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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
ENST00000600651.1	ETHE1-004	1052	260aa	ENSP00000469037.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0QXB5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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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