PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D
Information
- Symbol
- PPM1D
- Type
- protein-coding
- Description
- protein phosphatase, Mg2+/Mn2+ dependent 1D
- Entrez Gene ID
- 8493
- Genome
- hg19
- Position
- chr17:58,677,554-58,743,641
- Genome
- hg38
- Position
- chr17:60,600,193-60,666,280
- MIM
- 605100 OMIM
- HGNC
- HGNC:9277 HGNC
- Ensembl
- ENSG00000170836 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 50 |
| Likely pathogenic | 2 | 54 |
| Benign | 0 | 56 |
| Likely benign | 1 | 172 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| not provided | 18 | 2 |
| Uncertain significance | 2 | 176 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
54 |
 |
400 |
 |
36 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| 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 | IDDGIP |
| SYNONYM | JDVS |
| SYNONYM | PP2C-DELTA |
| SYNONYM | WIP1 |
| MIM | 605100 OMIM |
| HGNC | HGNC:9277 HGNC |
| Ensembl | ENSG00000170836 Ensembl |
| AllianceGenome | HGNC:9277 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000629650.3 | hg38 | chr17 | 60,600,415 | 60,658,461 | 58,047 |
| ENST00000305921.8 | hg38 | chr17 | 60,600,193 | 60,666,280 | 66,088 |
| ENST00000305921.8 | hg19 | chr17 | 58,677,554 | 58,743,641 | 66,088 |
| ENST00000629650.3 | hg19 | chr17 | 58,677,776 | 58,735,822 | 58,047 |
| Key | Value |
|---|---|
| strand | + |
| start | 58,677,543 |
| Gene Symbol | PPM1D |
| Entrez GeneId | 8,493 |
| Chr Band | 17q23.2 |
| end | 58,743,639 |
| chr | chr17 |
Genome browser