Transcript: ENST00000475447.2 HGD-005

Description

homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:4892]

Gene Synonyms

AKU, HGO

Location

Chromosome 3: 120,352,180-120,365,899 reverse strand.

About this transcript

This transcript has 5 exons, is annotated with 4 domains and features, is associated with 5892 variant alleles and maps to 266 oligo probes.

Gene

This transcript is a product of gene ENSG00000113924.7 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000283871.5	HGD-001	2005	445aa	ENSP00000283871.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3000	B3KW64 Q93099	NM_000187.3	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,
ENST00000494453.1	HGD-006	683	145aa	ENSP00000419163.1	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,
ENST00000475447.2	HGD-005	565	88aa	ENSP00000417977.2	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,
ENST00000476082.2	HGD-010	462	142aa	ENSP00000419560.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JTX9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000492108.1	HGD-009	631	98aa	ENSP00000419838.1	Nonsense mediated decay		H7C5G7	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000488183.1	HGD-003	572	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000485313.1	HGD-007	528	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000480862.1	HGD-002	656	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000470321.1	HGD-004	528	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000466528.1	HGD-008	444	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: 5, Coding exons: 4, Transcript length: 565 bps, Translation length: 88 residues

Incomplete CDS

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

Version

ENST00000475447.2

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000355414 (version 2)

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Transcript: ENST00000475447.2 HGD-005

Summary