Overview

Location [1]
9q22.33
Pathway
TGF-Beta signaling
Protein [2]
TGF-beta receptor type-1
Synonyms [1]
TBRI, AAT5, ALK-5, ACVRLK4, LDS1A, TBR-i, tbetaR-I, MSSE, ALK5, LDS2A, LDS1, SKR4, TGFR-1, ESS1

Transforming growth factor, beta receptor 1 (TGFBR1) is a gene that encodes a serine/threonine protein kinase that forms a heteromeric complex with TGF-beta Type II receptors when bound to the TGF-beta ligand. The protein functions in the transduction of the TGF-beta signal. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and peritoneal cancer.

TGFBR1 is altered in 1.26% of all cancers with lung adenocarcinoma, pancreatic adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

TGFBR1 GENIE Cases - Top Diseases

The most common alterations in TGFBR1 are TGFBR1 Mutation (1.03%), TGFBR1 Loss (0.11%), TGFBR1 A24_A26del (0.06%), TGFBR1 S241L (0.05%), and TGFBR1 Amplification (0.03%) [3].

TGFBR1 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.