Hs02513627_cn

• Gene Symbol: DNM1L
• Assay Reference Genome Location: Chr.12:32733759 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: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DNM1L	NM_001278463.1	13	1655	NP_001265392.1
	NM_001278464.1	14	1694	NP_001265393.1
	NM_001278465.1	14	1694	NP_001265394.1
	NM_001278466.1	10	1251	NP_001265395.1
	NM_005690.4	13	1655	NP_005681.2
	NM_012062.4	13	1655	NP_036192.2
	NM_012063.3	13	1655	NP_036193.2
	XM_005253282.4	14	1666	XP_005253339.1
	XM_011520543.2	14	1666	XP_011518845.1
	XM_011520544.2	12	1372	XP_011518846.1
	XM_017018663.1	12	1372	XP_016874152.1
	XM_017018664.1	12	1372	XP_016874153.1
	XM_017018665.1	12	1372	XP_016874154.1
	AB006965.1	13	1526	BAA22193.1
	AB209070.1	14	1571	BAD92307.1
	AF000430.1	13	1563	AAC23724.1
	AF061795.1	13	1512	AAC35283.1
	AF151685.1	13	1512	AAD39541.1
	AK291094.1	13	1535
	AK294533.1	10	1131
	AK299926.1	14	1607
	AK302565.1	13	1655
	BC024590.1	13	1525	AAH24590.1
	BC107763.1	13	1539	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, Exonic, 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