Description

frataxin [Source:HGNC Symbol;Acc:HGNC:3951]

Synonyms

CyaY, FA, FARR, FRDA, X25

Location
About this transcript

This transcript has 5 exons, is annotated with 13 domains and features, is associated with 109 variations and maps to 15 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
FXN-001ENST000003772702608210aaENSP00000366482
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS6626Q16595 NM_000144
NP_000135
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
FXN-201ENST00000396364980171aaENSP00000379650
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS55313Q16595 NM_001161706
NP_001155178
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
FXN-004ENST00000396366922196aaENSP00000379652
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS43834Q16595 NM_181425
NP_852090
TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
FXN-003ENST00000498653856135aaENSP00000418015
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JAX1 -TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT2APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species
Glossary entry for APPRIS
APPRIS website
FXN-005ENST00000484259359108aaENSP00000419243
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C585 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Statistics

Exons: 5 Coding exons: 5 Transcript length: 2,608 bps Translation length: 210 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS6626

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q16595

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000377270.6

Type

Known protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays