Hs05004426_cn

• Gene Symbol: ANKRD61
• Assay Reference Genome Location: Chr.7:6035948 on build GRCh38
• Cytoband: 7p22.1

Target Gene Details

• Entrez Gene ID: 100310846
• Gene Name: ankyrin repeat domain 61
• Gene Aliases: -
• Location: Chr.7:6031376-6036552 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANKRD61	NM_001271700.1	3	819	NP_001258629.1

Target Gene Details

• Entrez Gene ID: 27102
• Gene Name: eukaryotic translation initiation factor 2 alpha kinase 1
• Gene Aliases: HCR, HRI
• Location: Chr.7:6022247-6059229 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF2AK1	NM_001134335.1			NP_001127807.1
	NM_014413.3			NP_055228.2
	AB037790.1
	AF100784.1			AAP97223.1
	AF147094.1			AAF66736.1
	AF183414.1			AAG09683.1
	AF255050.1			AAF70289.1
	AK075192.1			BAC11461.1
	AK290327.1
	AK295712.1
	AL136563.1			CAB66498.1
	AL834494.1			CAD39152.1
	BC006524.2			AAH06524.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1034916	Chr.7:5895149 - 6119339 on Build GRCh38	Gain	AIMP2 USP42 ANKRD61 PMS2 EIF2AK1 RSPH10B CCZ1
nsv436904	Chr.7:5035574 - 6713282 on Build GRCh38	Insertion	OCM RAC1 ZNF890P USP42 FAM220A MIR6874 RNF216-IT1 FSCN1 ZDHHC4 DAGLB LOC100129484 RNF216 LOC107986762 MIR589 CYTH3 ANKRD61 RBAKDN EIF2AK1 LOC100419773 ZNF12 ACTB KDELR2 ZNF853 RBAK-RBAKDN WIPI2 FBXL18 ZNF815P RSPH10B GRID2IP AIMP2 ZNF316 SLC29A4 PMS2 LOC221946 C7orf26 RBAK TNRC18 CCZ1
nsv605998	Chr.7:5995434 - 6062403 on Build GRCh38	Loss	AIMP2 ANKRD61 PMS2 EIF2AK1
nsv1018388	Chr.7:5999082 - 6091538 on Build GRCh38	Gain	AIMP2 USP42 ANKRD61 PMS2 EIF2AK1

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

acute inflammatory response
phagocytosis
response to stress
negative regulation of cell proliferation
response to external stimulus
regulation of translational initiation by eIF2 alpha phosphorylation
regulation of eIF2 alpha phosphorylation by heme
macrophage differentiation
negative regulation of translational initiation by iron
protoporphyrinogen IX metabolic process
protein autophosphorylation
negative regulation of hemoglobin biosynthetic process
iron ion homeostasis

Function(s)

eukaryotic translation initiation factor 2alpha kinase activity
ATP binding
heme binding
protein homodimerization activity