Hs01425011_cn

• Gene Symbol: ELP5
• Assay Reference Genome Location: Chr.17:7252819 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 23587
• Gene Name: elongator acetyltransferase complex subunit 5
• Gene Aliases: C17orf81, DERP6, HSPC002, MST071, MSTP071
• Location: Chr.17:7252053-7259940 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ELP5	NM_015362.4			NP_056177.3
	NM_203413.2			NP_981958.1
	NM_203414.2			NP_981959.1
	NM_203415.1			NP_981960.1
	XM_011523779.2			XP_011522081.1
	AB013910.1			BAB87800.1
	AF070658.1			AAD20964.1
	AF087868.1			AAM10496.1
	AF163262.1			AAQ13591.1
	AK225983.1
	AK289940.1
	BC002762.2			AAH02762.2
	BE743557.1
	BI916017.1
	BP230198.1
	BQ648358.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	PHF23 EIF5A TNK1 SLC16A11 TNFSF12-TNFSF13 C17orf74 CD68 LOC100996842 RNASEK-C17orf49 TMEM95 SLC35G6 MIR195 LOC107983988 BCL6B CTDNEP1 SLC2A4 SOX15 ACADVL FXR2 TNFSF13 ALOX12 ALOX12-AS1 ASGR2 FGF11 ALOX12P2 MPDU1 MIR497HG FBXO39 GABARAP ELP5 CLDN7 SNORA67 KCTD11 C17orf49 MIR497 EIF4A1 TMEM102 SAT2 YBX2 TNFSF12 NEURL4 ATP1B2 SPEM1 PLSCR3 TMEM256 POLR2A GPS2 SENP3 SLC16A13 CLEC10A MIR324 CHRNB1 TMEM256-PLSCR3 SHBG SENP3-EIF4A1 RNASEK SNORD10 DVL2 ZBTB4 NLGN2 DLG4 ASGR1 TEKT1 ACAP1 SNORA48
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	PHF23 MIR324 GABARAP DVL2 CTDNEP1 ELP5 CLDN7 DLG4 ACADVL
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	PHF23 EIF5A TMEM102 TNK1 C17orf74 YBX2 TMEM95 NEURL4 SPEM1 LOC107983988 PLSCR3 TMEM256 CTDNEP1 SLC2A4 GPS2 ACADVL MIR324 CHRNB1 FGF11 TMEM256-PLSCR3 GABARAP DVL2 NLGN2 ELP5 CLDN7 KCTD11 DLG4 ASGR1 ACAP1
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	PHF23 EIF5A MIR324 ASGR2 YBX2 NEURL4 GABARAP DVL2 CTDNEP1 ELP5 CLDN7 SLC2A4 DLG4 GPS2 ASGR1 ACADVL
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	PHF23 EIF5A TNK1 SLC16A11 TNFSF12-TNFSF13 C17orf74 CD68 LOC100996842 RNASEK-C17orf49 TMEM95 SLC35G6 MIR195 LOC107983988 BCL6B CTDNEP1 SLC2A4 SOX15 ACADVL FXR2 TNFSF13 ALOX12 ALOX12-AS1 ASGR2 FGF11 TP53 MPDU1 MIR497HG GABARAP ELP5 CLDN7 SNORA67 KCTD11 C17orf49 MIR497 EIF4A1 TMEM102 SAT2 YBX2 TNFSF12 NEURL4 ATP1B2 SPEM1 PLSCR3 TMEM256 POLR2A GPS2 SENP3 SLC16A13 CLEC10A MIR324 CHRNB1 TMEM256-PLSCR3 SHBG SENP3-EIF4A1 RNASEK SNORD10 DVL2 ZBTB4 NLGN2 WRAP53 DLG4 ASGR1 ACAP1 SNORA48
nsv1963	Chr.17:7244585 - 7333855 on Build GRCh38	Deletion	EIF5A CTDNEP1 ELP5 CLDN7 YBX2 SLC2A4 GPS2 NEURL4

More Information

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

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
positive regulation of cell migration

Function(s)

protein binding