Hs01072670_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63495860 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 1917
• Gene Name: eukaryotic translation elongation factor 1 alpha 2
• Gene Aliases: EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL
• Location: Chr.20:63488012-63499315 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EEF1A2	NM_001958.3			NP_001949.1
	AB209064.1			BAD92301.1
	AB451389.1
	AK307536.1
	BC000432.2			AAH00432.1
	BC110409.1
	BM476361.1
	L10340.1			AAA91835.1
	X70940.1			CAA50280.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	MIR4326 PPDPF CHRNA4 MIR3196 MIR124-3 LOC107985425 FLJ16779 FNDC11 NKAIN4 ARFGAP1 EEF1A2 HELZ2 LOC100130587 LOC102723788 PTK6 BIRC7 YTHDF1 COL20A1 KCNQ2 LOC100130152 SRMS
dgv7666n54	Chr.20:63460989 - 63528151 on Build GRCh38	Loss	PPDPF KCNQ2 EEF1A2
nsv3448	Chr.20:63488613 - 63520639 on Build GRCh38	Insertion	EEF1A2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	MIR4326 OGFR MIR3196 FNDC11 HAR1B NKAIN4 HELZ2 OGFR-AS1 PTK6 GID8 LINC00029 YTHDF1 COL20A1 SRMS HAR1A LOC63930 BHLHE23 PPDPF LOC107985428 GMEB2 CHRNA4 MIR124-3 LOC107985425 FLJ16779 LINC00659 SLC17A9 ARFGAP1 MRGBP EEF1A2 LOC100130587 LOC102723788 BIRC7 COL9A3 KCNQ2 LOC100130152 DIDO1 DPH3P1 TCFL5 LINC01056
nsv586568	Chr.20:63486715 - 63502196 on Build GRCh38	Loss	EEF1A2
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	PTK6 PPDPF KCNQ2 SRMS FNDC11 EEF1A2
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	PTK6 PPDPF GMEB2 KCNQ2 SRMS FNDC11 EEF1A2 HELZ2
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	ZGPAT PPDPF GMEB2 TNFRSF6B FNDC11 EEF1A2 HELZ2 RTEL1 LOC100505771 PTK6 SLC2A4RG KCNQ2 STMN3 SRMS RTEL1-TNFRSF6B LIME1 ZBTB46 ARFRP1

More Information

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

Panther Classification:

Molecular Function -

translation factor

Gene Ontology Categories:

Process(es)

translational elongation
response to inorganic substance
positive regulation of apoptotic process
response to electrical stimulus
positive regulation of lipid kinase activity
regulation of chaperone-mediated autophagy

Function(s)

translation elongation factor activity
GTPase activity
protein binding
GTP binding
translation factor activity, RNA binding
protein kinase binding