Hs04041748_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63496975 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: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EEF1A2	NM_001958.3			NP_001949.1
	AB209064.1	1	1774	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	MIR3196 MIR4326 HELZ2 LOC100130152 BIRC7 EEF1A2 FLJ16779 NKAIN4 PPDPF LOC100130587 LOC107985425 COL20A1 CHRNA4 FNDC11 ARFGAP1 KCNQ2 YTHDF1 PTK6 LOC102723788 MIR124-3 SRMS
dgv7666n54	Chr.20:63460989 - 63528151 on Build GRCh38	Loss	KCNQ2 EEF1A2 PPDPF
nsv3448	Chr.20:63488613 - 63520639 on Build GRCh38	Insertion	EEF1A2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	HELZ2 OGFR-AS1 FLJ16779 COL20A1 CHRNA4 DPH3P1 LOC107985428 FNDC11 ARFGAP1 PTK6 LOC102723788 SRMS HAR1A SLC17A9 MIR3196 MIR4326 LOC100130152 BIRC7 LOC63930 GID8 EEF1A2 NKAIN4 PPDPF TCFL5 LOC100130587 LOC107985425 LINC01056 GMEB2 MRGBP HAR1B DIDO1 COL9A3 KCNQ2 BHLHE23 OGFR LINC00029 YTHDF1 LINC00659 MIR124-3
nsv586568	Chr.20:63486715 - 63502196 on Build GRCh38	Loss	EEF1A2
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	FNDC11 KCNQ2 EEF1A2 PPDPF PTK6 SRMS
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	HELZ2 FNDC11 KCNQ2 EEF1A2 PPDPF PTK6 GMEB2 SRMS
nsv586569	Chr.20:63496168 - 63548764 on Build GRCh38	Loss	EEF1A2 PPDPF PTK6 SRMS
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	HELZ2 LOC100505771 SLC2A4RG ARFRP1 EEF1A2 PPDPF ZBTB46 GMEB2 STMN3 FNDC11 RTEL1-TNFRSF6B TNFRSF6B KCNQ2 PTK6 ZGPAT RTEL1 SRMS LIME1

More Information

• Set Membership: Intragenic, Intronic, 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