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Description

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

About this transcript

This transcript has 4 exons and is annotated with 17 domains and features.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtFlags
EPM2A-002OTTHUMT00000042564.33465331aaOTTHUMP00000017360
 
Protein coding
CCDS5206O95278
EPM2A-008OTTHUMT00000491179.12886193aaOTTHUMP00000282998
 
Protein coding
--
EPM2A-007OTTHUMT00000491180.22786193aaOTTHUMP00000282999
 
Protein coding
--
EPM2A-009OTTHUMT00000491186.22679224aaOTTHUMP00000283000
 
Protein coding
--
EPM2A-013OTTHUMT00000491196.22203193aaOTTHUMP00000283004
 
Protein coding
--
EPM2A-027OTTHUMT00000491209.12118209aaOTTHUMP00000283010
 
Protein coding
--CDS 5' incomplete
EPM2A-004OTTHUMT00000042566.21278317aaOTTHUMP00000017361
 
Protein coding
-H0Y6I8
EPM2A-020OTTHUMT00000491202.2813193aaOTTHUMP00000283008
 
Protein coding
--
EPM2A-022OTTHUMT00000491206.1801193aaOTTHUMP00000283007
 
Protein coding
--
EPM2A-001OTTHUMT00000042563.3659144aaOTTHUMP00000017359
 
Protein coding
--CDS 5' incomplete
EPM2A-017OTTHUMT00000491198.164786aaOTTHUMP00000283003
 
Protein coding
--
EPM2A-010OTTHUMT00000491194.13335127aaOTTHUMP00000283002
 
Nonsense mediated decay
--CDS 5' incomplete
EPM2A-014OTTHUMT00000491195.23045134aaOTTHUMP00000283011
 
Nonsense mediated decay
--CDS 5' incomplete
EPM2A-024OTTHUMT00000491205.1151670aaOTTHUMP00000283006
 
Nonsense mediated decay
--
EPM2A-025OTTHUMT00000491204.1138818aaOTTHUMP00000283005
 
Nonsense mediated decay
--CDS 5' incomplete
EPM2A-005OTTHUMT00000042567.380470aaOTTHUMP00000283009
 
Nonsense mediated decay
--
EPM2A-026OTTHUMT00000491210.11873No protein-
 
Processed transcript
--
EPM2A-019OTTHUMT00000491203.2560No protein-
 
Processed transcript
--
EPM2A-003OTTHUMT00000042565.1555No protein-
 
Processed transcript
--
EPM2A-023OTTHUMT00000491207.2551No protein-
 
Processed transcript
--
EPM2A-006OTTHUMT00000042568.1497No protein-
 
Processed transcript
--
EPM2A-021OTTHUMT00000491208.1495No protein-
 
Processed transcript
--
EPM2A-018OTTHUMT00000491199.1374No protein-
 
Processed transcript
--
EPM2A-016OTTHUMT00000491200.1322No protein-
 
Processed transcript
--
EPM2A-028OTTHUMT00000491211.16926No protein-
 
Retained intron
--
EPM2A-015OTTHUMT00000491197.15533No protein-
 
Retained intron
--
EPM2A-012OTTHUMT00000491193.13649No protein-
 
Retained intron
--
EPM2A-011OTTHUMT00000491201.1849No protein-
 
Retained intron
--
Statistics

Exons: 4 Transcript length: 3,465 bps Translation length: 331 residues

CCDS

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

Class

Known protein coding [Definition]

Author

This transcript was annotated by Havana

Version & date

Version 3, last modified on 08/04/2016 (Created on 06/03/2003)

Alternative symbols

RP1-28C20.2-002

Remarks

epilepsy, progressive myoclonus type 2, Lafora disease protein (laforin)

Other assemblies

This transcript maps to 145,625,304-145,735,855 in GRCh38 (Ensembl) coordinates.

Jump to this stable ID in Ensembl

Alternative transcripts
Ensembl transcript having exact match with Havana:
Curation Method

Manual annotation from Havana

Transcript-based displays