Gene: CFI ENSG00000205403

Description

complement factor I [Source:HGNC Symbol;Acc:5394]

Gene Synonyms

AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF

Location

Chromosome 4: 110,661,852-110,723,335 reverse strand.

GRCh37:CM000666.1

About this gene

This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000394634.2	CFI-201	2157	583aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34049	D6R9Z8 P05156 Q6LAM0	NM_000204.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000394635.3	CFI-006	2053	591aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9Z8 E7ETH0 Q6LAM0	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000512148.1	CFI-001	1914	576aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9Z8 G3XAM2 Q6LAM0	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000510800.1	CFI-004	667	161aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9Z8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000504853.2	CFI-002	2366	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000515512.1	CFI-005	791	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

CFI (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P05156

CCDS

This gene is a member of the Human CCDS set: CCDS34049.1

LRG

LRG_48 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000205403.8

Other assemblies

This gene maps to 109,740,696-109,802,179 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000161109 (version 4)

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Gene: CFI ENSG00000205403

Summary