Description

dyskeratosis congenita 1, dyskerin [Source:HGNC Symbol;Acc:HGNC:2890]

Synonyms

DKC, dyskerin, NAP57, NOLA4, XAP101

Location

Chromosome X: 154,762,742-154,777,689 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 13 transcripts (splice variants), 70 orthologues, is a member of 2 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
DKC1-201ENST000006202773079420aaENSP00000478387
 
Protein coding
CCDS76062O60832 NM_001288747
NP_001275676
TSL:1GENCODE basicAPPRIS ALT2
DKC1-001ENST000003695502577514aaENSP00000358563
 
Protein coding
CCDS14761O60832 NM_001142463
NM_001363
NP_001135935
NP_001354
TSL:1GENCODE basicAPPRIS P3
DKC1-008ENST00000413910851259aaENSP00000400542
 
Protein coding
-C9IYT0 -CDS 3' incompleteTSL:5
DKC1-010ENST00000437719686229aaENSP00000395693
 
Protein coding
-H7C0M1 -CDS 5' and 3' incompleteTSL:3
DKC1-005ENST00000426673843207aaENSP00000407253
 
Nonsense mediated decay
-H7C2Q2 -CDS 5' incompleteTSL:5
DKC1-012ENST00000452771708169aaENSP00000407325
 
Nonsense mediated decay
-H7C2Q9 -CDS 5' incompleteTSL:5
DKC1-011ENST0000041212467076aaENSP00000389304
 
Nonsense mediated decay
-H7BZF2 -CDS 5' incompleteTSL:5
DKC1-003ENST00000475966902No protein-
 
Processed transcript
---TSL:5
DKC1-009ENST00000473552656No protein-
 
Processed transcript
---TSL:2
DKC1-006ENST00000492372406No protein-
 
Processed transcript
---TSL:2
DKC1-004ENST00000481062819No protein-
 
Retained intron
---TSL:2
DKC1-002ENST00000484317671No protein-
 
Retained intron
---TSL:2
DKC1-007ENST00000475423587No protein-
 
Retained intron
---TSL:2

Gene-based displays