Hs01306818_cn

• Gene Symbol: GEMIN4
• Assay Reference Genome Location: Chr.17:744883 on build GRCh38
• Cytoband: 17p13.3

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: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GEMIN4	NM_015721.2	2	3279	NP_056536.2
	XM_005256667.4	3	3396	XP_005256724.1
	XM_005256670.4	2	3401	XP_005256727.1
	XM_011523910.2	3	3657	XP_011522212.1
	XM_011523911.2	3	3497	XP_011522213.1
	XM_011523912.2	2	4797	XP_011522214.1
	XM_011523913.2	2	3683	XP_011522215.1
	XM_017024709.1	4	3749	XP_016880198.1
	AF173856.1	2	3183	AAF35283.1
	AF177341.2	1	4469	AAG17985.1
	AL080150.1	1	2606	CAB45743.3
	AL080167.1	1	441	CAB45755.1
	BC020062.1	2	3209	AAH20062.1

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	GEMIN4 DBIL5P FAM101B FAM57A LOC105371430 VPS53 MRM3 C17orf97 NXN GLOD4
dgv3074n100	Chr.17:717681 - 865635 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A MRM3 NXN GLOD4
nsv574075	Chr.17:632287 - 745992 on Build GRCh38	Loss	GEMIN4 FAM57A VPS53
nsv1057000	Chr.17:664913 - 866713 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A VPS53 MRM3 NXN GLOD4
dgv5389n54	Chr.17:633174 - 937565 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A LOC101927727 VPS53 MRM3 NXN GLOD4
nsv1064955	Chr.17:567977 - 797758 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A VPS53 MRM3 GLOD4
nsv574090	Chr.17:697017 - 745827 on Build GRCh38	Gain	GEMIN4 FAM57A VPS53
esv2758673	Chr.17:718346 - 1158111 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A LOC101927727 LOC100130876 ABR MRM3 TIMM22 NXN MIR3183 GLOD4
nsv469891	Chr.17:663703 - 837834 on Build GRCh38	Loss	GEMIN4 DBIL5P FAM57A VPS53 MRM3 NXN GLOD4
dgv3071n100	Chr.17:150721 - 853554 on Build GRCh38	Gain	DBIL5P LOC100506371 LOC100506388 RPH3AL GEMIN4 FAM101B FAM57A LOC105371430 DOC2B VPS53 MRM3 C17orf97 NXN GLOD4
nsv1063272	Chr.17:707786 - 789280 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A VPS53 MRM3 GLOD4
dgv5387n54	Chr.17:494867 - 994065 on Build GRCh38	Loss	GEMIN4 DBIL5P FAM57A LOC101927727 LOC100130876 VPS53 MRM3 NXN GLOD4
esv3639625	Chr.17:425092 - 895536 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM101B FAM57A VPS53 MRM3 NXN GLOD4
dgv3072n100	Chr.17:410957 - 881396 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM101B FAM57A LOC105371430 VPS53 MRM3 C17orf97 NXN GLOD4
esv2422420	Chr.17:210752 - 1113141 on Build GRCh38	Duplication	DBIL5P LOC101927727 TIMM22 LOC100506388 MIR3183 RPH3AL GEMIN4 FAM101B FAM57A LOC105371430 LOC100130876 ABR VPS53 MRM3 C17orf97 NXN GLOD4
esv3892944	Chr.17:368038 - 947302 on Build GRCh38	Gain	DBIL5P LOC101927727 RPH3AL GEMIN4 FAM101B FAM57A LOC105371430 LOC100130876 VPS53 MRM3 C17orf97 NXN GLOD4
esv3639636	Chr.17:717626 - 746281 on Build GRCh38	Gain	GEMIN4 FAM57A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly
rRNA processing
nuclear import

Function(s)

protein binding