Human (GRCh38.p14)
Description

EPM2A glucan phosphatase, laforin [Source:HGNC Symbol;Acc:HGNC:3413]

Gene Synonyms

LD, LDE

About this transcript

This transcript has 4 exons, is annotated with 9 domains and features, is associated with 25560 variant alleles and maps to 183 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000367519.9EPM2A-2013129331aaENSP00000356489.3
 
Protein coding
CCDS5206O95278-1 NM_005670.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000639423.1EPM2A-2162886193aaENSP00000492701.1
 
Protein coding
CCDS87452O95278-8 -GENCODE basicTSL:1
ENST00000611340.5EPM2A-2072786193aaENSP00000480268.1
 
Protein coding
CCDS87452O95278-8 -GENCODE basicTSL:2
ENST00000638262.1EPM2A-2082679224aaENSP00000492876.1
 
Protein coding
CCDS87453O95278-5 -GENCODE basicTSL:1
ENST00000639465.1EPM2A-2172203193aaENSP00000491180.1
 
Protein coding
CCDS87452O95278-8 -GENCODE basicTSL:5
ENST00000638717.1EPM2A-2112118209aaENSP00000491330.1
 
Protein coding
A0A1W2PPT8 -TSL:5CDS 5' incomplete
ENST00000435470.2EPM2A-2021278317aaENSP00000405913.2
 
Protein coding
CCDS87454O95278-2 -GENCODE basicTSL:1
ENST00000638778.1EPM2A-212813193aaENSP00000491353.1
 
Protein coding
CCDS87452O95278-8 -GENCODE basicTSL:4
ENST00000638783.1EPM2A-213801193aaENSP00000491338.1
 
Protein coding
CCDS87452O95278-8 -GENCODE basicTSL:5
ENST00000450221.6EPM2A-203659144aaENSP00000414900.2
 
Protein coding
H0Y7S8 -TSL:3CDS 5' incomplete
ENST00000640980.1EPM2A-22864786aaENSP00000491191.1
 
Protein coding
A0A1W2PPJ6 -GENCODE basicTSL:3
ENST00000639049.1EPM2A-2143335127aaENSP00000491590.1
 
Nonsense mediated decay
A0A1W2PQ84 -TSL:1CDS 5' incomplete
ENST00000638554.1EPM2A-2093045134aaENSP00000492823.1
 
Nonsense mediated decay
A0A1W2PRS5 -TSL:5CDS 5' incomplete
ENST00000640225.1EPM2A-223151670aaENSP00000492179.1
 
Nonsense mediated decay
A0A1W2PRC9 -TSL:5
ENST00000640351.1EPM2A-225138818aaENSP00000491251.1
 
Nonsense mediated decay
A0A1W2PP62 -TSL:5CDS 5' incomplete
ENST00000639849.1EPM2A-22180470aaENSP00000491224.1
 
Nonsense mediated decay
A0A1W2PRC9 -TSL:3
ENST00000638597.1EPM2A-2101873No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000640426.2EPM2A-226752No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000496228.2EPM2A-206560No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000461700.1EPM2A-204555No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000639648.1EPM2A-218551No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000489412.1EPM2A-205497No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000640297.1EPM2A-224374No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000640898.1EPM2A-227322No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000639859.1EPM2A-2226926No protein-
 
Retained intron
--TSL:3
ENST00000639106.1EPM2A-2155533No protein-
 
Retained intron
--TSL:NA
ENST00000639799.1EPM2A-2203649No protein-
 
Retained intron
--TSL:1
ENST00000639649.1EPM2A-219849No protein-
 
Retained intron
--TSL:NA
Statistics

Exons: 4, Coding exons: 3, Transcript length: 813 bps, Translation length: 193 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O95278

CCDS

This transcript is a member of the Human CCDS set: CCDS87452

Transcript Support Level (TSL)

TSL:4

Version

ENST00000638778.1

Type

Protein coding

Annotation Method

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

Annotation Attributes

not organism-supported [Definitions]

GENCODE basic gene

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