Hs01540058_cn

• Gene Symbol: AK6
• Assay Reference Genome Location: Chr.5:69369661 on build GRCh38
• Cytoband: 5q13.2

Target Gene Details

• Entrez Gene ID: 102157402
• Gene Name: adenylate kinase 6
• Gene Aliases: AD-004, CGI-137, CINAP, CIP, hCINAP
• Location: Chr.5:69351726-69370013 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AK6	NM_001015891.1			NP_001015891.1
	AF110777.1			AAF14860.1
	BX117839.1

Target Gene Details

• Entrez Gene ID: 5884
• Gene Name: RAD17 checkpoint clamp loader component
• Gene Aliases: CCYC, HRAD17, R24L, RAD17SP, RAD24
• Location: Chr.5:69369297-69414801 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAD17	NM_133343.1			NP_579921.1
	XM_017009681.1			XP_016865170.1
	AL122068.1			CAB59244.1

Target Gene Details

• Entrez Gene ID: 6880
• Gene Name: TATA-box binding protein associated factor 9
• Gene Aliases: MGC:5067, STAF31/32, TAF2G, TAFII-31, TAFII-32, TAFII31, TAFII32, TAFIID32
• Location: Chr.5:69364743-69370013 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TAF9	NM_001015892.1			NP_001015892.1
	BG490028.1
	BG720149.1
	CX784292.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5694n100	Chr.5:69081291 - 69374274 on Build GRCh38	Gain	CCNB1 AK6 RAD17 CCDC125 TAF9 CENPH SLC30A5 CDK7 MRPS36
nsv821643	Chr.5:69272838 - 71076658 on Build GRCh38	Loss	AK6 LOC107986351 GUSBP3 LOC101929599 SMA4 LOC728526 SERF1A LOC101928924 GTF2H2C SMN2 SERF1B RAD17 CCDC125 SMN1 NAIP LOC441081 LOC653080 GTF2H2 OCLN GTF2H2B LOC107986354 LOC728488 SMA5 MARVELD2 LOC647859 TAF9 CDK7
nsv428117	Chr.5:69347454 - 71500057 on Build GRCh38	Gain+Loss	AK6 PMCHL2 LOC107986351 GUSBP3 LOC101929599 SMA4 LOC728526 LOC107986353 SERF1A LOC101928924 GTF2H2C SMN2 GUSBP9 BDP1 SERF1B RAD17 LOC102724392 SMN1 NAIP LOC441081 LOC653080 GTF2H2 OCLN GTF2H2B LOC107986354 LOC728488 SMA5 MARVELD2 LOC647859 LOC107986352 TAF9

More Information

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

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

DNA replication checkpoint
DNA damage checkpoint
DNA replication
DNA repair
cellular response to DNA damage stimulus
mitotic cell cycle checkpoint
negative regulation of DNA replication
regulation of phosphorylation
regulation of signal transduction by p53 class mediator
box C/D snoRNP assembly
transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
transcription elongation from RNA polymerase II promoter
positive regulation of cell growth
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
snRNA transcription from RNA polymerase II promoter
negative regulation of apoptotic process
histone H3 acetylation
positive regulation of transcription from RNA polymerase II promoter
protein stabilization
positive regulation of response to cytokine stimulus
response to interleukin-1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

Function(s)

DNA clamp loader activity
protein binding
ATP binding
p53 binding
DNA binding
transcription coactivator activity
histone acetyltransferase activity
activating transcription factor binding
transcription regulatory region DNA binding
protein heterodimerization activity
ATPase binding
C2H2 zinc finger domain binding