Hs04063078_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63494267 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 4

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

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