Hs01968151_cn

• Gene Symbol: DNM1L
• Assay Reference Genome Location: Chr.12:32731375 on build GRCh38
• Cytoband: 12p11.21

Target Gene Details

• Entrez Gene ID: 10059
• Gene Name: dynamin 1 like
• Gene Aliases: DLP1, DRP1, DVLP, DYMPLE, EMPF, HDYNIV
• Location: Chr.12:32679200-32745650 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DNM1L	NM_001278463.1			NP_001265392.1
	NM_001278464.1			NP_001265393.1
	NM_001278465.1			NP_001265394.1
	NM_001278466.1			NP_001265395.1
	NM_005690.4			NP_005681.2
	NM_012062.4			NP_036192.2
	NM_012063.3			NP_036193.2
	XM_005253282.4			XP_005253339.1
	XM_011520543.2			XP_011518845.1
	XM_011520544.2			XP_011518846.1
	XM_017018663.1			XP_016874152.1
	XM_017018664.1			XP_016874153.1
	XM_017018665.1			XP_016874154.1
	AB006965.1			BAA22193.1
	AB209070.1			BAD92307.1
	AF000430.1			AAC23724.1
	AF061795.1			AAC35283.1
	AF151685.1			AAD39541.1
	AK291094.1
	AK293290.1
	AK294533.1
	AK299926.1
	AK302565.1
	AK311606.1
	BC024590.1			AAH24590.1
	BC107763.1			AAI07764.1

Target Gene Details

• Entrez Gene ID: 51067
• Gene Name: tyrosyl-tRNA synthetase 2
• Gene Aliases: CGI-04, MLASA2, MT-TYRRS, TYRRS
• Location: Chr.12:32725247-32755961 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
YARS2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1429n100	Chr.12:32718926 - 32775899 on Build GRCh38	Gain	YARS2 DNM1L

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

mitochondrial fission
release of cytochrome c from mitochondria
dynamin polymerization involved in mitochondrial fission
endocytosis
cellular component disassembly involved in execution phase of apoptosis
regulation of mitochondrion organization
peroxisome fission
regulation of protein oligomerization
positive regulation of apoptotic process
positive regulation of GTPase activity
mitochondrial fragmentation involved in apoptotic process
positive regulation of protein secretion
protein oligomerization
protein homotetramerization
heart contraction
membrane fusion
necroptotic process
mitochondrion morphogenesis
protein localization to mitochondrion
positive regulation of mitochondrial fission
mitochondrial membrane fission
positive regulation of release of cytochrome c from mitochondria
regulation of peroxisome organization
regulation of mitophagy
regulation of ATP metabolic process
positive regulation of intrinsic apoptotic signaling pathway

Function(s)

GTPase activity
GTPase activator activity
protein binding
GTP binding
lipid binding
Rab GTPase binding
GTP-dependent protein binding
ubiquitin protein ligase binding
protein homodimerization activity