Hs03361819_cn

• Gene Symbol: GLMN
• Assay Reference Genome Location: Chr.1:92275382 on build GRCh38
• Cytoband: 1p22.1

Target Gene Details

• Entrez Gene ID: 11146
• Gene Name: glomulin, FKBP associated protein
• Gene Aliases: FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM
• Location: Chr.1:92245786-92441936 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLMN	NM_001319683.1			NP_001306612.1
	NM_053274.2			NP_444504.1
	NR_135089.1
	XM_005270401.3			XP_005270458.1
	XM_006710309.2			XP_006710372.1
	XM_011540546.2			XP_011538848.1
	XM_017000137.1			XP_016855626.1
	XM_017000138.1			XP_016855627.1
	XM_017000139.1			XP_016855628.1
	XM_017000140.1			XP_016855629.1
	XM_017000141.1			XP_016855630.1
	XM_017000142.1			XP_016855631.1
	XM_017000143.1			XP_016855632.1
	XM_017000144.1			XP_016855633.1
	AJ302735.1			CAC82938.1
	AJ347709.1			CAC69882.1
	AK295971.1
	BC001257.1			AAH01257.1
	U73704.1			AAC50908.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv830592	Chr.1:92203725 - 92340072 on Build GRCh38	Gain	RPAP2 GLMN C1orf146
esv2714684	Chr.1:91095800 - 93049130 on Build GRCh38	Deletion	RPAP2 BRDT SETSIP SNORD21 RPL5 HFM1 HSP90B3P SNORA66 EPHX4 C1orf146 CDC7 FAM69A BTBD8 KIAA1107 GLMN TGFBR3 GFI1 EVI5

More Information

Additional Information:

For this assay, SNP(s) [rs66758257] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

vasculogenesis
neural tube closure
negative regulation of protein ubiquitination
regulation of proteasomal ubiquitin-dependent protein catabolic process
regulation of gene expression, epigenetic
negative regulation of T cell proliferation
positive regulation of phosphorylation
muscle cell differentiation
positive regulation of interleukin-2 biosynthetic process
positive regulation of cytokine secretion

Function(s)

hepatocyte growth factor receptor binding
protein binding
ubiquitin protein ligase binding
ubiquitin-protein transferase inhibitor activity