Transcript: ENST00000269980.2 BCKDHA-001

Description

branched chain keto acid dehydrogenase E1, alpha polypeptide [Source:HGNC Symbol;Acc:986]

Gene Synonyms

BCKDE1A, MSU, MSUD1, OVD1A

Location

Chromosome 19: 41,903,365-41,930,910 forward strand.

About this transcript

This transcript has 9 exons, is annotated with 6 domains and features, is associated with 12775 variant alleles and maps to 413 oligo probes.

Gene

This transcript is a product of gene ENSG00000248098.6 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000269980.2	BCKDHA-001	2103	445aa	ENSP00000269980.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12581	P12694 Q59EI3 Q9UMB3	NM_001164783.1	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,
ENST00000595085.1	BCKDHA-201	1833	479aa	ENSP00000471150.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H5P2 Q9UMB3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000457836.2	BCKDHA-002	1745	448aa	ENSP00000416000.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DP47 Q9UMB3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000542943.1	BCKDHA-007	994	328aa	ENSP00000440345.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5GXU9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000541315.1	BCKDHA-004	632	211aa	ENSP00000445809.1	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,
ENST00000544905.1	BCKDHA-006	562	94aa	ENSP00000445727.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000535632.1	BCKDHA-008	615	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000538423.1	BCKDHA-005	816	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000545787.1	BCKDHA-009	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: 9, Coding exons: 9, Transcript length: 2,103 bps, Translation length: 445 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P12694

CCDS

This transcript is a member of the Human CCDS set: CCDS12581

Version

ENST00000269980.2

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000398313 (version 3)

GENCODE basic gene

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

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Recent locations

Transcript: ENST00000269980.2 BCKDHA-001

Summary