Hs04192950_cn

• Gene Symbol: GLMN
• Assay Reference Genome Location: Chr.1:92310436 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLMN	XM_011540546.2			XP_011538848.1

Target Gene Details

• Entrez Gene ID: 79871
• Gene Name: RNA polymerase II associated protein 2
• Gene Aliases: C1orf82, Rtr1
• Location: Chr.1:92298965-92388175 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPAP2	NM_024813.2			NP_079089.2
	XM_005271223.2			XP_005271280.1
	XM_011542167.2			XP_011540469.1
	XM_017002362.1			XP_016857851.1
	XM_017002363.1			XP_016857852.1
	XM_017002364.1			XP_016857853.1
	AK023212.1			BAB14465.1
	AK225054.1
	BC031070.1			AAH31070.1
	BC039014.1			AAH39014.1

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	GLMN C1orf146 RPAP2
esv2714684	Chr.1:91095800 - 93049130 on Build GRCh38	Deletion	C1orf146 FAM69A EPHX4 SETSIP RPAP2 BTBD8 KIAA1107 SNORD21 TGFBR3 GLMN GFI1 CDC7 BRDT HFM1 SNORA66 RPL5 EVI5 HSP90B3P

More Information

Additional Information:

For this assay, SNP(s) [rs147871470] 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
snRNA transcription
snRNA transcription from RNA polymerase II promoter
dephosphorylation of RNA polymerase II C-terminal domain

Function(s)

hepatocyte growth factor receptor binding
protein binding
ubiquitin protein ligase binding
ubiquitin-protein transferase inhibitor activity
protein serine/threonine phosphatase activity
CTD phosphatase activity
metal ion binding