Description
Leber congenital amaurosis 5 (human)
Location
Chromosome 9: 83,390,293-83,441,127 reverse strand.
About this gene
This gene has 9 transcripts (splice variants).
Transcripts
Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
---|---|---|---|---|---|---|---|---|
Lca5-001 | OTTMUST00000039819.1 | 4160 | 704aa | OTTMUSP00000017764 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS23374 | G5E886 | |
Lca5-002 | OTTMUST00000039818.2 | 2001 | 419aa | OTTMUSP00000017763 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS23373 | - | |
Lca5-007 | OTTMUST00000039824.2 | 884 | 176aa | OTTMUSP00000017766 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
Lca5-005 | OTTMUST00000039822.3 | 358 | 14aa | OTTMUSP00000017765 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
Lca5-004 | OTTMUST00000039821.2 | 2196 | 453aa | OTTMUSP00000065133 | 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 | - | - | |
Lca5-006 | OTTMUST00000039823.1 | 345 | 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 | - | - | |
Lca5-003 | OTTMUST00000039820.2 | 1728 | 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 | - | - | |
Lca5-009 | OTTMUST00000118230.1 | 502 | 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 | - | - | |
Lca5-008 | OTTMUST00000039825.1 | 320 | 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 | - | - |