Overview

Location [1]
17q23.2
Protein [2]
Protein phosphatase 1D
Synonyms [1]
IDDGIP, JDVS, PP2C-DELTA, WIP1

PPM1D is altered in 2.12% of all cancers with breast invasive ductal carcinoma, invasive breast carcinoma, colon adenocarcinoma, lung adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PPM1D GENIE Cases - Top Diseases

The most common alterations in PPM1D are PPM1D Mutation (1.03%), PPM1D Amplification (1.05%), PPM1D L450* (0.09%), PPM1D R572* (0.02%), and PPM1D W427* (0.03%) [3].

PPM1D GENIE Cases - Top Alterations

Significance of PPM1D in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Central Nervous System Embryonal Neoplasm +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Anaplastic Oligodendroglioma +

High-Grade Glioma, NOS +

Diffuse Glioma +

Malignant Glioma +

Malignant Central Nervous System Neoplasm +

Glioblastoma +

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Lymphoma +

Anaplastic Astrocytoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Extrarenal Rhabdoid Tumor +

Hepatoblastoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Mixed Phenotype Acute Leukemia +

Pineoblastoma +

Retinoblastoma +

Rhabdoid Tumor +

Rhabdoid Tumor Of The Kidney +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.