Transcript: ENST00000435470.1 EPM2A-004

Description

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

Gene Synonyms

EPM2, LD, LDE, MELF

Location

Chromosome 6: 145,946,507-146,056,393 reverse strand.

About this transcript

This transcript has 5 exons, is annotated with 10 domains and features, is associated with 47210 variant alleles and maps to 339 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: 5, Coding exons: 5, Transcript length: 1,037 bps, Translation length: 237 residues

Incomplete CDS

5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete

Version

ENST00000435470.1

Type

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:	OTTHUMT00000042566 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000435470.1 EPM2A-004

Summary