Evidence Details for DMRT2
Basic Information Top
| Gene Symbol: | DMRT2 ( - ) |
|---|---|
| Gene Full Name: | doublesex and mab-3 related transcription factor 2 |
| Band: | 9p24.3 |
| Quick Links | Entrez ID:10655; OMIM: 604935; Uniprot ID:DMRT2_HUMAN; ENSEMBL ID: ENSG00000173253; HGNC ID: 2935 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DMRT2|10655|nucleotide
ATGGCCGACCCGCAGGCTGGCTCCGCGGCCGGGGACTGGGAGATCGATGTCGAGAGCCTGGAGCTGGAAGAGGACGTCTGCGGGGCGCCGCGGTCCACGCCCCCC
GGGCCCAGCCCGCCGCCGGCGGACGGGGACTGCGAGGACGACGAAGATGACGACGGGGTGGACGAAGACGCGGAAGAAGAGGGCGACGGCGAGGAGGCAGGCGCG
TCCCCCGGGATGCCCGGCCAGCCGGAGCAGCGGGGGGGACCGCAGCCGAGGCCGCCGCTCGCGCCTCAGGCCTCACCCGCCGGCACCGGTCCCCGAGAGCGCTGC
ACTCCCGCGGGCGGCGGCGCGGAGCCGCGCAAGCTGAGCCGCACGCCCAAGTGCGCGCGCTGCCGCAACCACGGCGTGGTGTCCTGCCTGAAGGGCCACAAGCGC
TTCTGTCGCTGGCGCGACTGCCAGTGCGCCAACTGCCTGCTGGTGGTGGAGCGGCAGCGCGTCATGGCCGCCCAGGTGGCGCTCCGGAGGCAGCAGGCCACCGAG
GACAAGAAGGGGCTTTCCGGGAAACAGAATAATTTCGAGCGCAAAGCTGTGTACCAGAGGCAAGTCAGAGCCCCCAGTTTGCTGGCCAAAAGCATTTTAGAAGTT
CTCCTTGGATTATTCTACAGCTATTATGTGTACATAATGAACCATCTTTAG
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ATGGCCGACCCGCAGGCTGGCTCCGCGGCCGGGGACTGGGAGATCGATGTCGAGAGCCTGGAGCTGGAAGAGGACGTCTGCGGGGCGCCGCGGTCCACGCCCCCC
GGGCCCAGCCCGCCGCCGGCGGACGGGGACTGCGAGGACGACGAAGATGACGACGGGGTGGACGAAGACGCGGAAGAAGAGGGCGACGGCGAGGAGGCAGGCGCG
TCCCCCGGGATGCCCGGCCAGCCGGAGCAGCGGGGGGGACCGCAGCCGAGGCCGCCGCTCGCGCCTCAGGCCTCACCCGCCGGCACCGGTCCCCGAGAGCGCTGC
ACTCCCGCGGGCGGCGGCGCGGAGCCGCGCAAGCTGAGCCGCACGCCCAAGTGCGCGCGCTGCCGCAACCACGGCGTGGTGTCCTGCCTGAAGGGCCACAAGCGC
TTCTGTCGCTGGCGCGACTGCCAGTGCGCCAACTGCCTGCTGGTGGTGGAGCGGCAGCGCGTCATGGCCGCCCAGGTGGCGCTCCGGAGGCAGCAGGCCACCGAG
GACAAGAAGGGGCTTTCCGGGAAACAGAATAATTTCGAGCGCAAAGCTGTGTACCAGAGGCAAGTCAGAGCCCCCAGTTTGCTGGCCAAAAGCATTTTAGAAGTT
CTCCTTGGATTATTCTACAGCTATTATGTGTACATAATGAACCATCTTTAG
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>DMRT2|10655|protein
MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADGDCEDDEDDDGVDEDAEEEGDGEEAGASPGMPGQPEQRGGPQPRPPLAPQASPAGTGPRERC
TPAGGGAEPRKLSRTPKCARCRNHGVVSCLKGHKRFCRWRDCQCANCLLVVERQRVMAAQVALRRQQATEDKKGLSGKQNNFERKAVYQRQVRAPSLLAKSILEV
LLGLFYSYYVYIMNHL
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MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADGDCEDDEDDDGVDEDAEEEGDGEEAGASPGMPGQPEQRGGPQPRPPLAPQASPAGTGPRERC
TPAGGGAEPRKLSRTPKCARCRNHGVVSCLKGHKRFCRWRDCQCANCLLVVERQRVMAAQVALRRQQATEDKKGLSGKQNNFERKAVYQRQVRAPSLLAKSILEV
LLGLFYSYYVYIMNHL
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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) | 0 (4) | 1 (1) | 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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top