PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K
Information
- Symbol
- PPM1K
- Type
- protein-coding
- Description
- protein phosphatase, Mg2+/Mn2+ dependent 1K
- Entrez Gene ID
- 152926
- Genome
- hg19
- Position
- chr4:89,178,772-89,205,713
- Genome
- hg38
- Position
- chr4:88,257,620-88,284,561
- MIM
- 611065 OMIM
- HGNC
- HGNC:25415 HGNC
- Ensembl
- ENSG00000163644 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 18 |
| Likely benign | 0 | 64 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 132 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
24 |
 |
188 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BCKDH |
| SYNONYM | BDP |
| SYNONYM | MSUDMV |
| SYNONYM | PP2Ckappa |
| SYNONYM | PP2Cm |
| SYNONYM | PTMP |
| SYNONYM | UG0882E07 |
| MIM | 611065 OMIM |
| HGNC | HGNC:25415 HGNC |
| Ensembl | ENSG00000163644 Ensembl |
| AllianceGenome | HGNC:25415 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000295908.11 | hg38 | chr4 | 88,261,871 | 88,284,578 | 22,708 |
| ENST00000608933.6 | hg38 | chr4 | 88,257,620 | 88,284,561 | 26,942 |
| ENST00000508256.5 | hg38 | chr4 | 88,262,577 | 88,284,631 | 22,055 |
| ENST00000514204.1 | hg38 | chr4 | 88,275,145 | 88,284,769 | 9,625 |
| ENST00000608933.6 | hg19 | chr4 | 89,178,772 | 89,205,713 | 26,942 |
| ENST00000295908.11 | hg19 | chr4 | 89,183,023 | 89,205,730 | 22,708 |
| ENST00000508256.5 | hg19 | chr4 | 89,183,729 | 89,205,783 | 22,055 |
| ENST00000514204.1 | hg19 | chr4 | 89,196,297 | 89,205,921 | 9,625 |
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