Evidence Details for GMDS
Basic Information Top
| Gene Symbol: | GMDS ( GMD,SDR3E1 ) |
|---|---|
| Gene Full Name: | GDP-mannose 4,6-dehydratase |
| Band: | 6p25.3 |
| Quick Links | Entrez ID:2762; OMIM: 602884; Uniprot ID:GMDS_HUMAN; ENSEMBL ID: ENSG00000112699; HGNC ID: 4369 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GMDS|2762|nucleotide
ATGGCACACGCACCGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGTATCACAGGCCAGGAT
GGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTCCATGGAATTGTACGGCGGTCCAGTTCATTTAATACGGGTCGAATTGAGCATCTGTATAAG
AATCCCCAGGCTCACATTGAAGGAAACATGAAGTTGCACTATGGCGATCTCACTGACAGTACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAGATC
TACAACCTTGGAGCCCAGAGCCACGTCAAAATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAG
ACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCC
CGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAG
AGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCC
AAACGAGATTGGGGCCATGCCAAGGACTATGTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGT
GTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTT
CACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCT
TTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGA
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ATGGCACACGCACCGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGTATCACAGGCCAGGAT
GGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTCCATGGAATTGTACGGCGGTCCAGTTCATTTAATACGGGTCGAATTGAGCATCTGTATAAG
AATCCCCAGGCTCACATTGAAGGAAACATGAAGTTGCACTATGGCGATCTCACTGACAGTACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAGATC
TACAACCTTGGAGCCCAGAGCCACGTCAAAATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAG
ACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCC
CGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAG
AGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCC
AAACGAGATTGGGGCCATGCCAAGGACTATGTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGT
GTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTT
CACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCT
TTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGA
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>GMDS|2762|protein
MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEI
YNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHE
SPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKV
HVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHADVELMRTNPNA
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MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEI
YNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHE
SPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKV
HVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHADVELMRTNPNA
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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 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top