Transcript: ENST00000452335.2 DYTN-201

Description

dystrotelin [Source:HGNC Symbol;Acc:HGNC:23279]

Location

Chromosome 2: 206,651,621-206,718,396 reverse strand.

About this transcript

This transcript has 12 exons, is annotated with 23 domains and features, is associated with 27941 variant alleles and maps to 296 oligo probes.

Gene

This transcript is a product of gene ENSG00000232125.5 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000452335.2	DYTN-201	2051	578aa	ENSP00000396593.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46502	A2CJ06	NM_001093730.1	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000477734.2	DYTN-202	991	117aa	ENSP00000499411.1	Nonsense mediated decay		A0A590UJG6	-	TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000674258.1	DYTN-203	2485	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-

Summary

Statistics

Exons: 12, Coding exons: 12, Transcript length: 2,051 bps, Translation length: 578 residues

MANE

This MANE Select transcript contains ENSP00000396593 and matches to NM_001093730.1 and NP_001087199.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: A2CJ06

CCDS

This transcript is a member of the Human CCDS set: CCDS46502

Transcript Support Level (TSL)

TSL:1

Version

ENST00000452335.2

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.

GENCODE basic gene

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

Transcript: ENST00000452335.2 DYTN-201

Summary

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Transcript: ENST00000452335.2 DYTN-201

Summary

About Us

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