Overview

Location [1]
2p16.1
Pathway
DNA damage/repair
Protein [2]
E3 ubiquitin-protein ligase FANCL
Synonyms [1]
PHF9, FAAP43, POG

Fanconi anemia, complementation group L (FANCL) is a gene that encodes a protein that is a member of the Fanconi anemia complementation group. The protein complex functions in the heterogeneous recessive disorder Fanconi anemia that causes cytogenetic instability, hypersensitivity to DNA crosslinking agents, increases chromosomal breakage, and defective DNA repair. Missense mutations, nonsense mutations, silent mutations, frameshift deletions are observed in cancers such as intestinal cancer, liver cancer, and lung cancer.

FANCL is altered in 1.07% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, uterine corpus neoplasm, breast carcinoma, and melanoma having the greatest prevalence of alterations [3].

FANCL GENIE Cases - Top Diseases

The most common alterations in FANCL are FANCL Mutation (0.19%), FANCL Mutation (germline) (0.19%), FANCL P365Qfs*15 (0.01%), FANCL R221W (0.01%), and FANCL T367Ifs*13 (0.01%) [3].

FANCL GENIE Cases - Top Alterations

Significance of FANCL in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Fallopian Tube Carcinoma +

Colorectal Carcinoma +

Urothelial Carcinoma +

Non-Hodgkin Lymphoma +

Primary Peritoneal Carcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Gastric Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Clear Cell Renal Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Leiomyosarcoma +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mesothelioma +

Multiple Myeloma +

Osteosarcoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Renal Cell Carcinoma +

Soft Tissue Sarcoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar 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.