Hs03978842_cn

• Gene Symbol: DBIL5P
• Assay Reference Genome Location: Chr.17:752898 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 100131454
• Gene Name: diazepam binding inhibitor-like 5, pseudogene
• Gene Aliases: ELP2P
• Location: Chr.17:752333-755336 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBIL5P	NR_024120.2	1	566
	AF229804.1	1	239	AAF79122.1
	DA393494.1

Target Gene Details

• Entrez Gene ID: 50628
• Gene Name: gem nuclear organelle associated protein 4
• Gene Aliases: HC56, HCAP1, HHRF-1, p97
• Location: Chr.17:744421-752868 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GEMIN4	XM_005256670.4			XP_005256727.1
	XM_011523911.2			XP_011522213.1
	XM_017024709.1			XP_016880198.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5386n54	Chr.17:407766 - 816212 on Build GRCh38	Gain	VPS53 FAM57A NXN C17orf97 LOC105371430 DBIL5P GLOD4 GEMIN4 FAM101B MRM3
dgv3074n100	Chr.17:717681 - 865635 on Build GRCh38	Gain	FAM57A NXN DBIL5P GLOD4 GEMIN4 MRM3
nsv1057000	Chr.17:664913 - 866713 on Build GRCh38	Gain	VPS53 FAM57A NXN DBIL5P GLOD4 GEMIN4 MRM3
dgv5389n54	Chr.17:633174 - 937565 on Build GRCh38	Gain	LOC101927727 VPS53 FAM57A NXN DBIL5P GLOD4 GEMIN4 MRM3
nsv1064955	Chr.17:567977 - 797758 on Build GRCh38	Gain	VPS53 FAM57A DBIL5P GLOD4 GEMIN4 MRM3
esv2758673	Chr.17:718346 - 1158111 on Build GRCh38	Gain	LOC101927727 FAM57A NXN LOC100130876 ABR DBIL5P GLOD4 GEMIN4 TIMM22 MIR3183 MRM3
nsv469891	Chr.17:663703 - 837834 on Build GRCh38	Loss	VPS53 FAM57A NXN DBIL5P GLOD4 GEMIN4 MRM3
nsv1063272	Chr.17:707786 - 789280 on Build GRCh38	Gain	VPS53 FAM57A DBIL5P GLOD4 GEMIN4 MRM3
dgv5387n54	Chr.17:494867 - 994065 on Build GRCh38	Loss	LOC101927727 VPS53 FAM57A NXN LOC100130876 DBIL5P GLOD4 GEMIN4 MRM3
dgv3071n100	Chr.17:150721 - 853554 on Build GRCh38	Gain	NXN GEMIN4 LOC100506371 VPS53 FAM57A LOC100506388 C17orf97 LOC105371430 DBIL5P GLOD4 RPH3AL FAM101B MRM3 DOC2B
esv3639625	Chr.17:425092 - 895536 on Build GRCh38	Gain	VPS53 FAM57A NXN DBIL5P GLOD4 GEMIN4 FAM101B MRM3
dgv3072n100	Chr.17:410957 - 881396 on Build GRCh38	Gain	VPS53 FAM57A NXN C17orf97 LOC105371430 DBIL5P GLOD4 GEMIN4 FAM101B MRM3
esv2422420	Chr.17:210752 - 1113141 on Build GRCh38	Duplication	NXN LOC100130876 ABR GEMIN4 TIMM22 MIR3183 LOC101927727 VPS53 FAM57A LOC100506388 C17orf97 LOC105371430 DBIL5P GLOD4 RPH3AL FAM101B MRM3
esv3892944	Chr.17:368038 - 947302 on Build GRCh38	Gain	NXN LOC100130876 GEMIN4 LOC101927727 VPS53 FAM57A C17orf97 LOC105371430 DBIL5P GLOD4 RPH3AL FAM101B MRM3
esv3639638	Chr.17:749023 - 771770 on Build GRCh38	Gain	DBIL5P GLOD4 GEMIN4

More Information

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

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly
rRNA processing
nuclear import

Function(s)

protein binding