCCTGGGTTCCTGGAAGGACACCCCAGTTCGGGCAGCTGGTCTACCCTGCTGGAGGCGCCCAGGACAGGCTGCATTTCCAAGAGGTC
GTTCTGACCCCAGGTGACAATCCCCAATTCCTTGGGAAACCTGGACGCATCCAGCTCCAGGGACCTGTCCGGCAAGTGGTGACATGCACCGTCCAGGGAGAAAGT
AAGGCCCTTATATACACTTTCCTCCCTCACTGGCTGACCTGCTACCTGACCCCTGGCCCTTTCCATCCCTCCTCAGCTCTGCTGGCCGTCCGCTCTGACTACCAC
TGTGCCGTGTGGAAGTTTGGTAAACAGTGGCAGCCAACCCTTCTGCAGGCAATGCAGGTGGAGAAAGGGGCCACGGGGATCAGCCTCAGCCCTCACCTGCCCGGG
GAGCTGGCCATCTGCAGCCGCTCGGGAGCCGTCTGCCTGTGGAGCCCTGAGGATGGGCTGCGGCAAATCTACAGGGACCCTGAGACCCTCGTGTTCCGGGACTCC
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>TAF1C|9013|protein
MDFPSSLRPALFLTGPLGLSDVPDLSFMCSWRDALTLPEAQPQNSENGALHVTKDLLWEPATPGPLPMLPPLIDPWDPGLTARDLLFRGGCRYRKRPRVVLDVTE
QISRFLLDHGDVAFAPLGKLMLENFKLEGAGSRTKKKTVVSVKKLLQDLGGHQPWGCPWAYLSNRQRRFSILGGPILGTSVASHLAELLHEELVLRWEQLLLDEA
CTGGALAWVPGRTPQFGQLVYPAGGAQDRLHFQEVVLTPGDNPQFLGKPGRIQLQGPVRQVVTCTVQGESKALIYTFLPHWLTCYLTPGPFHPSSALLAVRSDYH
CAVWKFGKQWQPTLLQAMQVEKGATGISLSPHLPGELAICSRSGAVCLWSPEDGLRQIYRDPETLVFRDSSSWRWADFTAHPRVLTVGDRTGVKMLDTQGPPGCG
LLLFRLGAEASCQKGERVLLTQYLGHSSPKCLPPTLHLVCTQFSLYLVDERLPLVPMLKWNHGLPSPLLLARLLPPPRPSCVQPLLLGGQGGQLQLLHLAGEGAS
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MDFPSSLRPALFLTGPLGLSDVPDLSFMCSWRDALTLPEAQPQNSENGALHVTKDLLWEPATPGPLPMLPPLIDPWDPGLTARDLLFRGGCRYRKRPRVVLDVTE
QISRFLLDHGDVAFAPLGKLMLENFKLEGAGSRTKKKTVVSVKKLLQDLGGHQPWGCPWAYLSNRQRRFSILGGPILGTSVASHLAELLHEELVLRWEQLLLDEA
CTGGALAWVPGRTPQFGQLVYPAGGAQDRLHFQEVVLTPGDNPQFLGKPGRIQLQGPVRQVVTCTVQGESKALIYTFLPHWLTCYLTPGPFHPSSALLAVRSDYH
CAVWKFGKQWQPTLLQAMQVEKGATGISLSPHLPGELAICSRSGAVCLWSPEDGLRQIYRDPETLVFRDSSSWRWADFTAHPRVLTVGDRTGVKMLDTQGPPGCG
LLLFRLGAEASCQKGERVLLTQYLGHSSPKCLPPTLHLVCTQFSLYLVDERLPLVPMLKWNHGLPSPLLLARLLPPPRPSCVQPLLLGGQGGQLQLLHLAGEGAS
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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 | 1 (3) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Anney, 2010_1 | Discovery | Illumina Human 1M-single Infinium BeadChip | 1369 | 1385 (-) |  | | ASD | - - |
- - | ||
| Anney, 2010_2 | Replication | Illumina Human 1M-single Infinium BeadChip | 595 | 1086 (-) | | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | |  | ASD | - - |
- - | ||
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow 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.