Evidence Details for PMM2
Basic Information Top
| Gene Symbol: | PMM2 ( CDG1,CDG1a,CDGS,PMM 2 ) |
|---|---|
| Gene Full Name: | phosphomannomutase 2 |
| Band: | 16p13.2 |
| Quick Links | Entrez ID:5373; OMIM: 601785; Uniprot ID:PMM2_HUMAN; ENSEMBL ID: ENSG00000140650; HGNC ID: 9115 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PMM2|5373|nucleotide
ATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTG
AGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAA
AATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGC
TACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAA
CGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGA
GGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAA
ACTATGCCAGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTC
TCCTAA
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ATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTG
AGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAA
AATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGC
TACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAA
CGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGA
GGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAA
ACTATGCCAGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTC
TCCTAA
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>PMM2|5373|protein
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLS
YIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDK
TMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS
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MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLS
YIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDK
TMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS
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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 (3) | 2 (4) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (8) |
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 | ||||||
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top