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	PTK6 LOC102723788 CHRNA4 YTHDF1 MIR4326 FLJ16779 EEF1A2 BIRC7 LOC100130152 LOC107985425 HELZ2 KCNQ2 ARFGAP1 FNDC11 SRMS PPDPF MIR124-3 LOC100130587 NKAIN4 MIR3196 COL20A1
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	OGFR PTK6 GMEB2 COL9A3 YTHDF1 FLJ16779 OGFR-AS1 EEF1A2 LOC107985425 HELZ2 LINC00029 ARFGAP1 HAR1A SRMS DPH3P1 MIR124-3 MIR3196 LOC102723788 CHRNA4 DIDO1 MIR4326 MRGBP LOC107985428 BIRC7 LOC100130152 BHLHE23 KCNQ2 LINC00659 TCFL5 FNDC11 PPDPF LINC01056 LOC100130587 LOC63930 NKAIN4 GID8 SLC17A9 HAR1B COL20A1
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	KCNQ2 PTK6 FNDC11 SRMS EEF1A2 PPDPF
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	PTK6 GMEB2 ARFRP1 STMN3 SLC2A4RG LIME1 EEF1A2 RTEL1 HELZ2 RTEL1-TNFRSF6B LOC100505771 ZBTB46 FNDC11 SRMS PPDPF ZGPAT TNFRSF6B
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	KCNQ2 PTK6 GMEB2 FNDC11 SRMS EEF1A2 PPDPF HELZ2
nsv586569	Chr.20:63496168 - 63548764 on Build GRCh38	Loss	PTK6 SRMS EEF1A2 PPDPF
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	PTK6 GMEB2 ARFRP1 STMN3 SLC2A4RG LIME1 EEF1A2 RTEL1 HELZ2 RTEL1-TNFRSF6B LOC100505771 KCNQ2 ZBTB46 FNDC11 SRMS PPDPF ZGPAT TNFRSF6B

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