Property Summary

NCBI Gene PubMed Count 16
Grant Count 10
R01 Count 7
Funding $1,026,706.91
PubMed Score 80.68
PubTator Score 23.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
osteosarcoma -1.253 0.019
posterior fossa group A ependymoma 1.300 0.000
tuberculosis 1.100 0.000
Pick disease -1.100 0.000
ovarian cancer -1.300 0.000

Gene RIF (7)

PMID Text
26394714 PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy.
26364997 The mutated PIGN caused a significant decrease of the overall glycosylphoshatidylinositol-anchored proteins and CD24 expression which is sufficient to cause severe phenotypic expression.
24253414 Findings confirm that developmental delay, hypotonia, and epilepsy combined with congenital anomalies are common phenotypes of PIGN mutations and add progressive cerebellar atrophy to this clinical spectrum.
22876578 PIGN encodes phosphatidylinositol-glycan biosynthesis class N protein.
21493957 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19690890 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRA      1 - 70
PFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPD     71 - 140
ILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHL    141 - 210
LGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETL    211 - 280
TPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLN    281 - 350
NTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL    351 - 420
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVA    421 - 490
IGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVL    491 - 560
SFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLL    561 - 630
SLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPL    631 - 700
LSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYN    701 - 770
TDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV    771 - 840
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNG    841 - 910
LAQLLTTKKLRLCGKPKSHFM                                                     911 - 931
//

Text Mined References (18)

PMID Year Title
26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
23446422 2013 Replication stress links structural and numerical cancer chromosomal instability.
22876578 2012 Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.
21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
19690890 2009 Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
More...