Hs00121411_cn

• Gene Symbol: EIF2B1
• Assay Reference Genome Location: Chr.12:123633516 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 1967
• Gene Name: eukaryotic translation initiation factor 2B subunit alpha
• Gene Aliases: EIF2B, EIF2BA
• Location: Chr.12:123621023-123633776 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF2B1	NM_001414.3			NP_001405.1
	AK294815.1
	AL541292.3
	BC103763.1			AAI03764.1
	DA221985.1
	DA879094.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2759918	Chr.12:123625575 - 123711309 on Build GRCh38	Gain	GTF2H3 EIF2B1 TCTN2
dgv1566n100	Chr.12:123610211 - 123711309 on Build GRCh38	Gain	GTF2H3 DDX55 EIF2B1 TCTN2
nsv442292	Chr.12:123630500 - 123711307 on Build GRCh38	Gain	GTF2H3 EIF2B1 TCTN2
dgv309e214	Chr.12:123628443 - 123712471 on Build GRCh38	Gain	GTF2H3 EIF2B1 TCTN2 ATP6V0A2
nsv1042181	Chr.12:123552853 - 123668403 on Build GRCh38	Gain	GTF2H3 TMED2 LOC101927415 DDX55 EIF2B1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

translation initiation factor

Gene Ontology Categories:

Process(es)

translational initiation
regulation of translational initiation
response to heat
response to glucose
oligodendrocyte development
L-methionine biosynthetic process from methylthioadenosine
response to peptide hormone
positive regulation of GTPase activity
cellular response to stimulus

Function(s)

translation initiation factor activity
guanyl-nucleotide exchange factor activity
protein binding
S-methyl-5-thioribose-1-phosphate isomerase activity