Hs00107862_cn

• Gene Symbol: OPHN1
• Assay Reference Genome Location: Chr.X:68044887 on build GRCh38
• Cytoband: Xq12

Target Gene Details

• Entrez Gene ID: 4983
• Gene Name: oligophrenin 1
• Gene Aliases: ARHGAP41, MRX60, OPN1
• Location: Chr.X:68042344-68433841 on Build GRCh38
• Assay Gene Location: Within Exon 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OPHN1	NM_002547.2	25	4988	NP_002538.1
	XM_005262270.1	24	4734	XP_005262327.1
	XM_011530961.1	25	4909	XP_011529263.1
	AJ001189.1	25	5332	CAA04579.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758871	Chr.X:67279827 - 68099252 on Build GRCh38	Gain	AR OPHN1
nsv818030	Chr.X:67496364 - 68089458 on Build GRCh38	Gain	AR OPHN1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

substrate-dependent cell migration, cell extension
signal transduction
nervous system development
axon guidance
actin cytoskeleton organization
regulation of endocytosis
positive regulation of GTPase activity
synaptic vesicle endocytosis
regulation of small GTPase mediated signal transduction
regulation of synaptic transmission, glutamatergic
negative regulation of proteasomal protein catabolic process

Function(s)

actin binding
GTPase activator activity
phospholipid binding
ionotropic glutamate receptor binding