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 2.71% of all cancers with lung adenocarcinoma, colon adenocarcinoma, melanoma, breast invasive ductal carcinoma, and glioblastoma having the greatest prevalence of alterations [3].

FANCI GENIE Cases - Top Diseases

The most common alterations in FANCI are FANCI Mutation (2.51%), FANCI Fusion (0.11%), FANCI G422R (0.08%), FANCI V467I (0.08%), and FANCI N836S (0.08%) [3].

FANCI GENIE Cases - Top Alterations

Significance of FANCI in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Gastric Carcinoma +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Colorectal Carcinoma +

Urothelial Carcinoma +

Soft Tissue Sarcoma +

Cervical Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Esophageal Carcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Ewing Sarcoma +

Melanoma +

Medulloblastoma +

Low Grade Ovarian Serous Adenocarcinoma +

Glioma +

Bladder Urothelial Carcinoma +

Malignant Central Nervous System Neoplasm +

Colorectal Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Malignant Intestinal Neoplasm +

Gastric Adenocarcinoma +

Cancer +

Malignant Gastric Neoplasm +

Anal Carcinoma +

Malignant Ovarian Epithelial Tumor +

Malignant Mesothelioma +

Esophageal Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Diffuse Large B-Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Leiomyosarcoma +

Ampulla Of Vater Carcinoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Cholangiocarcinoma +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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.