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
Show »
ATGGCCCGGGGGCCGCTGGCCGCCCGCGGACTGCGGCTGCTGCTGCCGCTCCTGCCGCTCCTGCCGCTCCTGCCGCTGCCGCAGGTGGCGCTGGGCTTCGCGGAC
GGCAGCTGCGACCCCTCGGACCAGTGCCCGCCCCAGGCCCGCTGGAGCAGCCTGTGGCACGTGGGGCTCATCCTGCTGGCGGTCCTCCTGCTTCTGCTGTGTGGT
GTCACAGCTGGTTGTGTCCGGTTCTGCTGCCTCCGGAAGCAGGCACAGGCCCAGCCACATCTGCCACCAGCACGGCAGCCCTGCGACGTGGCAGTCATCCCTATG
GACAGTGACAGCCCTGTACACAGCACTGTGACCTCCTACAGCTCCGTGCAGTACCCACTGGGCATGCGGTTGCCCCTGCCCTTTGGGGAGCTGGACCTGGACTCC
ATGGCTCCTCCTGCCTACAGCCTGTACACCCCGGAGCCTCCACCCTCCTACGATGAAGCTGTCAAGATGGCCAAGCCCAGAGAGGAAGGACCAGCACTCTCCCAG
AAACCCAGCCCTCTCCTTGGGGCCTCGGGCCTAGAGACCACTCCAGTGCCCCAGGAGTCGGGCCCCAATACTCAACTACCACCTTGTAGCCCTGGTGCCCCTTGA
Show »
>TMEM52|339456|protein
MARGPLAARGLRLLLPLLPLLPLLPLPQVALGFADGSCDPSDQCPPQARWSSLWHVGLILLAVLLLLLCGVTAGCVRFCCLRKQAQAQPHLPPARQPCDVAVIPM
DSDSPVHSTVTSYSSVQYPLGMRLPLPFGELDLDSMAPPAYSLYTPEPPPSYDEAVKMAKPREEGPALSQKPSPLLGASGLETTPVPQESGPNTQLPPCSPGAP
Show »
MARGPLAARGLRLLLPLLPLLPLLPLPQVALGFADGSCDPSDQCPPQARWSSLWHVGLILLAVLLLLLCGVTAGCVRFCCLRKQAQAQPHLPPARQPCDVAVIPM
DSDSPVHSTVTSYSSVQYPLGMRLPLPFGELDLDSMAPPAYSLYTPEPPPSYDEAVKMAKPREEGPALSQKPSPLLGASGLETTPVPQESGPNTQLPPCSPGAP
Show »
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 |
| Gregory, 2009 | USA | aCGH |  | | ASD | - | - | - | - | 119 | 54 | 173 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
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 |
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
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.