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
Genomic alignments
Gene tree
Orthologues
Paralogues (Not available)
Families

More views of comparative genomics data, such as multiple alignments and synteny, are available on the Location page for this gene.

Gene-based displays