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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: FXN ENSG00000165060

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Description

frataxin [Source:HGNC Symbol;Acc:3951]

Gene Synonyms

CyaY, FA, FARR, FRDA, X25

Location

Chromosome 9: 71,650,175-71,715,094 forward strand.

GRCh37:CM000671.1

About this gene

This gene has 5 transcripts (splice variants) and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000377270.3	FXN-001	2608	210aa	ENSP00000366482.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6626	C9JAX1 Q16595	NM_000144.4	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,
ENST00000396364.3	FXN-201	980	171aa	ENSP00000379650.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55313	Q16595	NM_001161706.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000396366.2	FXN-004	922	196aa	ENSP00000379652.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS43834	Q16595	NM_181425.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000498653.1	FXN-003	856	135aa	ENSP00000418015.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JAX1	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000484259.1	FXN-005	359	108aa	ENSP00000419243.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

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Summary

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