Description
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Location
Chromosome 6: 145,625,304-145,735,855 reverse strand.
About this transcript
This transcript has 4 exons and is annotated with 17 domains and features.
Gene
This transcript is a product of gene OTTHUMG00000015747 Show transcript tableHide transcript table
Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
---|---|---|---|---|---|---|---|---|
EPM2A-002 | OTTHUMT00000042564.3 | 3465 | 331aa | OTTHUMP00000017360 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS5206 | O95278 | |
EPM2A-008 | OTTHUMT00000491179.1 | 2886 | 193aa | OTTHUMP00000282998 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-007 | OTTHUMT00000491180.2 | 2786 | 193aa | OTTHUMP00000282999 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-009 | OTTHUMT00000491186.2 | 2679 | 224aa | OTTHUMP00000283000 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-013 | OTTHUMT00000491196.2 | 2203 | 193aa | OTTHUMP00000283004 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-027 | OTTHUMT00000491209.1 | 2118 | 209aa | OTTHUMP00000283010 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
EPM2A-004 | OTTHUMT00000042566.2 | 1278 | 317aa | OTTHUMP00000017361 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0Y6I8 | |
EPM2A-020 | OTTHUMT00000491202.2 | 813 | 193aa | OTTHUMP00000283008 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-022 | OTTHUMT00000491206.1 | 801 | 193aa | OTTHUMP00000283007 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-001 | OTTHUMT00000042563.3 | 659 | 144aa | OTTHUMP00000017359 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
EPM2A-017 | OTTHUMT00000491198.1 | 647 | 86aa | OTTHUMP00000283003 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
EPM2A-010 | OTTHUMT00000491194.1 | 3335 | 127aa | OTTHUMP00000283002 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
EPM2A-014 | OTTHUMT00000491195.2 | 3045 | 134aa | OTTHUMP00000283011 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
EPM2A-024 | OTTHUMT00000491205.1 | 1516 | 70aa | OTTHUMP00000283006 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
EPM2A-025 | OTTHUMT00000491204.1 | 1388 | 18aa | OTTHUMP00000283005 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
EPM2A-005 | OTTHUMT00000042567.3 | 804 | 70aa | OTTHUMP00000283009 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
EPM2A-026 | OTTHUMT00000491210.1 | 1873 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-019 | OTTHUMT00000491203.2 | 560 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-003 | OTTHUMT00000042565.1 | 555 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-023 | OTTHUMT00000491207.2 | 551 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-006 | OTTHUMT00000042568.1 | 497 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-021 | OTTHUMT00000491208.1 | 495 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-018 | OTTHUMT00000491199.1 | 374 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-016 | OTTHUMT00000491200.1 | 322 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
EPM2A-028 | OTTHUMT00000491211.1 | 6926 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
EPM2A-015 | OTTHUMT00000491197.1 | 5533 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
EPM2A-012 | OTTHUMT00000491193.1 | 3649 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
EPM2A-011 | OTTHUMT00000491201.1 | 849 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |