Hs03008113_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63493282 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 4 - Exon 5

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

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