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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: ETHE1 ENSG00000105755

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Description

ethylmalonic encephalopathy 1 [Source:HGNC Symbol;Acc:23287]

Gene Synonyms

HSCO, YF13H12

Location

Chromosome 19: 44,010,871-44,031,396 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 6 transcripts (splice variants), 3 paralogues and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000292147.2	ETHE1-001	963	254aa	ENSP00000292147.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12622	B2RCZ7 O95571	NM_014297.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000600651.1	ETHE1-004	1052	260aa	ENSP00000469037.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0QXB5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000598330.1	ETHE1-005	915	95aa	ENSP00000469219.1	Nonsense mediated decay		M0QY80	-	-
ENST00000594342.1	ETHE1-002	702	95aa	ENSP00000469652.1	Nonsense mediated decay		M0QY80	-	-
ENST00000602138.1	ETHE1-006	648	51aa	ENSP00000468964.1	Nonsense mediated decay		M0QX80	-	-
ENST00000595115.1	ETHE1-003	593	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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