Transcript: ENST00000292147.2 ETHE1-001

Description

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

Gene Synonyms

HSCO, YF13H12

Location

About this transcript

This transcript has 7 exons, is annotated with 6 domains and features, is associated with 10123 variant alleles and maps to 405 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: 7, Coding exons: 7, Transcript length: 963 bps, Translation length: 254 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O95571

CCDS

This transcript is a member of the Human CCDS set: CCDS12622

Version

ENST00000292147.2

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:	OTTHUMT00000463184 (version 1)

GENCODE basic gene

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