Hs01552257_cn

• Gene Symbol: GEMIN4
• Assay Reference Genome Location: Chr.17:747217 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	945	NP_056536.2
	XM_005256667.4	3	1062	XP_005256724.1
	XM_005256670.4	2	1067	XP_005256727.1
	XM_011523910.2	3	1323	XP_011522212.1
	XM_011523911.2	3	1163	XP_011522213.1
	XM_011523912.2	2	2463	XP_011522214.1
	XM_011523913.2	2	1349	XP_011522215.1
	XM_017024709.1	4	1415	XP_016880198.1
	AF173856.1	2	849	AAF35283.1
	AF177341.2	1	2135	AAG17985.1
	AK302722.1	3	596
	AL080150.1	1	272	CAB45743.3
	BC020062.1	2	875	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	NXN DBIL5P FAM57A GLOD4 FAM101B VPS53 MRM3 LOC105371430 C17orf97 GEMIN4
dgv3074n100	Chr.17:717681 - 865635 on Build GRCh38	Gain	NXN DBIL5P FAM57A GLOD4 MRM3 GEMIN4
nsv1057000	Chr.17:664913 - 866713 on Build GRCh38	Gain	NXN DBIL5P FAM57A GLOD4 VPS53 MRM3 GEMIN4
dgv5389n54	Chr.17:633174 - 937565 on Build GRCh38	Gain	NXN DBIL5P FAM57A GLOD4 VPS53 MRM3 LOC101927727 GEMIN4
nsv1064955	Chr.17:567977 - 797758 on Build GRCh38	Gain	DBIL5P FAM57A GLOD4 VPS53 MRM3 GEMIN4
esv2758673	Chr.17:718346 - 1158111 on Build GRCh38	Gain	NXN DBIL5P LOC100130876 FAM57A GLOD4 MRM3 LOC101927727 GEMIN4 TIMM22 ABR MIR3183
nsv469891	Chr.17:663703 - 837834 on Build GRCh38	Loss	NXN DBIL5P FAM57A GLOD4 VPS53 MRM3 GEMIN4
nsv1063272	Chr.17:707786 - 789280 on Build GRCh38	Gain	DBIL5P FAM57A GLOD4 VPS53 MRM3 GEMIN4
dgv5387n54	Chr.17:494867 - 994065 on Build GRCh38	Loss	NXN DBIL5P LOC100130876 FAM57A GLOD4 VPS53 MRM3 LOC101927727 GEMIN4
dgv3071n100	Chr.17:150721 - 853554 on Build GRCh38	Gain	FAM57A FAM101B RPH3AL NXN LOC100506371 DBIL5P GLOD4 DOC2B VPS53 MRM3 LOC105371430 C17orf97 GEMIN4 LOC100506388
esv3639625	Chr.17:425092 - 895536 on Build GRCh38	Gain	NXN DBIL5P FAM57A GLOD4 FAM101B VPS53 MRM3 GEMIN4
dgv3072n100	Chr.17:410957 - 881396 on Build GRCh38	Gain	NXN DBIL5P FAM57A GLOD4 FAM101B VPS53 MRM3 LOC105371430 C17orf97 GEMIN4
esv2422420	Chr.17:210752 - 1113141 on Build GRCh38	Duplication	FAM57A FAM101B ABR RPH3AL NXN DBIL5P LOC100130876 GLOD4 VPS53 MRM3 LOC105371430 LOC101927727 C17orf97 GEMIN4 LOC100506388 TIMM22 MIR3183
esv3892944	Chr.17:368038 - 947302 on Build GRCh38	Gain	FAM57A FAM101B RPH3AL NXN DBIL5P LOC100130876 GLOD4 VPS53 MRM3 LOC105371430 LOC101927727 C17orf97 GEMIN4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly
rRNA processing
nuclear import

Function(s)

protein binding