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	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000394634.2	CFI-201	2157	583aa	ENSP00000378130.2	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000394635.3	CFI-006	2053	591aa	ENSP00000378131.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9Z8 E7ETH0 Q6LAM0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000512148.1	CFI-001	1914	576aa	ENSP00000427438.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9Z8 G3XAM2 Q6LAM0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000510800.1	CFI-004	667	161aa	ENSP00000422009.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9Z8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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		-	-	-

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Gene: CFI ENSG00000205403

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Gene: CFI ENSG00000205403

Summary