Evidence Details for TBC1D28
Basic Information Top
| Gene Symbol: | TBC1D28 ( FLJ40244,MGC138217,MGC138221 ) |
|---|---|
| Gene Full Name: | TBC1 domain family, member 28 |
| Band: | 17p11.2 |
| Quick Links | Entrez ID:254272; OMIM: NA; Uniprot ID:TBC28_HUMAN; ENSEMBL ID: ENSG00000189375; HGNC ID: 26858 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TBC1D28|254272|nucleotide
ATGGAGATGGATGAGGACCCGGATAACCTGCCTGCCCAGGGGCAAGGCAATATCATCATTACTAAGTATGAGCAGGGACACCGAGCTGGGGCAGCAGTGGACTTG
GGGCATGAGCAGGTTGATGTCAGAAAATACACCAATAACCTCGGGATTGTGCATGAGATGGAGCTGCCCCGCGTCAGTGCCCTGGAGGTGAAGCAAAGACGCAAG
GAAAGTAAACGTACCAACAAGTGGCAAAAGATGCTTGCAGACTGGACAAAATATAGGAGCACCAAGAAGCTGTCTCAAAGAGTATGCAAAGTCATTCCCCTGGCG
GTGCGGGGCCGGGCGTTGTCACTTTTGCTAGATATTGACAAAATCAAGTCCCAGAACCCAGGCAAATATAAGGTCATGAAGGAGAAGGGCAAGAGGTCCTCCAGA
ATCATCCACTGCATCCAGCTAGATGTCAGCCACACCCTGCAGAAACACATGATGTTCATACAAAGATTCGGAGTCAAGCAGCAGGAATTATGTGACATCCTCGTG
GCCTATTCTGCATATAACCCTGTGAGTATTCCCGGGCAGCGATATTCCTGGTACCTGTGCCCATATTCACAGGCATGGGTGTCTCTCGGGGGTGTTGCAACTTCT
TGA
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ATGGAGATGGATGAGGACCCGGATAACCTGCCTGCCCAGGGGCAAGGCAATATCATCATTACTAAGTATGAGCAGGGACACCGAGCTGGGGCAGCAGTGGACTTG
GGGCATGAGCAGGTTGATGTCAGAAAATACACCAATAACCTCGGGATTGTGCATGAGATGGAGCTGCCCCGCGTCAGTGCCCTGGAGGTGAAGCAAAGACGCAAG
GAAAGTAAACGTACCAACAAGTGGCAAAAGATGCTTGCAGACTGGACAAAATATAGGAGCACCAAGAAGCTGTCTCAAAGAGTATGCAAAGTCATTCCCCTGGCG
GTGCGGGGCCGGGCGTTGTCACTTTTGCTAGATATTGACAAAATCAAGTCCCAGAACCCAGGCAAATATAAGGTCATGAAGGAGAAGGGCAAGAGGTCCTCCAGA
ATCATCCACTGCATCCAGCTAGATGTCAGCCACACCCTGCAGAAACACATGATGTTCATACAAAGATTCGGAGTCAAGCAGCAGGAATTATGTGACATCCTCGTG
GCCTATTCTGCATATAACCCTGTGAGTATTCCCGGGCAGCGATATTCCTGGTACCTGTGCCCATATTCACAGGCATGGGTGTCTCTCGGGGGTGTTGCAACTTCT
TGA
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>TBC1D28|254272|protein
MEMDEDPDNLPAQGQGNIIITKYEQGHRAGAAVDLGHEQVDVRKYTNNLGIVHEMELPRVSALEVKQRRKESKRTNKWQKMLADWTKYRSTKKLSQRVCKVIPLA
VRGRALSLLLDIDKIKSQNPGKYKVMKEKGKRSSRIIHCIQLDVSHTLQKHMMFIQRFGVKQQELCDILVAYSAYNPVSIPGQRYSWYLCPYSQAWVSLGGVATS
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MEMDEDPDNLPAQGQGNIIITKYEQGHRAGAAVDLGHEQVDVRKYTNNLGIVHEMELPRVSALEVKQRRKESKRTNKWQKMLADWTKYRSTKKLSQRVCKVIPLA
VRGRALSLLLDIDKIKSQNPGKYKVMKEKGKRSSRIIHCIQLDVSHTLQKHMMFIQRFGVKQQELCDILVAYSAYNPVSIPGQRYSWYLCPYSQAWVSLGGVATS
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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 (0) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Potocki, 2007 | - | aCGH |  | | autism | - | - | - | - | 1 | - | 1 |
| Nakamine, 2008 | Costa Rica | SNP microarray | | | autsim | - | - | - | - | 1 | - | 1 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
NGS 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.