Basic Information

CFI

Full name: complement factor I

Gene type: protein coding

HGNC ID: HGNC:5394

Gene location: 4q25

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/3426

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:5394

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000204.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P05156

AlphaFold: https://alphafold.ebi.ac.uk/entry/P05156

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/217030

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=3426

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+3426

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
CFI AMD without cuticular drusen Intron Variant rs10033900 T>C chr4:109737911 (GRCh38.p13)
CFI AMD Missense Variant rs141853578 C>T chr4:109764664 (GRCh38.p13)
CFI AMD Intron Variant rs1003900 G>T chr7:79452967 (GRCh38.p13)
CFI exudative AMD Intron Variant rs6854876 C>G / C>T chr4:109732284 (GRCh38.p13)
CFI exudative AMD Intron Variant rs2346841 G>A chr4:109733484 (GRCh38.p13)
CFI exudative AMD Intron Variant rs13117504 C>G / C>T chr4:109737700 (GRCh38.p13)
CFI exudative AMD Intron Variant rs11726949 T>A / T>C / T>G chr4:109743474 (GRCh38.p13)
CFI exudative AMD Intron Variant rs6848178 T>A / T>C / T>G chr4:109745015 (GRCh38.p13)
CFI exudative AMD Intron Variant rs6822976 G>A chr4:109745136 (GRCh38.p13)
CFI exudative AMD Intron Variant rs9998151 T>C chr4:109746189 (GRCh38.p13)
CFI exudative AMD Intron Variant rs4698784 A>C / A>T chr4:109748105 (GRCh38.p13)
CFI exudative AMD Intron Variant rs11098043 A>G chr4:109751129 (GRCh38.p13)
CFI exudative AMD Intron Variant rs13129180 T>A / T>C / T>G chr4:109765257 (GRCh38.p13)
CFI exudative AMD Intron Variant rs1000954 C>A / C>T chr4:109788878 (GRCh38.p13）
CFI exudative AMD Intron Variant rs4698788 T>C chr4:109798378 (GRCh38.p13)
CFI exudative AMD Intron Variant rs7675460 C>A / C>T chr4:109799432 (GRCh38.p13)
CFI exudative AMD Intron Variant rs4698792 T>A / T>C chr4:109808148 (GRCh38.p13)
CFI nAMD rs2285714