Transcript: ENST00000600651.1 ETHE1-004

Description

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

Gene Synonyms

HSCO, YF13H12

Location

About this transcript

This transcript has 6 exons, is annotated with 6 domains and features, is associated with 9282 variant alleles and maps to 276 oligo probes.

Gene

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		-	-	-

Summary

Statistics

Exons: 6, Coding exons: 6, Transcript length: 1,052 bps, Translation length: 260 residues

Version

ENST00000600651.1

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:	OTTHUMT00000463186 (version 1)

GENCODE basic gene

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