Hs01668624_cn

• Gene Symbol: CAMK1
• Assay Reference Genome Location: Chr.3:9759720 on build GRCh38
• Cytoband: 3p25.3

Target Gene Details

• Entrez Gene ID: 8536
• Gene Name: calcium/calmodulin dependent protein kinase I
• Gene Aliases: CAMKI
• Location: Chr.3:9757345-9769987 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CAMK1	NM_003656.4			NP_003647.1
	XM_005265516.1			XP_005265573.1
	XM_005265517.2			XP_005265574.1
	XM_017007354.1			XP_016862843.1
	AB209395.1	1	2605	BAD92632.1
	AB451277.1
	AB451407.1
	AK314917.1
	BC106754.2			AAI06755.1
	BC106755.2			AAI06756.1
	L41816.1			AAA99458.1

Target Gene Details

• Entrez Gene ID: 4968
• Gene Name: 8-oxoguanine DNA glycosylase
• Gene Aliases: HMMH, HOGG1, MUTM, OGH1
• Location: Chr.3:9749944-9788246 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OGG1	NM_016821.2			NP_058214.1
	NM_016826.2			NP_058434.1
	NM_016827.2			NP_058436.1
	NM_016828.2			NP_058437.1
	NM_016829.2			NP_058438.1
	XM_011533760.1			XP_011532062.1
	XM_017006494.1			XP_016861983.1
	XM_017006496.1			XP_016861985.1
	XM_017006497.1			XP_016861986.1
	XM_017006498.1			XP_016861987.1
	XM_017006499.1			XP_016861988.1
	AB019528.1			BAA76635.1
	AB019529.1			BAA76636.1
	AB019530.1			BAA76637.1
	AB019531.1			BAA76638.1
	U88620.1			AAB68615.1
	Y13277.1			CAA73726.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1010768	Chr.3:9502870 - 9873902 on Build GRCh38	Gain	RPUSD3 ARPC4 OGG1 TTLL3 CIDEC MTMR14 CAMK1 ARPC4-TTLL3 BRPF1 LOC107986062 LHFPL4 TADA3 CPNE9

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase, DNA metabolism protein

Gene Ontology Categories:

Process(es)

protein phosphorylation
nucleocytoplasmic transport
cell cycle
signal transduction
positive regulation of neuron projection development
negative regulation of protein binding
regulation of protein localization
positive regulation of peptidyl-serine phosphorylation
regulation of protein binding
positive regulation of transcription from RNA polymerase II promoter
positive regulation of protein export from nucleus
regulation of muscle cell differentiation
positive regulation of muscle cell differentiation
positive regulation of synapse structural plasticity
positive regulation of syncytium formation by plasma membrane fusion
positive regulation of dendritic spine development
positive regulation of protein serine/threonine kinase activity
positive regulation of protein acetylation
regulation of histone H3-K9 acetylation
acute inflammatory response
base-excision repair
regulation of transcription, DNA-templated
cellular response to DNA damage stimulus
response to oxidative stress
aging
response to radiation
response to light stimulus
response to estradiol
regulation of protein import into nucleus, translocation
nucleotide-excision repair, DNA incision
response to drug
negative regulation of apoptotic process
depurination
depyrimidination
response to ethanol
response to folic acid
cellular response to cadmium ion
negative regulation of double-strand break repair via single-strand annealing

Function(s)

calmodulin-dependent protein kinase activity
protein binding
calmodulin binding
ATP binding
damaged DNA binding
endonuclease activity
microtubule binding
oxidized purine nucleobase lesion DNA N-glycosylase activity
oxidized purine DNA binding
8-oxo-7,8-dihydroguanine DNA N-glycosylase activity