Human (GRCh38.p14)
Description

dyskerin pseudouridine synthase 1 [Source:HGNC Symbol;Acc:HGNC:2890]

Gene Synonyms

CBF5, DKC, DYSKERIN, NAP57, NOLA4, XAP101

About this transcript

This transcript has 16 exons, is annotated with 1 domain and feature, is associated with 5325 variant alleles and maps to 619 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000369550.10DKC1-2012469514aaENSP00000358563.5
 
Protein coding
CCDS14761O60832-1 NM_001363.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000696588.1DKC1-2263463311aaENSP00000513251.1
 
Protein coding
A0A8V8TKY9 -GENCODE basic
ENST00000696577.1DKC1-2152867504aaENSP00000512731.1
 
Protein coding
A0A8Q3SJE8 -GENCODE basicAPPRIS ALT2
ENST00000696628.1DKC1-2322412508aaENSP00000512765.1
 
Protein coding
A0A8Q3SIS9 -GENCODE basicAPPRIS ALT2
ENST00000696583.1DKC1-2212384501aaENSP00000512736.1
 
Protein coding
A0A8Q3WLC8 -GENCODE basic
ENST00000696580.1DKC1-2182354485aaENSP00000512733.1
 
Protein coding
A0A8Q3WLD1 -GENCODE basic
ENST00000696587.1DKC1-2252236474aaENSP00000512737.1
 
Protein coding
A0A8Q3WLG7 -GENCODE basic
ENST00000696575.1DKC1-2132004509aaENSP00000512730.1
 
Protein coding
CCDS94705A0A8Q3SIY6 -GENCODE basicAPPRIS ALT2
ENST00000426673.6DKC1-2042571183aaENSP00000407253.3
 
Nonsense mediated decay
H7C2Q2 -TSL:5
ENST00000696581.1DKC1-219255349aaENSP00000512734.1
 
Nonsense mediated decay
A0A8Q3WLE5 --
ENST00000413910.6DKC1-2032516380aaENSP00000400542.2
 
Nonsense mediated decay
C9IYT0 -TSL:5
ENST00000696627.1DKC1-2312419390aaENSP00000512764.1
 
Nonsense mediated decay
A0A8Q3SIX2 --
ENST00000696578.1DKC1-2162322308aaENSP00000512732.1
 
Nonsense mediated decay
A0A8Q3WLE4 --
ENST00000696582.1DKC1-2202292220aaENSP00000512735.1
 
Nonsense mediated decay
A0A8Q3WLW8 --
ENST00000475966.1DKC1-208902No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000437719.5DKC1-205686No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000412124.5DKC1-202670No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000696592.1DKC1-2305107No protein-
 
Retained intron
---
ENST00000696590.1DKC1-2283368No protein-
 
Retained intron
---
ENST00000696579.1DKC1-2173357No protein-
 
Retained intron
---
ENST00000620277.4DKC1-2123079No protein-
 
Retained intron
--TSL:1
ENST00000484317.6DKC1-2102617No protein-
 
Retained intron
--TSL:2
ENST00000696585.1DKC1-2232482No protein-
 
Retained intron
---
ENST00000696584.1DKC1-2222363No protein-
 
Retained intron
---
ENST00000696586.1DKC1-2242256No protein-
 
Retained intron
---
ENST00000696589.1DKC1-2272116No protein-
 
Retained intron
---
ENST00000696591.1DKC1-2291687No protein-
 
Retained intron
---
ENST00000492372.2DKC1-2111303No protein-
 
Retained intron
--TSL:2
ENST00000696576.1DKC1-2141181No protein-
 
Retained intron
---
ENST00000481062.1DKC1-209819No protein-
 
Retained intron
--TSL:2
ENST00000473552.1DKC1-206656No protein-
 
Retained intron
--TSL:2
ENST00000475423.1DKC1-207587No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 16, Coding exons: 13, Transcript length: 2,516 bps, Translation length: 380 residues

Transcript Support Level (TSL)

TSL:5

Version

ENST00000413910.6

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Annotation Attributes

RNA-Seq supported partial [Definitions]