dyskeratosis congenita 1, dyskerin [Source:HGNC Symbol;Acc:2890]
ACA56, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, dyskerin, hsa-mir-664b
Chromosome X: 153,991,166-153,997,566 forward strand.
This transcript has 9 exons, is annotated with 6 domains and features, is associated with 2363 variant alleles and maps to 199 oligo probes.
This transcript is a product of gene ENSG00000130826.11 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000369550.5 | DKC1-001 | 2577 | 514aa | ENSP00000358563.5 | Protein coding | CCDS14761 | O60832 | NM_001363.3 | GENCODE basic, |
ENST00000413910.1 | DKC1-008 | 851 | 258aa | ENSP00000400542.1 | Protein coding | C9IYT0 | - | CDS 3' incomplete, | |
ENST00000437719.1 | DKC1-010 | 686 | 229aa | ENSP00000395693.1 | Protein coding | - | - | CDS 5' and 3' incomplete, | |
ENST00000426673.1 | DKC1-005 | 759 | 208aa | ENSP00000407253.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000452771.1 | DKC1-012 | 708 | 169aa | ENSP00000407325.1 | Nonsense mediated decay | H7C2Q9 | - | CDS 5' incomplete, | |
ENST00000412124.1 | DKC1-011 | 670 | 76aa | ENSP00000389304.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000475966.1 | DKC1-003 | 902 | No protein | - | Processed transcript | - | - | - | |
ENST00000473552.1 | DKC1-009 | 656 | No protein | - | Processed transcript | - | - | - | |
ENST00000492372.1 | DKC1-006 | 406 | No protein | - | Processed transcript | - | - | - | |
ENST00000481062.1 | DKC1-004 | 819 | No protein | - | Retained intron | - | - | - | |
ENST00000484317.1 | DKC1-002 | 671 | No protein | - | Retained intron | - | - | - | |
ENST00000475423.1 | DKC1-007 | 587 | No protein | - | Retained intron | - | - | - |