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 1.81% of all cancers with lung adenocarcinoma, colon adenocarcinoma, glioblastoma, melanoma, and breast invasive ductal 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 +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Endometrial Carcinoma +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Colorectal Carcinoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Lung Adenocarcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Cancer +

Malignant Ovarian Epithelial Tumor +

Melanoma +

Malignant Esophagogastric Neoplasm +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Bladder Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Kidney Carcinoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Gastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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 6. 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.