Description
dyskeratosis congenita 1, dyskerin
Synonyms
NAP57, XAP101, dyskerin, Cbf5, NOLA4
Location
Chromosome X: 154,762,756-154,777,689 forward strand.
VEGA68:CM000685.2
About this gene
This gene has 12 transcripts (splice variants) and 3 orthologues.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| DKC1-001 | OTTHUMT00000061180.5 | 2577 | 514aa | OTTHUMP00000026046 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS14761 | O60832 | |
| DKC1-008 | OTTHUMT00000316151.2 | 851 | 258aa | OTTHUMP00000196181 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | C9IYT0 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| DKC1-010 | OTTHUMT00000316153.2 | 686 | 229aa | OTTHUMP00000196182 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H7C0M1 | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
| DKC1-005 | OTTHUMT00000061184.5 | 843 | 207aa | OTTHUMP00000198771 | 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 | - | H7C2Q2 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| DKC1-012 | OTTHUMT00000316155.2 | 708 | 169aa | OTTHUMP00000199820 | 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 | - | H7C2Q9 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| DKC1-011 | OTTHUMT00000316154.2 | 670 | 76aa | OTTHUMP00000199819 | 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 | - | H7BZF2 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| DKC1-003 | OTTHUMT00000061182.3 | 902 | 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 | - | - | |
| DKC1-009 | OTTHUMT00000316152.1 | 656 | 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 | - | - | |
| DKC1-006 | OTTHUMT00000127557.1 | 406 | 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 | - | - | |
| DKC1-004 | OTTHUMT00000061183.2 | 819 | 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 | - | - | |
| DKC1-002 | OTTHUMT00000061181.3 | 671 | 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 | - | - | |
| DKC1-007 | OTTHUMT00000316150.1 | 587 | 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 | - | - |
