Transcript: ENST00000283871.5 HGD-001

Description

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

Gene Synonyms

AKU, HGO

Location

Chromosome 3: 120,347,020-120,401,418 reverse strand.

About this transcript

This transcript has 14 exons, is annotated with 6 domains and features, is associated with 23006 variant alleles and maps to 728 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	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: 14, Coding exons: 14, Transcript length: 2,005 bps, Translation length: 445 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q93099

CCDS

This transcript is a member of the Human CCDS set: CCDS3000

Version

ENST00000283871.5

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:	OTTHUMT00000355410 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000283871.5 HGD-001

Summary