Transcript: ENST00000352845.3 PKP1-004

Description

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) [Source:HGNC Symbol;Acc:9023]

Gene Synonyms

B6P

Location

About this transcript

This transcript has 14 exons, is annotated with 16 domains and features, is associated with 20961 variant alleles and maps to 484 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263946.3	PKP1-201	5447	747aa	ENSP00000263946.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS30966	B4DRX5 Q13835	NM_000299.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000367324.3	PKP1-001	5384	726aa	ENSP00000356293.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS30967	B4DRX5 Q13835 Q14BN3	NM_001005337.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000352845.3	PKP1-004	2244	747aa	ENSP00000295597.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS30966	B4DRX5 Q13835	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475988.1	PKP1-002	931	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000477817.1	PKP1-003	631	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 14, Coding exons: 14, Transcript length: 2,244 bps, Translation length: 747 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q13835

CCDS

This transcript is a member of the Human CCDS set: CCDS30966

Version

ENST00000352845.3

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:	OTTHUMT00000086897 (version 1)

GENCODE basic gene

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