Description

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

Synonyms

DKC, dyskerin, NAP57, NOLA4, XAP101

Gene

This transcript is a product of gene ENSG00000130826

This gene has 13 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
DKC1-001ENST000003695502577 bp514 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14761O60832 NM_001142463
NM_001363
NP_001135935
NP_001354
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
DKC1-201ENST000006202773079 bp420 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
--NM_001288747
NP_001275676
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
DKC1-008ENST00000413910851 bp259 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9IYT0 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DKC1-010ENST00000437719686 bp229 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.
DKC1-005ENST00000426673843 bp207 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
DKC1-012ENST00000452771708 bp169 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H7C2Q9 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
DKC1-011ENST00000412124670 bp76 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
DKC1-003ENST00000475966902 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
--NR_049842
NR_110023
DKC1-009ENST00000473552656 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
--NR_110022
DKC1-006ENST00000492372406 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
DKC1-004ENST00000481062819 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
--NR_002984
DKC1-002ENST00000484317671 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
DKC1-007ENST00000475423587 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
Statistics

Exons: 15 Coding exons: 15 Transcript length: 2,577 bps Translation length: 514 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS14761

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60832

Ensembl version

ENST00000369550.6

Type

Known protein coding

Prediction Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays