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 15 exons, is annotated with 29 domains and features, is associated with 5269 variant alleles and maps to 618 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

Protein domains for ENSP00000358563.5