Human (GRCh38.p14)
Description

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

Gene Synonyms

HPDR, HPDR1, HYP, HYP1, PEX, XLH

Location
About this transcript

This transcript has 22 exons, is annotated with 17 domains and features, is associated with 69002 variant alleles and maps to 828 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000379374.5PHEX-2016288749aaENSP00000368682.4
 
Protein coding
CCDS14204P78562 NM_000444.6MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000684356.1PHEX-2102128267aaENSP00000507619.1
 
Protein coding
A0A804HJR7 -GENCODE basic
ENST00000684143.1PHEX-2091709428aaENSP00000508264.1
 
Protein coding
A0A804HLA0 -CDS 3' incomplete
ENST00000682888.1PHEX-204653171aaENSP00000508003.1
 
Protein coding
A0A804HKN7 --
ENST00000683162.1PHEX-2052495246aaENSP00000508059.1
 
Nonsense mediated decay
A0A804HKT0 --
ENST00000683289.1PHEX-2072159242aaENSP00000508195.1
 
Nonsense mediated decay
A0A804HL45 --
ENST00000684745.1PHEX-2112332No protein-
 
Protein coding CDS not defined
---
ENST00000683917.1PHEX-2081262No protein-
 
Protein coding CDS not defined
---
ENST00000475778.2PHEX-2033222No protein-
 
Retained intron
--TSL:5
ENST00000683214.1PHEX-206777No protein-
 
Retained intron
---
ENST00000456621.1PHEX-202389No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 22, Coding exons: 22, Transcript length: 6,288 bps, Translation length: 749 residues

MANE

This MANE Select transcript contains ENSP00000368682 and matches to NM_000444.6 and NP_000435.3

Uniprot

This transcript corresponds to the following Uniprot identifiers: P78562

CCDS

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

Transcript Support Level (TSL)

TSL:1

Version

ENST00000379374.5

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.

GENCODE basic gene

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