Hs05248085_cn

• Gene Symbol: ATM
• Assay Reference Genome Location: Chr.11:108317909 on build GRCh38
• Cytoband: 11q22.3

Target Gene Details

• Entrez Gene ID: 472
• Gene Name: ATM serine/threonine kinase
• Gene Aliases: AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
• Location: Chr.11:108222484-108369102 on Build GRCh38
• Assay Gene Location: Within Intron 48

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATM	NM_000051.3			NP_000042.3
	XM_005271561.4			XP_005271618.2
	XM_005271562.4			XP_005271619.2
	XM_006718843.3			XP_006718906.1
	XM_006718845.1			XP_006718908.1
	XM_011542840.2			XP_011541142.1
	XM_011542842.2			XP_011541144.1
	XM_011542843.2			XP_011541145.1
	XM_011542844.2			XP_011541146.1
	XM_011542845.1			XP_011541147.1
	XM_017017789.1			XP_016873278.1
	XM_017017790.1			XP_016873279.1
	XM_017017791.1			XP_016873280.1
	AK299843.1
	BC137169.1
	U26455.1			AAA86520.1
	U33841.1			AAC50289.1

Target Gene Details

• Entrez Gene ID: 160140
• Gene Name: chromosome 11 open reading frame 65
• Gene Aliases: -
• Location: Chr.11:108307344-108469832 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C11orf65	XM_017017249.1			XP_016872738.1
	XM_017017250.1			XP_016872739.1
	AK303096.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832262	Chr.11:108253104 - 108438623 on Build GRCh38	Loss	ATM C11orf65
nsv832263	Chr.11:108312645 - 108513664 on Build GRCh38	Gain	ATM C11orf65 EXPH5 KDELC2
esv3892100	Chr.11:108287407 - 108420290 on Build GRCh38	Loss	ATM C11orf65

More Information

Additional Information:

For this assay, SNP(s) [rs117338998] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase, dehydrogenase

Gene Ontology Categories:

Process(es)

double-strand break repair via homologous recombination
DNA double-strand break processing
DNA synthesis involved in DNA repair
strand displacement
response to hypoxia
somitogenesis
pre-B cell allelic exclusion
DNA replication
DNA repair
double-strand break repair via nonhomologous end joining
protein phosphorylation
cellular response to DNA damage stimulus
DNA damage induced protein phosphorylation
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
telomere maintenance via telomerase
cell cycle arrest
mitotic spindle assembly checkpoint
reciprocal meiotic recombination
signal transduction
brain development
heart development
determination of adult lifespan
intrinsic apoptotic signaling pathway in response to DNA damage
response to ionizing radiation
regulation of autophagy
histone phosphorylation
peptidyl-serine phosphorylation
negative regulation of B cell proliferation
positive regulation of telomere maintenance via telomerase
positive regulation of histone phosphorylation
V(D)J recombination
phosphatidylinositol-3-phosphate biosynthetic process
peptidyl-serine autophosphorylation
lipoprotein catabolic process
regulation of apoptotic process
positive regulation of apoptotic process
positive regulation of DNA damage response, signal transduction by p53 class mediator
positive regulation of neuron apoptotic process
meiotic telomere clustering
protein autophosphorylation
oocyte development
neuron apoptotic process
regulation of telomerase activity
histone mRNA catabolic process
cellular response to gamma radiation
cellular response to X-ray
cellular response to nitrosative stress
signal transduction involved in mitotic G2 DNA damage checkpoint
replicative senescence
establishment of RNA localization to telomere
establishment of macromolecular complex localization to telomere
regulation of cellular response to heat
regulation of signal transduction by p53 class mediator
negative regulation of TORC1 signaling
negative regulation of telomere capping
positive regulation of telomere maintenance via telomere lengthening
positive regulation of telomerase catalytic core complex assembly

Function(s)

DNA binding
protein serine/threonine kinase activity
DNA-dependent protein kinase activity
protein binding
ATP binding
1-phosphatidylinositol-3-kinase activity
protein complex binding
protein dimerization activity
protein N-terminus binding