Transcript: ENST00000238633.2 NPC2-008

Description

Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]

Gene Synonyms

EDDM1, HE1, NP-C2

Location

Chromosome 14: 74,946,645-74,959,994 reverse strand.

About this transcript

This transcript has 5 exons, is annotated with 8 domains and features, is associated with 5359 variant alleles and maps to 332 oligo probes.

Gene

This transcript is a product of gene ENSG00000119655.4 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000555619.1	NPC2-001	1035	151aa	ENSP00000451112.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32121	P61916	NM_006432.3	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541064.1	NPC2-002	1436	125aa	ENSP00000442488.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DQV7 G3V2V8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000557510.1	NPC2-007	1029	174aa	ENSP00000451206.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V3E8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000434013.2	NPC2-003	875	201aa	ENSP00000412103.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EMS2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000238633.2	NPC2-008	796	148aa	ENSP00000238633.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KMY5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000553490.1	NPC2-006	729	221aa	ENSP00000451180.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V3D1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000556009.1	NPC2-004	699	173aa	ENSP00000450502.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000555592.1	NPC2-005	469	122aa	ENSP00000450887.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2V8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000554482.1	NPC2-009	583	53aa	ENSP00000451314.1	Nonsense mediated decay		H0YJE2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

Summary

Statistics

Exons: 5, Coding exons: 5, Transcript length: 796 bps, Translation length: 148 residues

Version

ENST00000238633.2

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:	OTTHUMT00000412348 (version 1)

GENCODE basic gene

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

EMBL-EBI User Survey 2024

Favourite species

All species

Recent locations

Transcript: ENST00000238633.2 NPC2-008

Summary