Gene: PKHD1 ENSG00000170927

Description

polycystic kidney and hepatic disease 1 (autosomal recessive) [Source:HGNC Symbol;Acc:9016]

Gene Synonyms

ARPKD, FCYT, TIGM1

Location

GRCh37:CM000668.1

About this gene

This gene has 2 transcripts (splice variants), 119 orthologues, 36 paralogues and is associated with 5 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371117.3	PKHD1-001	16282	4074aa	ENSP00000360158.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4935	P08F94	NM_138694.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000340994.4	PKHD1-002	11589	3396aa	ENSP00000341097.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4936	P08F94	NM_170724.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

Summary