Hs04092236_cn

• Gene Symbol: ANKRD54
• Assay Reference Genome Location: Chr.22:37848856 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 129138
• Gene Name: ankyrin repeat domain 54
• Gene Aliases: LIAR
• Location: Chr.22:37830854-37848994 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANKRD54	XM_011529878.2	1	139	XP_011528180.1
	XM_017028590.1	1	139	XP_016884079.1

Target Gene Details

• Entrez Gene ID: 51386
• Gene Name: eukaryotic translation initiation factor 3 subunit L
• Gene Aliases: EIF3EIP, EIF3S11, EIF3S6IP, HSPC021, HSPC025, MSTP005
• Location: Chr.22:37848774-37888782 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF3L	XM_006724260.3	1	83	XP_006724323.1
	AK056129.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758838	Chr.22:37607870 - 37869871 on Build GRCh38	Loss	NOL12 LOC102724378 GCAT MIR659 GALR3 H1F0 EIF3L ANKRD54 GGA1 PDXP LOC101927051 SH3BP1 TRIOBP MIR658 LGALS1
esv3893482	Chr.22:37832559 - 37927500 on Build GRCh38	Gain	ANKRD54 MIR659 MICALL1 MIR658 EIF3L

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

translation factor, translation initiation factor, translational protein

Gene Ontology Categories:

Process(es)

nucleocytoplasmic transport
positive regulation of erythrocyte differentiation
regulation of protein kinase activity
regulation of intracellular signal transduction
formation of translation preinitiation complex
translational initiation
regulation of translational initiation
viral translational termination-reinitiation

Function(s)

protein binding
protein kinase regulator activity
protein complex binding
translation initiation factor activity
poly(A) RNA binding