Transcript: ENST00000273077.4 PNKD-001

Description

paroxysmal nonkinesigenic dyskinesia [Source:HGNC Symbol;Acc:9153]

Gene Synonyms

BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MGC31943, MR-1, MR1, PDC, PKND1, TAHCCP2

Location

Chromosome 2: 219,135,208-219,211,516 forward strand.

About this transcript

This transcript has 10 exons, is annotated with 11 domains and features, is associated with 34088 variant alleles and maps to 441 oligo probes.

Gene

This transcript is a product of gene ENSG00000127838.9 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000273077.4	PNKD-001	3021	385aa	ENSP00000273077.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2411	Q8N490	NM_015488.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000258362.3	PNKD-002	2991	361aa	ENSP00000258362.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2413	Q8N490	NM_022572.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000436005.2	PNKD-007	978	325aa	ENSP00000414400.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q8N490	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000248451.3	PNKD-003	758	142aa	ENSP00000248451.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42816	Q8N490	NM_001077399.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000472650.1	PNKD-005	472	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000494954.1	PNKD-006	248	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000469689.1	PNKD-004	1372	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483797.1	PNKD-008	209	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: 10, Coding exons: 10, Transcript length: 3,021 bps, Translation length: 385 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8N490

CCDS

This transcript is a member of the Human CCDS set: CCDS2411

Version

ENST00000273077.4

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:	OTTHUMT00000256775 (version 2)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000273077.4 PNKD-001

Summary