Evidence Details for PPM1A
Basic Information Top
| Gene Symbol: | PPM1A ( FLJ42306,MGC9201,PP2C-ALPHA,PP2CA,PP2Calpha ) |
|---|---|
| Gene Full Name: | protein phosphatase, Mg2+/Mn2+ dependent, 1A |
| Band: | 14q23.1 |
| Quick Links | Entrez ID:5494; OMIM: 606108; Uniprot ID:PPM1A_HUMAN; ENSEMBL ID: ENSG00000100614; HGNC ID: 9275 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PPM1A|5494|nucleotide
ATGGGAGCATTTTTAGACAAGCCAAAGATGGAAAAGCATAATGCCCAGGGGCAGGGTAATGGGTTGCGATATGGGCTAAGCAGCATGCAAGGCTGGCGTGTTGAA
ATGGAGGATGCACATACGGCTGTGATCGGTTTGCCAAGTGGACTTGAATCGTGGTCATTCTTTGCTGTGTATGATGGGCATGCTGGTTCTCAGGTTGCCAAATAC
TGCTGTGAGCATTTGTTAGATCACATCACCAATAACCAGGATTTTAAAGGGTCTGCAGGAGCACCTTCTGTGGAAAATGTAAAGAATGGAATCAGAACAGGTTTT
CTGGAGATTGATGAACACATGAGAGTTATGTCAGAGAAGAAACATGGTGCAGATAGAAGTGGGTCAACAGCTGTAGGTGTCTTAATTTCTCCCCAACATACTTAT
TTCATTAACTGTGGAGACTCAAGAGGTTTACTTTGTAGGAACAGGAAAGTTCATTTCTTCACACAAGATCACAAACCAAGTAATCCGCTGGAGAAAGAACGAATT
CAGAATGCAGGTGGCTCTGTAATGATTCAGCGTGTGAATGGCTCTCTGGCTGTATCGAGGGCCCTTGGGGATTTTGATTACAAATGTGTCCATGGAAAAGGTCCT
ACTGAGCAGCTTGTCTCACCAGAGCCTGAAGTCCATGATATTGAAAGATCTGAAGAAGATGATCAGTTCATTATCCTTGCATGTGATGGTATCTGGGATGTTATG
GGAAATGAAGAGCTCTGTGATTTTGTAAGATCCAGACTTGAAGTCACTGATGACCTTGAGAAAGTTTGCAATGAAGTAGTCGACACCTGTTTGTATAAGGGAAGT
CGAGACAACATGAGTGTGATTTTGATCTGTTTTCCAAATGCACCCAAAGTATCGCCAGAAGCAGTGAAGAAGGAGGCAGAGTTGGACAAGTACCTGGAATGCAGA
GTAGAAGAAATCATAAAGAAGCAGGGGGAAGGCGTCCCCGACTTAGTCCATGTGATGCGCACATTAGCGAGTGAGAACATCCCCAGCCTCCCACCAGGGGGTGAA
TTGGCAAGCAAGAGGAATGTTATTGAAGCCGTTTACAATAGACTGAATCCTTACAAAAATGACGACACTGACTCTACATCAACAGATGATATGTGGTAA
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ATGGGAGCATTTTTAGACAAGCCAAAGATGGAAAAGCATAATGCCCAGGGGCAGGGTAATGGGTTGCGATATGGGCTAAGCAGCATGCAAGGCTGGCGTGTTGAA
ATGGAGGATGCACATACGGCTGTGATCGGTTTGCCAAGTGGACTTGAATCGTGGTCATTCTTTGCTGTGTATGATGGGCATGCTGGTTCTCAGGTTGCCAAATAC
TGCTGTGAGCATTTGTTAGATCACATCACCAATAACCAGGATTTTAAAGGGTCTGCAGGAGCACCTTCTGTGGAAAATGTAAAGAATGGAATCAGAACAGGTTTT
CTGGAGATTGATGAACACATGAGAGTTATGTCAGAGAAGAAACATGGTGCAGATAGAAGTGGGTCAACAGCTGTAGGTGTCTTAATTTCTCCCCAACATACTTAT
TTCATTAACTGTGGAGACTCAAGAGGTTTACTTTGTAGGAACAGGAAAGTTCATTTCTTCACACAAGATCACAAACCAAGTAATCCGCTGGAGAAAGAACGAATT
CAGAATGCAGGTGGCTCTGTAATGATTCAGCGTGTGAATGGCTCTCTGGCTGTATCGAGGGCCCTTGGGGATTTTGATTACAAATGTGTCCATGGAAAAGGTCCT
ACTGAGCAGCTTGTCTCACCAGAGCCTGAAGTCCATGATATTGAAAGATCTGAAGAAGATGATCAGTTCATTATCCTTGCATGTGATGGTATCTGGGATGTTATG
GGAAATGAAGAGCTCTGTGATTTTGTAAGATCCAGACTTGAAGTCACTGATGACCTTGAGAAAGTTTGCAATGAAGTAGTCGACACCTGTTTGTATAAGGGAAGT
CGAGACAACATGAGTGTGATTTTGATCTGTTTTCCAAATGCACCCAAAGTATCGCCAGAAGCAGTGAAGAAGGAGGCAGAGTTGGACAAGTACCTGGAATGCAGA
GTAGAAGAAATCATAAAGAAGCAGGGGGAAGGCGTCCCCGACTTAGTCCATGTGATGCGCACATTAGCGAGTGAGAACATCCCCAGCCTCCCACCAGGGGGTGAA
TTGGCAAGCAAGAGGAATGTTATTGAAGCCGTTTACAATAGACTGAATCCTTACAAAAATGACGACACTGACTCTACATCAACAGATGATATGTGGTAA
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>PPM1A|5494|protein
MGAFLDKPKMEKHNAQGQGNGLRYGLSSMQGWRVEMEDAHTAVIGLPSGLESWSFFAVYDGHAGSQVAKYCCEHLLDHITNNQDFKGSAGAPSVENVKNGIRTGF
LEIDEHMRVMSEKKHGADRSGSTAVGVLISPQHTYFINCGDSRGLLCRNRKVHFFTQDHKPSNPLEKERIQNAGGSVMIQRVNGSLAVSRALGDFDYKCVHGKGP
TEQLVSPEPEVHDIERSEEDDQFIILACDGIWDVMGNEELCDFVRSRLEVTDDLEKVCNEVVDTCLYKGSRDNMSVILICFPNAPKVSPEAVKKEAELDKYLECR
VEEIIKKQGEGVPDLVHVMRTLASENIPSLPPGGELASKRNVIEAVYNRLNPYKNDDTDSTSTDDMW
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MGAFLDKPKMEKHNAQGQGNGLRYGLSSMQGWRVEMEDAHTAVIGLPSGLESWSFFAVYDGHAGSQVAKYCCEHLLDHITNNQDFKGSAGAPSVENVKNGIRTGF
LEIDEHMRVMSEKKHGADRSGSTAVGVLISPQHTYFINCGDSRGLLCRNRKVHFFTQDHKPSNPLEKERIQNAGGSVMIQRVNGSLAVSRALGDFDYKCVHGKGP
TEQLVSPEPEVHDIERSEEDDQFIILACDGIWDVMGNEELCDFVRSRLEVTDDLEKVCNEVVDTCLYKGSRDNMSVILICFPNAPKVSPEAVKKEAELDKYLECR
VEEIIKKQGEGVPDLVHVMRTLASENIPSLPPGGELASKRNVIEAVYNRLNPYKNDDTDSTSTDDMW
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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 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) |  | | autism with dup(15q) | autism | 15 (-) |
1.12 | Up | 0.0000058 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
NGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.