Overview

Location [1]
5q13.1
Pathway
PI3K/AKT1/MTOR
Protein [2]
Phosphatidylinositol 3-kinase regulatory subunit alpha
Synonyms [1]
IMD36, AGM7, p85, GRB1, p85-ALPHA

Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1) is gene that encodes a regulatory protein subunit of the same name that functions in the phosphorylation of inositol rings. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PIK3R1 is altered in 2.55% of all cancers with endometrial endometrioid adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, conventional glioblastoma multiforme, and lung adenocarcinoma having the greatest prevalence of alterations [3].

PIK3R1 GENIE Cases - Top Diseases

The most common alterations in PIK3R1 are PIK3R1 Mutation (2.96%), PIK3R1 Loss (0.17%), PIK3R1 N564D (0.10%), PIK3R1 G376R (0.09%), and PIK3R1 R348* (0.08%) [3].

PIK3R1 GENIE Cases - Top Alterations

Significance of PIK3R1 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Ovarian Carcinoma +

Renal Cell Carcinoma +

Pancreatic Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Malignant Glioma +

Anaplastic Astrocytoma +

Cancer +

Urothelial Carcinoma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Lymphoma +

Prostate Carcinoma +

Sarcoma +

Aggressive Systemic Mastocytosis +

B-Cell Non-Hodgkin Lymphoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Ewing Sarcoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Liposarcoma +

Mast Cell Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Osteosarcoma +

Pecoma +

Peritoneal Mesothelioma +

Small Cell Lung Carcinoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

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 6. 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.