Evidence Details for TMEM52
Basic Information Top
| Gene Symbol: | TMEM52 ( - ) |
|---|---|
| Gene Full Name: | transmembrane protein 52 |
| Band: | 1p36.33 |
| Quick Links | Entrez ID:339456; OMIM: NA; Uniprot ID:TMM52_HUMAN; ENSEMBL ID: ENSG00000178821; HGNC ID: 27916 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TMEM52|339456|nucleotide
ATGGCCCGGGGGCCGCTGGCCGCCCGCGGACTGCGGCTGCTGCTGCCGCTCCTGCCGCTCCTGCCGCTCCTGCCGCTGCCGCAGGTGGCGCTGGGCTTCGCGGAC
GGCAGCTGCGACCCCTCGGACCAGTGCCCGCCCCAGGCCCGCTGGAGCAGCCTGTGGCACGTGGGGCTCATCCTGCTGGCGGTCCTCCTGCTTCTGCTGTGTGGT
GTCACAGCTGGTTGTGTCCGGTTCTGCTGCCTCCGGAAGCAGGCACAGGCCCAGCCACATCTGCCACCAGCACGGCAGCCCTGCGACGTGGCAGTCATCCCTATG
GACAGTGACAGCCCTGTACACAGCACTGTGACCTCCTACAGCTCCGTGCAGTACCCACTGGGCATGCGGTTGCCCCTGCCCTTTGGGGAGCTGGACCTGGACTCC
ATGGCTCCTCCTGCCTACAGCCTGTACACCCCGGAGCCTCCACCCTCCTACGATGAAGCTGTCAAGATGGCCAAGCCCAGAGAGGAAGGACCAGCACTCTCCCAG
AAACCCAGCCCTCTCCTTGGGGCCTCGGGCCTAGAGACCACTCCAGTGCCCCAGGAGTCGGGCCCCAATACTCAACTACCACCTTGTAGCCCTGGTGCCCCTTGA
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ATGGCCCGGGGGCCGCTGGCCGCCCGCGGACTGCGGCTGCTGCTGCCGCTCCTGCCGCTCCTGCCGCTCCTGCCGCTGCCGCAGGTGGCGCTGGGCTTCGCGGAC
GGCAGCTGCGACCCCTCGGACCAGTGCCCGCCCCAGGCCCGCTGGAGCAGCCTGTGGCACGTGGGGCTCATCCTGCTGGCGGTCCTCCTGCTTCTGCTGTGTGGT
GTCACAGCTGGTTGTGTCCGGTTCTGCTGCCTCCGGAAGCAGGCACAGGCCCAGCCACATCTGCCACCAGCACGGCAGCCCTGCGACGTGGCAGTCATCCCTATG
GACAGTGACAGCCCTGTACACAGCACTGTGACCTCCTACAGCTCCGTGCAGTACCCACTGGGCATGCGGTTGCCCCTGCCCTTTGGGGAGCTGGACCTGGACTCC
ATGGCTCCTCCTGCCTACAGCCTGTACACCCCGGAGCCTCCACCCTCCTACGATGAAGCTGTCAAGATGGCCAAGCCCAGAGAGGAAGGACCAGCACTCTCCCAG
AAACCCAGCCCTCTCCTTGGGGCCTCGGGCCTAGAGACCACTCCAGTGCCCCAGGAGTCGGGCCCCAATACTCAACTACCACCTTGTAGCCCTGGTGCCCCTTGA
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>TMEM52|339456|protein
MARGPLAARGLRLLLPLLPLLPLLPLPQVALGFADGSCDPSDQCPPQARWSSLWHVGLILLAVLLLLLCGVTAGCVRFCCLRKQAQAQPHLPPARQPCDVAVIPM
DSDSPVHSTVTSYSSVQYPLGMRLPLPFGELDLDSMAPPAYSLYTPEPPPSYDEAVKMAKPREEGPALSQKPSPLLGASGLETTPVPQESGPNTQLPPCSPGAP
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MARGPLAARGLRLLLPLLPLLPLLPLPQVALGFADGSCDPSDQCPPQARWSSLWHVGLILLAVLLLLLCGVTAGCVRFCCLRKQAQAQPHLPPARQPCDVAVIPM
DSDSPVHSTVTSYSSVQYPLGMRLPLPFGELDLDSMAPPAYSLYTPEPPPSYDEAVKMAKPREEGPALSQKPSPLLGASGLETTPVPQESGPNTQLPPCSPGAP
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (7) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top