Overview

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

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 3.20% of all cancers with uterine corpus neoplasm, colorectal adenocarcinoma, malignant glioma, breast carcinoma, and non-small cell lung carcinoma having the greatest prevalence of alterations [3].

PIK3R1 GENIE Cases - Top Diseases

The most common alterations in PIK3R1 are PIK3R1 Mutation (2.97%), PIK3R1 Mutation (somatic) (2.97%), PIK3R1 Loss (0.17%), PIK3R1 X582_splice (0.12%), and PIK3R1 N564D (0.10%) [3].

PIK3R1 GENIE Cases - Top Alterations

Significance of PIK3R1 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Glioblastoma +

Ovarian Carcinoma +

Squamous Cell Lung Carcinoma +

Melanoma +

Pancreatic Carcinoma +

Malignant Glioma +

Anaplastic Astrocytoma +

Head And Neck Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Bladder Carcinoma +

Prostate Carcinoma +

Lymphoma +

Renal Cell Carcinoma +

Hepatocellular Carcinoma +

Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Peritoneal Mesothelioma +

Thyroid Gland Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.