Transcript: ENST00000367519.3 EPM2A-002

Description

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) [Source:HGNC Symbol;Acc:3413]

Gene Synonyms

EPM2, LD, LDE, MELF

Location

Chromosome 6: 145,946,441-146,057,160 reverse strand.

About this transcript

This transcript has 4 exons, is annotated with 17 domains and features, is associated with 47796 variant alleles and maps to 545 oligo probes.

Gene

This transcript is a product of gene ENSG00000112425.9 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000367519.3	EPM2A-002	3633	331aa	ENSP00000356489.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5206	H0UI04 O95278	NM_005670.3	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,
ENST00000435470.1	EPM2A-004	1037	237aa	ENSP00000405913.1	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,
ENST00000450221.1	EPM2A-001	736	170aa	ENSP00000414900.1	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,
ENST00000496228.1	EPM2A-005	781	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461700.1	EPM2A-003	555	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000489412.1	EPM2A-006	497	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 4, Coding exons: 4, Transcript length: 3,633 bps, Translation length: 331 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O95278

CCDS

This transcript is a member of the Human CCDS set: CCDS5206

Version

ENST00000367519.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000042564 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000367519.3 EPM2A-002

Summary