Hs01234089_cn

• Gene Symbol: AHRR
• Assay Reference Genome Location: Chr.5:314747 on build GRCh38
• Cytoband: 5p15.33

Target Gene Details

• Entrez Gene ID: 57491
• Gene Name: aryl-hydrocarbon receptor repressor
• Gene Aliases: AHH, AHHR, bHLHe77
• Location: Chr.5:304176-438291 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AHRR	NM_001242412.1			NP_001229341.1
	NM_020731.4			NP_065782.2
	AB033060.1
	BC151852.1
	BC152406.1
	EU293605.1

Target Gene Details

• Entrez Gene ID: 10016
• Gene Name: programmed cell death 6
• Gene Aliases: ALG-2, ALG2, PEF1B
• Location: Chr.5:271621-314974 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDCD6	NM_001267556.1	6	902	NP_001254485.1
	NM_001267557.1	4	704	NP_001254486.1
	NM_001267558.1	7	823	NP_001254487.1
	NM_001267559.1	4	639	NP_001254488.1
	NM_013232.3	6	908	NP_037364.1
	AF035606.1	6	934	AAC27697.1
	AK001917.1	6	853
	AK124302.1	2	2163
	AK223366.1	6	908	BAD97086.1
	BC012384.1	6	876	AAH12384.1
	BC110291.1	6	866	AAI10292.1
	BG390506.1
	BI553617.1
	CR983268.1
	U58773.1	6	839	AAF14336.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759315	Chr.5:17263 - 595840 on Build GRCh38	Loss	LOC100288152 SDHA HRAT5 MIR4456 AHRR PDCD6 SLC9A3 CCDC127 LRRC14B PP7080 EXOC3-AS1 PLEKHG4B EXOC3
esv3894107	Chr.5:81322 - 801057 on Build GRCh38	Gain	LOC101929895 LOC100288152 SDHA HRAT5 MIR4456 TPPP AHRR ZDHHC11B PDCD6 SLC9A3 CCDC127 ZDHHC11 LRRC14B PP7080 LOC100996325 EXOC3-AS1 PLEKHG4B CEP72 EXOC3
nsv428458	Chr.5:93781 - 338972 on Build GRCh38	Loss	SDHA PDCD6 HRAT5 CCDC127 AHRR LRRC14B PLEKHG4B
esv2752083	Chr.5:28951 - 346521 on Build GRCh38	Gain	SDHA PDCD6 HRAT5 CCDC127 AHRR LRRC14B PLEKHG4B
nsv1148167	Chr.5:313785 - 314970 on Build GRCh38	Deletion	PDCD6 AHRR
nsv1030767	Chr.5:154674 - 457840 on Build GRCh38	Gain	SDHA PDCD6 HRAT5 CCDC127 AHRR LRRC14B EXOC3-AS1 PLEKHG4B EXOC3
nsv461887	Chr.5:299506 - 438449 on Build GRCh38	Gain	PDCD6 AHRR
nsv509041	Chr.5:314395 - 438288 on Build GRCh38	Insertion	PDCD6 AHRR

More Information

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

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor, actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
response to xenobiotic stimulus
positive regulation of transcription from RNA polymerase II promoter
angiogenesis
positive regulation of endothelial cell proliferation
proteolysis
intracellular protein transport
activation of cysteine-type endopeptidase activity involved in apoptotic process
positive regulation of endothelial cell migration
negative regulation of vascular endothelial growth factor receptor signaling pathway
negative regulation of TOR signaling
cellular response to heat
vascular endothelial growth factor receptor-2 signaling pathway
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
positive regulation of angiogenesis
response to calcium ion
negative regulation of protein kinase B signaling
apoptotic signaling pathway

Function(s)

transcriptional repressor activity, RNA polymerase II transcription factor binding
DNA binding
protein dimerization activity
calcium-dependent cysteine-type endopeptidase activity
calcium ion binding
protein binding
identical protein binding
protein homodimerization activity
protein anchor
calcium-dependent protein binding
binding, bridging