Overview

Location [1]
15q26.1
Protein [2]
Fanconi anemia group I protein
Synonyms [1]
KIAA1794

Fanconi anemia complementation group I (FANCI) is a gene that encodes a protein that functions in DNA repair. Missense mutations, synonymous mutations, nonsense mutations, frameshift insertions, and frameshift deletions are observed in cancers such as parathyroid cancer, colon cancer, and skin cancer.

FANCI is altered in 2.11% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, malignant glioma, and head and neck squamous cell carcinoma having the greatest prevalence of alterations [3].

FANCI GENIE Cases - Top Diseases

The most common alterations in FANCI are FANCI Mutation (0.36%), FANCI Mutation (germline) (0.36%), FANCI V467I (0.01%), FANCI N836S (0.01%), and FANCI G422R (0.01%) [3].

FANCI GENIE Cases - Top Alterations

Significance of FANCI in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Colorectal Carcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Gastric Carcinoma +

Urothelial Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Cholangiocarcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Anal Carcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Osteosarcoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

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.