Hs06475560_cn

• Gene Symbol: LOC100192426
• Assay Reference Genome Location: Chr.18:8365010 on build GRCh38
• Cytoband: 18p11.23

Target Gene Details

• Entrez Gene ID: 100192426
• Gene Name: uncharacterized LOC100192426
• Gene Aliases: -
• Location: Chr.18:8360820-8367034 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100192426	NR_024419.1
	AI184987.1
	BX115569.1

Target Gene Details

• Entrez Gene ID: 5797
• Gene Name: protein tyrosine phosphatase, receptor type M
• Gene Aliases: PTPRL1, R-PTP-MU, RPTPM, RPTPU, hR-PTPu
• Location: Chr.18:7567316-8406861 on Build GRCh38
• Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTPRM	NM_001105244.1			NP_001098714.1
	NM_002845.3			NP_002836.3
	XM_011525708.2			XP_011524010.1
	XM_011525710.2			XP_011524012.1
	XM_011525712.2			XP_011524014.1
	XM_011525713.2			XP_011524015.1
	XM_011525715.2			XP_011524017.1
	XM_011525716.2			XP_011524018.1
	XM_011525717.2			XP_011524019.1
	XM_011525722.2			XP_011524024.1
	XM_017025894.1			XP_016881383.1
	XM_017025895.1			XP_016881384.1
	XM_017025896.1			XP_016881385.1
	XM_017025897.1			XP_016881386.1
	XM_017025898.1			XP_016881387.1
	XM_017025899.1			XP_016881388.1
	XM_017025900.1			XP_016881389.1
	XM_017025901.1			XP_016881390.1
	XM_017025902.1			XP_016881391.1
	XM_017025903.1			XP_016881392.1
	XM_017025904.1			XP_016881393.1
	XM_017025905.1			XP_016881394.1
	XM_017025906.1			XP_016881395.1
	XM_017025907.1			XP_016881396.1
	XM_017025908.1			XP_016881397.1
	XM_017025909.1			XP_016881398.1
	AK294492.1
	AK303652.1
	BC040543.1			AAH40543.1
	BC051651.1			AAH51651.1
	BC151842.1
	X58288.1			CAA41226.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058445	Chr.18:8270683 - 8421251 on Build GRCh38	Loss	LOC100192426 PTPRM
nsv576426	Chr.18:8110807 - 8645909 on Build GRCh38	Gain	LOC100192426 PTPRM RAB12
nsv526300	Chr.18:6980524 - 8391831 on Build GRCh38	Loss	LOC100192426 PTPRM LAMA1 LRRC30

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix glycoprotein, protein phosphatase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of endothelial cell proliferation
protein dephosphorylation
homophilic cell adhesion via plasma membrane adhesion molecules
signal transduction
negative regulation of endothelial cell migration
retina layer formation
negative regulation of angiogenesis
neuron projection development
retinal ganglion cell axon guidance
peptidyl-tyrosine dephosphorylation
response to drug
positive regulation of vasodilation

Function(s)

protein tyrosine phosphatase activity
transmembrane receptor protein tyrosine phosphatase activity
protein binding
identical protein binding
cadherin binding