Evidence Details for PMM1
Basic Information Top
| Gene Symbol: | PMM1 ( Sec53 ) |
|---|---|
| Gene Full Name: | phosphomannomutase 1 |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:5372; OMIM: 601786; Uniprot ID:PMM1_HUMAN; ENSEMBL ID: ENSG00000100417; HGNC ID: 9114 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PMM1|5372|nucleotide
ATGGCAGTCACCGCCCAGGCAGCCCGCAGGAAGGAGCGCGTCCTCTGCCTGTTTGACGTGGACGGGACCCTCACGCCGGCTCGCCAGAAAATTGACCCTGAGGTG
GCCGCCTTCCTGCAGAAGCTACGAAGTAGAGTGCAGATCGGTGTGGTGGGCGGCTCTGACTACTGTAAGATCGCTGAGCAGCTGGGTGACGGGGATGAAGTCATT
GAGAAGTTTGATTATGTGTTTGCCGAGAACGGGACGGTGCAGTATAAGCACGGACGACTGCTCTCCAAGCAGACCATCCAGAACCACCTGGGGGAGGAGCTGCTG
CAGGACTTGATCAACTTCTGCCTCAGCTACATGGCCCTGCTCAGGCTGCCCAAGAAGCGTGGAACCTTCATCGAGTTCCGGAATGGCATGCTGAACATCTCGCCC
ATCGGCCGGAGCTGCACCCTGGAGGAGAGGATCGAGTTCTCCGAACTGGACAAGAAAGAGAAGATCCGGGAGAAGTTCGTGGAAGCCCTGAAAACAGAGTTTGCT
GGCAAAGGGCTGAGGTTCTCTCGAGGAGGCATGATCAGCTTTGACGTCTTCCCCGAGGGCTGGGACAAGCGCTACTGCCTGGATAGCCTGGACCAGGACAGCTTC
GACACCATCCACTTCTTTGGGAACGAGACTAGCCCTGGTGGGAACGACTTTGAGATCTTTGCCGACCCCCGGACTGTTGGCCACAGCGTGGTGTCTCCTCAGGAC
ACGGTGCAGCGATGCCGGGAGATTTTCTTCCCAGAGACAGCTCATGAGGCGTGA
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ATGGCAGTCACCGCCCAGGCAGCCCGCAGGAAGGAGCGCGTCCTCTGCCTGTTTGACGTGGACGGGACCCTCACGCCGGCTCGCCAGAAAATTGACCCTGAGGTG
GCCGCCTTCCTGCAGAAGCTACGAAGTAGAGTGCAGATCGGTGTGGTGGGCGGCTCTGACTACTGTAAGATCGCTGAGCAGCTGGGTGACGGGGATGAAGTCATT
GAGAAGTTTGATTATGTGTTTGCCGAGAACGGGACGGTGCAGTATAAGCACGGACGACTGCTCTCCAAGCAGACCATCCAGAACCACCTGGGGGAGGAGCTGCTG
CAGGACTTGATCAACTTCTGCCTCAGCTACATGGCCCTGCTCAGGCTGCCCAAGAAGCGTGGAACCTTCATCGAGTTCCGGAATGGCATGCTGAACATCTCGCCC
ATCGGCCGGAGCTGCACCCTGGAGGAGAGGATCGAGTTCTCCGAACTGGACAAGAAAGAGAAGATCCGGGAGAAGTTCGTGGAAGCCCTGAAAACAGAGTTTGCT
GGCAAAGGGCTGAGGTTCTCTCGAGGAGGCATGATCAGCTTTGACGTCTTCCCCGAGGGCTGGGACAAGCGCTACTGCCTGGATAGCCTGGACCAGGACAGCTTC
GACACCATCCACTTCTTTGGGAACGAGACTAGCCCTGGTGGGAACGACTTTGAGATCTTTGCCGACCCCCGGACTGTTGGCCACAGCGTGGTGTCTCCTCAGGAC
ACGGTGCAGCGATGCCGGGAGATTTTCTTCCCAGAGACAGCTCATGAGGCGTGA
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>PMM1|5372|protein
MAVTAQAARRKERVLCLFDVDGTLTPARQKIDPEVAAFLQKLRSRVQIGVVGGSDYCKIAEQLGDGDEVIEKFDYVFAENGTVQYKHGRLLSKQTIQNHLGEELL
QDLINFCLSYMALLRLPKKRGTFIEFRNGMLNISPIGRSCTLEERIEFSELDKKEKIREKFVEALKTEFAGKGLRFSRGGMISFDVFPEGWDKRYCLDSLDQDSF
DTIHFFGNETSPGGNDFEIFADPRTVGHSVVSPQDTVQRCREIFFPETAHEA
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MAVTAQAARRKERVLCLFDVDGTLTPARQKIDPEVAAFLQKLRSRVQIGVVGGSDYCKIAEQLGDGDEVIEKFDYVFAENGTVQYKHGRLLSKQTIQNHLGEELL
QDLINFCLSYMALLRLPKKRGTFIEFRNGMLNISPIGRSCTLEERIEFSELDKKEKIREKFVEALKTEFAGKGLRFSRGGMISFDVFPEGWDKRYCLDSLDQDSF
DTIHFFGNETSPGGNDFEIFADPRTVGHSVVSPQDTVQRCREIFFPETAHEA
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top