Hs03973099_cn

• Gene Symbol: GEMIN4
• Assay Reference Genome Location: Chr.17:750389 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GEMIN4	NM_015721.2			NP_056536.2
	XM_005256667.4			XP_005256724.1
	XM_005256670.4			XP_005256727.1
	XM_011523910.2			XP_011522212.1
	XM_011523911.2			XP_011522213.1
	XM_011523912.2	1	1255	XP_011522214.1
	XM_011523913.2			XP_011522215.1
	XM_017024709.1			XP_016880198.1
	AF173856.1			AAF35283.1
	AK302722.1
	BC020062.1			AAH20062.1
	DB455185.1

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly
rRNA processing
nuclear import

Function(s)

protein binding