Overview

Location [1]
Xp11.4
Protein [2]
X-linked retinitis pigmentosa GTPase regulator
Synonyms [1]
PCDX, RP3, CRD, COD1, orf15, RP15, XLRP3, CORDX1

RPGR is altered in 1.07% of all cancers with breast invasive ductal carcinoma, breast invasive lobular carcinoma, and mixed lobular and ductal breast carcinoma having the greatest prevalence of alterations [3].

RPGR GENIE Cases - Top Diseases

The most common alterations in RPGR are RPGR Amplification (0.21%), RPGR Loss (0.08%), RPGR A372S (0.04%), RPGR A83T (0.04%), and RPGR D158N (0.04%) [3].

RPGR GENIE Cases - Top Alterations

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.