Hs04301070_cn

• Gene Symbol: AK6
• Assay Reference Genome Location: Chr.5:69368094 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: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AK6	NM_001015891.1			NP_001015891.1
	NM_016283.4			NP_057367.1
	AF110777.1			AAF14860.1
	AF151895.1			AAD34132.1
	AJ878880.1			CAI48030.1
	AJ878881.1			CAI48031.1
	BC007426.2			AAH07426.1
	BX117839.1

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: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TAF9	NM_001015892.1			NP_001015892.1
	NM_003187.4			NP_003178.1
	AI879232.1
	BC003400.1			AAH03400.1
	BC007349.2			AAH07349.1
	BC033320.1	1	84	AAH33320.1
	BG490028.1
	BG720149.1
	CX784292.1
	U21858.1			AAC50153.1

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

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)

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
cellular response to DNA damage stimulus
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
regulation of signal transduction by p53 class mediator
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

Function(s)

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