Overview

Location [1]
5q13.1
Pathway
PI3K/AKT1/MTOR
Synonyms [1]
IMD36, p85, p85-ALPHA, GRB1, AGM7

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.

Significance of PIK3R1 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Aggressive Systemic Mastocytosis +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Bladder Carcinoma +

Cancer +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Colon Carcinoma +

Desmoid-Type Fibromatosis +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Glioblastoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Liposarcoma +

Lymphoma +

Malignant Glioma +

Mast Cell Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Osteosarcoma +

Pecoma +

Peritoneal Mesothelioma +

Prostate Carcinoma +

Rectal Carcinoma +

Sarcoma +

Small Cell Lung Carcinoma +

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

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Urothelial Carcinoma +

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.