Transcript: ENST00000463290.1 MPZ-002

Description

myelin protein zero [Source:HGNC Symbol;Acc:7225]

Gene Synonyms

CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0

Location

Chromosome 1: 161,274,525-161,279,744 reverse strand.

About this transcript

This transcript has 7 exons, is annotated with 22 domains and features, is associated with 3247 variant alleles and maps to 443 oligo probes.

Gene

This transcript is a product of gene ENSG00000158887.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000533357.1	MPZ-001	1955	248aa	ENSP00000432943.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1229	E9PL80 P25189	NM_000530.6	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000360451.6	MPZ-202	1951	258aa	ENSP00000353634.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PL80 P25189	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000491222.2	MPZ-005	1824	52aa	ENSP00000431441.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PL80	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000336559.4	MPZ-201	820	250aa	ENSP00000337777.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EWP3 Q14902	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000463290.1	MPZ-002	1693	248aa	ENSP00000431538.1	Nonsense mediated decay	CCDS1229	E9PL80 P25189	-	-
ENST00000526189.1	MPZ-006	957	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000476410.1	MPZ-003	878	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000488271.1	MPZ-004	366	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: 6, Transcript length: 1,693 bps, Translation length: 248 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P25189

CCDS

This transcript is a member of the Human CCDS set: CCDS1229

Version

ENST00000463290.1

Type

Nonsense mediated decay

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:	OTTHUMT00000082988 (version 3)

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Transcript: ENST00000463290.1 MPZ-002

Summary