Transcript: ENST00000514133.1 SGCB-203

Description

sarcoglycan beta [Source:HGNC Symbol;Acc:HGNC:10806]

Gene Synonyms

A3B, LGMD2E, SGC

Location

Chromosome 4: 52,028,829-52,033,640 reverse strand.

About this transcript

This transcript has 4 exons, is annotated with 1 domain and feature, is associated with 2285 variant alleles and maps to 120 oligo probes.

Gene

This transcript is a product of gene ENSG00000163069.13 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000381431.10	SGCB-201	4248	318aa	ENSP00000370839.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3488	Q16585-1	NM_000232.5	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,
ENST00000506357.5	SGCB-202	663	100aa	ENSP00000421235.1	Nonsense mediated decay		H0Y8J3	-	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,
ENST00000514133.1	SGCB-203	599	93aa	ENSP00000425818.1	Nonsense mediated decay		H0YA15	-	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,

Summary

Statistics

Exons: 4, Coding exons: 2, Transcript length: 599 bps, Translation length: 93 residues

Transcript Support Level (TSL)

TSL:5

Incomplete CDS

5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete

Version

ENST00000514133.1

Type

Nonsense mediated decay

Annotation Method

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

Transcript: ENST00000514133.1 SGCB-203

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Transcript: ENST00000514133.1 SGCB-203

Summary

About Us

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