Hs02529175_cn

• Gene Symbol: EEF1A2
• Assay Reference Genome Location: Chr.20:63490531 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 Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EEF1A2	NM_001958.3	6	1306	NP_001949.1
	AB209064.1	4	3546	BAD92301.1
	AB451389.1	5	977
	AK307536.1	6	1074
	BC000432.2	5	1045	AAH00432.1
	BC110409.1	6	1275
	L10340.1	5	894	AAA91835.1
	X70940.1	5	1060	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	FLJ16779 LOC100130152 COL20A1 MIR124-3 EEF1A2 BIRC7 FNDC11 ARFGAP1 CHRNA4 HELZ2 KCNQ2 NKAIN4 LOC102723788 PPDPF LOC100130587 LOC107985425 MIR3196 MIR4326 YTHDF1 SRMS PTK6
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 BIRC7 FNDC11 GID8 DPH3P1 MRGBP ARFGAP1 CHRNA4 LINC00029 NKAIN4 LINC00659 LOC102723788 LOC100130587 BHLHE23 LOC107985425 OGFR-AS1 SLC17A9 COL9A3 MIR4326 FLJ16779 LOC100130152 COL20A1 LINC01056 MIR124-3 EEF1A2 TCFL5 DIDO1 LOC107985428 HAR1B HAR1A HELZ2 GMEB2 KCNQ2 LOC63930 PPDPF MIR3196 YTHDF1 SRMS PTK6
nsv586568	Chr.20:63486715 - 63502196 on Build GRCh38	Loss	EEF1A2
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	KCNQ2 EEF1A2 PPDPF FNDC11 SRMS PTK6
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	HELZ2 GMEB2 KCNQ2 EEF1A2 PPDPF FNDC11 SRMS PTK6
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	RTEL1-TNFRSF6B SLC2A4RG EEF1A2 TNFRSF6B FNDC11 RTEL1 STMN3 LIME1 HELZ2 GMEB2 ZBTB46 KCNQ2 LOC100505771 ZGPAT PPDPF ARFRP1 SRMS PTK6

More Information

• Set Membership: Intragenic, 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