Hs04046679_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63489318 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 6

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	COL20A1 PTK6 LOC100130587 FNDC11 LOC107985425 EEF1A2 PPDPF CHRNA4 MIR3196 FLJ16779 BIRC7 MIR124-3 SRMS MIR4326 HELZ2 KCNQ2 LOC100130152 LOC102723788 YTHDF1 ARFGAP1 NKAIN4
dgv7666n54	Chr.20:63460989 - 63528151 on Build GRCh38	Loss	EEF1A2 PPDPF KCNQ2
nsv3448	Chr.20:63488613 - 63520639 on Build GRCh38	Insertion	EEF1A2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	PTK6 LOC107985428 OGFR LOC100130587 GID8 TCFL5 EEF1A2 CHRNA4 OGFR-AS1 BHLHE23 MIR124-3 SRMS MIR4326 LINC00029 KCNQ2 LINC01056 LOC102723788 DIDO1 COL20A1 LINC00659 HAR1A FNDC11 LOC107985425 MRGBP PPDPF LOC63930 HAR1B SLC17A9 DPH3P1 MIR3196 FLJ16779 BIRC7 COL9A3 HELZ2 LOC100130152 GMEB2 YTHDF1 ARFGAP1 NKAIN4
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	PTK6 FNDC11 SRMS EEF1A2 PPDPF KCNQ2
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	ZGPAT PTK6 FNDC11 LOC100505771 STMN3 EEF1A2 PPDPF TNFRSF6B LIME1 ARFRP1 ZBTB46 RTEL1 SRMS RTEL1-TNFRSF6B HELZ2 GMEB2 SLC2A4RG
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	PTK6 FNDC11 SRMS EEF1A2 PPDPF HELZ2 KCNQ2 GMEB2
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	ZGPAT PTK6 FNDC11 LOC100505771 STMN3 EEF1A2 PPDPF TNFRSF6B LIME1 ARFRP1 ZBTB46 RTEL1 SRMS RTEL1-TNFRSF6B HELZ2 KCNQ2 GMEB2 SLC2A4RG

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