Hs01142227_cn

• Gene Symbol: GEMIN4
• Assay Reference Genome Location: Chr.17:746073 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	2089	NP_056536.2
	XM_005256667.4	3	2206	XP_005256724.1
	XM_005256670.4	2	2211	XP_005256727.1
	XM_011523910.2	3	2467	XP_011522212.1
	XM_011523911.2	3	2307	XP_011522213.1
	XM_011523912.2	2	3607	XP_011522214.1
	XM_011523913.2	2	2493	XP_011522215.1
	XM_017024709.1	4	2559	XP_016880198.1
	AF173856.1	2	1993	AAF35283.1
	AF177341.2	1	3279	AAG17985.1
	AL080150.1	1	1416	CAB45743.3
	BC020062.1	2	2019	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	FAM57A GLOD4 LOC105371430 MRM3 FAM101B C17orf97 NXN GEMIN4 DBIL5P VPS53
dgv3074n100	Chr.17:717681 - 865635 on Build GRCh38	Gain	FAM57A GLOD4 MRM3 NXN GEMIN4 DBIL5P
nsv1057000	Chr.17:664913 - 866713 on Build GRCh38	Gain	FAM57A GLOD4 MRM3 NXN GEMIN4 DBIL5P VPS53
dgv5389n54	Chr.17:633174 - 937565 on Build GRCh38	Gain	FAM57A GLOD4 MRM3 LOC101927727 NXN GEMIN4 DBIL5P VPS53
nsv1064955	Chr.17:567977 - 797758 on Build GRCh38	Gain	FAM57A GLOD4 MRM3 GEMIN4 DBIL5P VPS53
esv2758673	Chr.17:718346 - 1158111 on Build GRCh38	Gain	MIR3183 FAM57A GLOD4 ABR MRM3 LOC101927727 NXN TIMM22 LOC100130876 GEMIN4 DBIL5P
nsv469891	Chr.17:663703 - 837834 on Build GRCh38	Loss	FAM57A GLOD4 MRM3 NXN GEMIN4 DBIL5P VPS53
nsv1063272	Chr.17:707786 - 789280 on Build GRCh38	Gain	FAM57A GLOD4 MRM3 GEMIN4 DBIL5P VPS53
dgv5387n54	Chr.17:494867 - 994065 on Build GRCh38	Loss	FAM57A GLOD4 MRM3 LOC101927727 NXN LOC100130876 GEMIN4 DBIL5P VPS53
dgv3071n100	Chr.17:150721 - 853554 on Build GRCh38	Gain	FAM57A LOC105371430 MRM3 DOC2B FAM101B NXN GEMIN4 DBIL5P LOC100506388 RPH3AL LOC100506371 GLOD4 C17orf97 VPS53
esv3639625	Chr.17:425092 - 895536 on Build GRCh38	Gain	FAM57A GLOD4 MRM3 FAM101B NXN GEMIN4 DBIL5P VPS53
dgv3072n100	Chr.17:410957 - 881396 on Build GRCh38	Gain	FAM57A GLOD4 LOC105371430 MRM3 FAM101B C17orf97 NXN GEMIN4 DBIL5P VPS53
esv2422420	Chr.17:210752 - 1113141 on Build GRCh38	Duplication	MIR3183 FAM57A ABR LOC105371430 MRM3 FAM101B NXN TIMM22 GEMIN4 DBIL5P LOC100506388 RPH3AL GLOD4 LOC101927727 C17orf97 LOC100130876 VPS53
esv3639636	Chr.17:717626 - 746281 on Build GRCh38	Gain	FAM57A GEMIN4
esv3892944	Chr.17:368038 - 947302 on Build GRCh38	Gain	FAM57A LOC105371430 MRM3 FAM101B NXN GEMIN4 DBIL5P RPH3AL GLOD4 LOC101927727 C17orf97 LOC100130876 VPS53

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly
rRNA processing
nuclear import

Function(s)

protein binding