PIGL (phosphatidylinositol glycan anchor biosynthesis class L)

2003-05-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
CHIME
FUSION GENES

Other Information

Locus ID:

NCBI: 9487
MIM: 605947
HGNC: 8966
Ensembl: ENSG00000108474

Variants:

dbSNP: 9487
ClinVar: 9487
TCGA: ENSG00000108474
COSMIC: PIGL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108474ENST00000225609Q9Y2B2
ENSG00000108474ENST00000395844A8MTV0
ENSG00000108474ENST00000463810A0A096LPK2
ENSG00000108474ENST00000470116J3QQI7
ENSG00000108474ENST00000581006J3KSD1
ENSG00000108474ENST00000584797J3QLG8
ENSG00000108474ENST00000585034B4DJK6
ENSG00000108474ENST00000596678M0QYT4

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
GPI-anchor biosynthesis, core oligosaccharideKEGGhsa_M00065
GPI-anchor biosynthesis, core oligosaccharideKEGGM00065
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Synthesis of glycosylphosphatidylinositol (GPI)REACTOMER-HSA-162710

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
224446712012Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.46
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.22
257063562015Mutations in PIGL in a patient with Mabry syndrome.13
283714792017Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.4

Citation

Dessen P

PIGL (phosphatidylinositol glycan anchor biosynthesis class L)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41710/pigl