Transcript: ENST00000369550.5 DKC1-001

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.

About this transcript

This transcript has 15 exons, is annotated with 16 domains and features, is associated with 5325 variant alleles and maps to 686 oligo probes.

Gene

This transcript is a product of gene ENSG00000130826.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000369550.5	DKC1-001	2577	514aa	ENSP00000358563.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14761	O60832	NM_001363.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000413910.1	DKC1-008	851	258aa	ENSP00000400542.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9IYT0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000437719.1	DKC1-010	686	229aa	ENSP00000395693.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000426673.1	DKC1-005	759	208aa	ENSP00000407253.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000452771.1	DKC1-012	708	169aa	ENSP00000407325.1	Nonsense mediated decay		H7C2Q9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000412124.1	DKC1-011	670	76aa	ENSP00000389304.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000475966.1	DKC1-003	902	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473552.1	DKC1-009	656	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000492372.1	DKC1-006	406	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000481062.1	DKC1-004	819	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000484317.1	DKC1-002	671	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000475423.1	DKC1-007	587	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

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

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60832

CCDS

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

Version

ENST00000369550.5

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000061180 (version 5)

GENCODE basic gene

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

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All species

Recent locations

Transcript: ENST00000369550.5 DKC1-001

Summary