Evidence Details for PGAM5
Basic Information Top
| Gene Symbol: | PGAM5 ( BXLBV68,MGC5352 ) |
|---|---|
| Gene Full Name: | phosphoglycerate mutase family member 5 |
| Band: | 12q24.33 |
| Quick Links | Entrez ID:192111; OMIM: NA; Uniprot ID:PGAM5_HUMAN; ENSEMBL ID: ENSG00000176894; HGNC ID: 28763 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PGAM5|192111|nucleotide
ATGGCGTTCCGGCAGGCGCTGCAGCTGGCGGCCTGCGGGCTGGCCGGGGGCTCGGCCGCCGTGCTCTTCTCGGCCGTGGCGGTAGGGAAGCCGCGCGCAGGCGGG
GACGCGGAGCCACGCCCGGCTGAGCCGCCGGCCTGGGCGGGGGGCGCGCGGCCGGGCCCCGGTGTCTGGGACCCCAACTGGGACAGGCGAGAACCACTGTCTCTG
ATCAACGTGCGGAAGAGGAACGTGGAATCTGGGGAAGAAGAGCTGGCGTCCAAGCTGGACCACTACAAAGCCAAGGCCACGCGGCACATCTTCCTCATCAGGCAT
TCCCAGTACCACGTGGATGGCTCCCTGGAGAAGGACCGCACTCTGACCCCGCTGGGTCGGGAGCAGGCTGAACTCACTGGGCTCCGCCTGGCAAGCTTGGGGTTG
AAGTTTAATAAAATCGTCCATTCGTCTATGACGCGCGCCATAGAGACCACCGATATCATCAGCCGGCACCTGCCAGGCGTCTGCAAAGTCAGCACAGATCTGCTG
CGGGAAGGCGCCCCCATCGAGCCAGACCCGCCCGTGTCTCATTGGAAGCCGGAAGCTGTGCAGTATTACGAAGACGGAGCCCGGATCGAGGCCGCCTTCCGGAAC
TACATCCACCGCGCAGATGCCAGGCAGGAGGAGGACAGTTACGAGATCTTCATCTGTCACGCCAACGTCATCCGCTACATCGTGTGCAGAGCACTGCAGTTTCCT
CCTGAAGGCTGGCTCCGGCTCTCCCTCAATAATGGCAGCATCACCCACCTGGTGATCCGACCCAACGGCCGAGTTGCGCTCAGGACCCTCGGGGACACGGGGTTC
ATGCCTCCCGACAAGATCACTCGATCCTGA
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ATGGCGTTCCGGCAGGCGCTGCAGCTGGCGGCCTGCGGGCTGGCCGGGGGCTCGGCCGCCGTGCTCTTCTCGGCCGTGGCGGTAGGGAAGCCGCGCGCAGGCGGG
GACGCGGAGCCACGCCCGGCTGAGCCGCCGGCCTGGGCGGGGGGCGCGCGGCCGGGCCCCGGTGTCTGGGACCCCAACTGGGACAGGCGAGAACCACTGTCTCTG
ATCAACGTGCGGAAGAGGAACGTGGAATCTGGGGAAGAAGAGCTGGCGTCCAAGCTGGACCACTACAAAGCCAAGGCCACGCGGCACATCTTCCTCATCAGGCAT
TCCCAGTACCACGTGGATGGCTCCCTGGAGAAGGACCGCACTCTGACCCCGCTGGGTCGGGAGCAGGCTGAACTCACTGGGCTCCGCCTGGCAAGCTTGGGGTTG
AAGTTTAATAAAATCGTCCATTCGTCTATGACGCGCGCCATAGAGACCACCGATATCATCAGCCGGCACCTGCCAGGCGTCTGCAAAGTCAGCACAGATCTGCTG
CGGGAAGGCGCCCCCATCGAGCCAGACCCGCCCGTGTCTCATTGGAAGCCGGAAGCTGTGCAGTATTACGAAGACGGAGCCCGGATCGAGGCCGCCTTCCGGAAC
TACATCCACCGCGCAGATGCCAGGCAGGAGGAGGACAGTTACGAGATCTTCATCTGTCACGCCAACGTCATCCGCTACATCGTGTGCAGAGCACTGCAGTTTCCT
CCTGAAGGCTGGCTCCGGCTCTCCCTCAATAATGGCAGCATCACCCACCTGGTGATCCGACCCAACGGCCGAGTTGCGCTCAGGACCCTCGGGGACACGGGGTTC
ATGCCTCCCGACAAGATCACTCGATCCTGA
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>PGAM5|192111|protein
MAFRQALQLAACGLAGGSAAVLFSAVAVGKPRAGGDAEPRPAEPPAWAGGARPGPGVWDPNWDRREPLSLINVRKRNVESGEEELASKLDHYKAKATRHIFLIRH
SQYHVDGSLEKDRTLTPLGREQAELTGLRLASLGLKFNKIVHSSMTRAIETTDIISRHLPGVCKVSTDLLREGAPIEPDPPVSHWKPEAVQYYEDGARIEAAFRN
YIHRADARQEEDSYEIFICHANVIRYIVCRALQFPPEGWLRLSLNNGSITHLVIRPNGRVALRTLGDTGFMPPDKITRS
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MAFRQALQLAACGLAGGSAAVLFSAVAVGKPRAGGDAEPRPAEPPAWAGGARPGPGVWDPNWDRREPLSLINVRKRNVESGEEELASKLDHYKAKATRHIFLIRH
SQYHVDGSLEKDRTLTPLGREQAELTGLRLASLGLKFNKIVHSSMTRAIETTDIISRHLPGVCKVSTDLLREGAPIEPDPPVSHWKPEAVQYYEDGARIEAAFRN
YIHRADARQEEDSYEIFICHANVIRYIVCRALQFPPEGWLRLSLNNGSITHLVIRPNGRVALRTLGDTGFMPPDKITRS
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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 (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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top