{"doi":"10.1016/j.gene.2021.146104","title":"In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis","abstract":null,"journal":"Gene","year":2022,"id":609869,"datarank":0.31191623125197543,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.0,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1567706,"name":"Ahmad Azfaralariff","orcid":"0000-0001-9162-3833","position":1,"is_corresponding":false},{"id":974016,"name":"Muhammad Zubair","orcid":"0000-0001-6664-5483","position":2,"is_corresponding":false},{"id":1567707,"name":"Ahmed Abdulkareem Najm","orcid":null,"position":3,"is_corresponding":false},{"id":1567708,"name":"Nahid Khalili","orcid":null,"position":4,"is_corresponding":false},{"id":1567709,"name":"Douglas Law","orcid":null,"position":5,"is_corresponding":false},{"id":1323267,"name":"Sabika Firasat","orcid":"0000-0003-4959-7832","position":6,"is_corresponding":false},{"id":1567710,"name":"Shazrul Fazry","orcid":null,"position":7,"is_corresponding":false},{"id":937100,"name":"Muhammad Shahid","orcid":"0000-0001-6506-1785","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis","abstract":"Among the 22 Fanconi anemia (FA) reported genes, 90% of mutational spectra were found in three genes, namely FANCA (64%), FANCC (12%) and FANCG (8%). Therefore, this study aimed to identify the high-risk deleterious variants in three selected genes (FANCA, FANCC, and FANCG) through various computational approaches. The missense variant datasets retrieved from the UCSC genome browser were analyzed for their pathogenicity, stability, and phylogenetic conservancy. A total of 23 alterations, of which 16 in FANCA, 6 in FANCC and one variant in FANCG, were found to be highly deleterious. The native and mutant structures were generated, which demonstrated a profound impact on the respective proteins. Besides, their pathway analysis predicted many other pathways in addition to the Fanconi anemia pathway, homologous recombination, and mismatch repair pathways. Hence, this is the first comprehensive study that can be useful for understanding the genetic signatures in the development of FA.","is_dataset_classified":null,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"34864095","pmcid":null,"openalex_id":"https://openalex.org/W3216431082","authors":[],"funders":[],"total_grants":0,"fwci":0.2221,"citation_percentile":0.49847838,"influential_citations":0,"citation_trend":[{"year":2022,"count":2},{"year":2024,"count":1},{"year":2025,"count":3},{"year":2026,"count":1}],"oa_status":"closed","license":"https://doi.org/10.15223/policy-004","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0378111921006995?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0378111921006995?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.gene.2021.146104","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/34864095","host_type":"repository"}],"fields_of_study":["Photosynthetic Processes and Mechanisms","Genomics and Phylogenetic Studies","DNA Repair Mechanisms","Binding Sites","Computational Biology","Fanconi Anemia","Fanconi Anemia Complementation Group A Protein","Fanconi Anemia Complementation Group C Protein","Fanconi Anemia Complementation Group G Protein","Genetic Association Studies","Genetic Predisposition to Disease","Humans","Models, Molecular","Mutation, Missense","Protein Conformation","Protein Stability"],"mesh_terms":["Binding Sites","Fanconi Anemia","Humans","Models, Molecular","Protein Conformation","Computational Biology","Genetic Predisposition to Disease","Mutation, Missense","Fanconi Anemia Complementation Group A Protein","Fanconi Anemia Complementation Group C Protein","Fanconi Anemia Complementation Group G Protein","Protein Stability","Genetic Association Studies"],"keywords":["FANCA","Fanconi anemia","FANCD2","Biology","Genetics","Missense mutation","Gene","Mutation","DNA repair","variation analysis","In Silico Study","Fancc","Fancg"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Life in Land"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-31T16:53:54.615238Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}