Hs05641091_cn

• Gene Symbol: MTMR1
• Assay Reference Genome Location: Chr.X:150694475 on build GRCh38
• Cytoband: Xq28

Target Gene Details

• Entrez Gene ID: 8776
• Gene Name: myotubularin related protein 1
• Gene Aliases: -
• Location: Chr.X:150692997-150765103 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTMR1	NM_001306144.1			NP_001293073.1
	NM_001306145.1			NP_001293074.1
	NM_003828.3			NP_003819.1
	XM_005274765.3			XP_005274822.1
	XM_005274766.3			XP_005274823.1
	XM_005274767.3			XP_005274824.1
	XM_006724855.3			XP_006724918.1
	XM_011531209.2			XP_011529511.1
	XM_011531210.2			XP_011529512.1
	XM_017029920.1			XP_016885409.1
	XM_017029922.1			XP_016885411.1
	XM_017029924.1			XP_016885413.1
	AF057354.1			AAD40368.1
	AJ224979.1			CAA12271.1
	AK226109.1
	AK295738.1
	BC032947.1			AAH32947.1
	DR000536.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508811	Chr.X:150663751 - 150718401 on Build GRCh38	Insertion	MTM1 MTMR1
esv3577528	Chr.X:150636374 - 150760583 on Build GRCh38	Gain	MTM1 MTMR1

More Information

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

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

phosphatidylinositol biosynthetic process
peptidyl-tyrosine dephosphorylation
phosphatidylinositol dephosphorylation

Function(s)

phosphatidylinositol-3-phosphatase activity
protein tyrosine phosphatase activity
protein homodimerization activity
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity