Evidence Details for TMEM18
Basic Information Top
| Gene Symbol: | TMEM18 ( DKFZp434C1714 ) |
|---|---|
| Gene Full Name: | transmembrane protein 18 |
| Band: | 2p25.3 |
| Quick Links | Entrez ID:129787; OMIM: 613220; Uniprot ID:TMM18_HUMAN; ENSEMBL ID: ENSG00000151353; HGNC ID: 25257 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TMEM18|129787|nucleotide
ATGCCGTCCGCCTTCTCTGTCAGCTCTTTCCCCGTCAGCATCCCAGCCGTGCTCACGCAGACGGACTGGACTGAGCCCTGGCTCATGGGGCTGGCCACCTTCCAC
GCGCTCTGCGTGCTCCTCACCTGCTTGTCCTCCCGAAGCTACAGACTACAGATCGGGCACTTTCTGTGTCTAGTCATCTTAGTCTACTGTGCTGAATACATCAAT
GAGGCGGCTGCGATGAACTGGAGATTATTTTCGAAATACCAGTATTTCGACTCCAGGGGGATGTTCATTTCTATAGTATTTTCAGCCCCACTGCTGGTGAATGCC
ATGATCATTGTGGTTATGTGGGTATGGAAGACTTTGAATGTGATGACTGACCTGAAGAATGCACAAGAGAGAAGAAAGGAAAAGAAAAGGAGAAGGAAAGAAGAC
TGA
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ATGCCGTCCGCCTTCTCTGTCAGCTCTTTCCCCGTCAGCATCCCAGCCGTGCTCACGCAGACGGACTGGACTGAGCCCTGGCTCATGGGGCTGGCCACCTTCCAC
GCGCTCTGCGTGCTCCTCACCTGCTTGTCCTCCCGAAGCTACAGACTACAGATCGGGCACTTTCTGTGTCTAGTCATCTTAGTCTACTGTGCTGAATACATCAAT
GAGGCGGCTGCGATGAACTGGAGATTATTTTCGAAATACCAGTATTTCGACTCCAGGGGGATGTTCATTTCTATAGTATTTTCAGCCCCACTGCTGGTGAATGCC
ATGATCATTGTGGTTATGTGGGTATGGAAGACTTTGAATGTGATGACTGACCTGAAGAATGCACAAGAGAGAAGAAAGGAAAAGAAAAGGAGAAGGAAAGAAGAC
TGA
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>TMEM18|129787|protein
MPSAFSVSSFPVSIPAVLTQTDWTEPWLMGLATFHALCVLLTCLSSRSYRLQIGHFLCLVILVYCAEYINEAAAMNWRLFSKYQYFDSRGMFISIVFSAPLLVNA
MIIVVMWVWKTLNVMTDLKNAQERRKEKKRRRKED
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MPSAFSVSSFPVSIPAVLTQTDWTEPWLMGLATFHALCVLLTCLSSRSYRLQIGHFLCLVILVYCAEYINEAAAMNWRLFSKYQYFDSRGMFISIVFSAPLLVNA
MIIVVMWVWKTLNVMTDLKNAQERRKEKKRRRKED
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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 (4) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (7) |
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) |
||||||
| CAUCASIAN | |||||||||||
| 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 | ||||||
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | | | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
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.