Human (GRCh37.p13)
Description

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

Gene Synonyms

ACA56, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, dyskerin, hsa-mir-664b

Location

Chromosome X: 153,991,031-154,005,964 forward strand.

GRCh37:CM000685.1

View alleles of this gene on alternative sequences

About this gene

This gene has 12 transcripts (splice variants), 1 gene allele and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000369550.5DKC1-0012577514aaENSP00000358563.5
 
Protein coding
CCDS14761O60832 NM_001363.3GENCODE basic
ENST00000413910.1DKC1-008851258aaENSP00000400542.1
 
Protein coding
C9IYT0 -CDS 3' incomplete
ENST00000437719.1DKC1-010686229aaENSP00000395693.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000426673.1DKC1-005759208aaENSP00000407253.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000452771.1DKC1-012708169aaENSP00000407325.1
 
Nonsense mediated decay
H7C2Q9 -CDS 5' incomplete
ENST00000412124.1DKC1-01167076aaENSP00000389304.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000475966.1DKC1-003902No protein-
 
Processed transcript
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ENST00000473552.1DKC1-009656No protein-
 
Processed transcript
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ENST00000492372.1DKC1-006406No protein-
 
Processed transcript
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ENST00000481062.1DKC1-004819No protein-
 
Retained intron
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ENST00000484317.1DKC1-002671No protein-
 
Retained intron
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ENST00000475423.1DKC1-007587No protein-
 
Retained intron
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