Transcript: ENST00000379374.4 PHEX-001

Description

phosphate regulating endopeptidase homolog, X-linked [Source:HGNC Symbol;Acc:8918]

Gene Synonyms

HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH

Location

Chromosome X: 22,050,559-22,269,427 forward strand.

About this transcript

This transcript has 22 exons, is annotated with 15 domains and features, is associated with 68983 variant alleles and maps to 828 oligo probes.

Gene

This transcript is a product of gene ENSG00000102174.7 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000379374.4	PHEX-001	6172	749aa	ENSP00000368682.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14204	B4DWG8 D1LZJ7 P78562	NM_000444.4	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,
ENST00000535894.1	PHEX-202	2891	652aa	ENSP00000439418.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DWG8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000537599.1	PHEX-203	2511	695aa	ENSP00000440362.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D1LZJ7 F5GXU4	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000418858.3	PHEX-201	1788	452aa	ENSP00000443531.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4E334	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475778.1	PHEX-002	564	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 22, Coding exons: 22, Transcript length: 6,172 bps, Translation length: 749 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P78562

CCDS

This transcript is a member of the Human CCDS set: CCDS14204

Version

ENST00000379374.4

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:	OTTHUMT00000056035 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000379374.4 PHEX-001

Summary