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
372803932023Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and improves PD-1 blockade therapy by dampening tumor immune evasion.3
372803932023Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and improves PD-1 blockade therapy by dampening tumor immune evasion.3
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.41
283714792017Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.7
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.41
283714792017Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.7
257063562015Mutations in PIGL in a patient with Mabry syndrome.16
257063562015Mutations in PIGL in a patient with Mabry syndrome.16
224446712012Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.59
224446712012Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.59

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-(phosphatidylinositol-glycan-anchor-biosynthesis-class-l)