Hs04034563_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63488401 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 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EEF1A2	NM_001958.3			NP_001949.1
	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	SRMS COL20A1 PPDPF BIRC7 CHRNA4 FNDC11 PTK6 LOC102723788 FLJ16779 ARFGAP1 YTHDF1 KCNQ2 NKAIN4 LOC100130152 MIR4326 MIR124-3 HELZ2 MIR3196 LOC100130587 LOC107985425 EEF1A2
dgv7666n54	Chr.20:63460989 - 63528151 on Build GRCh38	Loss	PPDPF KCNQ2 EEF1A2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	LOC63930 SRMS LOC107985428 COL20A1 PPDPF MRGBP OGFR-AS1 CHRNA4 FNDC11 PTK6 GID8 ARFGAP1 LINC00029 NKAIN4 MIR4326 MIR124-3 HELZ2 DPH3P1 SLC17A9 LINC01056 EEF1A2 COL9A3 TCFL5 BIRC7 DIDO1 LOC102723788 BHLHE23 FLJ16779 LINC00659 YTHDF1 KCNQ2 HAR1A LOC100130152 GMEB2 OGFR MIR3196 LOC100130587 HAR1B LOC107985425
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	SRMS PPDPF FNDC11 PTK6 KCNQ2 EEF1A2
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	SRMS ZBTB46 PPDPF LIME1 LOC100505771 FNDC11 RTEL1-TNFRSF6B PTK6 STMN3 GMEB2 HELZ2 RTEL1 TNFRSF6B ARFRP1 SLC2A4RG EEF1A2 ZGPAT
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	SRMS GMEB2 PPDPF HELZ2 FNDC11 PTK6 KCNQ2 EEF1A2
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	SRMS ZBTB46 PPDPF LIME1 LOC100505771 FNDC11 RTEL1-TNFRSF6B PTK6 STMN3 KCNQ2 GMEB2 HELZ2 RTEL1 TNFRSF6B ARFRP1 SLC2A4RG EEF1A2 ZGPAT

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