Hs01136860_cn

• Gene Symbol: FAM189A1
• Assay Reference Genome Location: Chr.15:29269383 on build GRCh38
• Cytoband: 15q13.1

Target Gene Details

• Entrez Gene ID: 23359
• Gene Name: family with sequence similarity 189 member A1
• Gene Aliases: TMEM228
• Location: Chr.15:29120252-29570723 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM189A1	NM_015307.1			NP_056122.1
	XM_011521407.2			XP_011519709.1
	DA188047.1

Target Gene Details

• Entrez Gene ID: 56160
• Gene Name: NSE3 homolog, SMC5-SMC6 complex component
• Gene Aliases: HCA4, MAGEG1, MAGEL3, NDNL2, NSE3
• Location: Chr.15:29268149-29269816 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSMCE3	NM_138704.3	1	434	NP_619649.1
	AF490510.1	1	442	AAM08357.1
	AK056957.1	1	427	BAB71325.1
	AK074138.1	1	72	BAB84964.1
	AU310582.1	1	434
	BC041166.1	1	390	AAH41166.2
	BC053999.1	1	406	AAH53999.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1040778	Chr.15:28689598 - 30515727 on Build GRCh38	Loss	GOLGA8R GOLGA8J TJP1 LOC105370746 GOLGA6L7P PDCD6IPP2 FAM189A1 GOLGA8M APBA2 LOC101060569 DKFZP434L187 GOLGA8T ULK4P3 LOC100289656 LOC105370751 CHRFAM7A NSMCE3 LOC100130111 WHAMMP2 LOC107984752
nsv515660	Chr.15:29250908 - 29272431 on Build GRCh38	Gain	NSMCE3 FAM189A1
nsv527255	Chr.15:28754022 - 30074044 on Build GRCh38	Gain	TJP1 LOC100289656 GOLGA6L7P PDCD6IPP2 NSMCE3 FAM189A1 APBA2 LOC100130111 WHAMMP2 LOC107984752
esv2761859	Chr.15:29266382 - 29312594 on Build GRCh38	Loss	NSMCE3 FAM189A1
esv2751526	Chr.15:28724519 - 30687025 on Build GRCh38	Loss	GOLGA8R ULK4P2 TJP1 LOC105370746 FAM189A1 ARHGAP11B DKFZP434L187 LOC100996413 GOLGA8T ULK4P3 LOC105370751 NSMCE3 WHAMMP2 LOC107984752 GOLGA8J LOC100288637 GOLGA6L7P PDCD6IPP2 APBA2 LOC101060569 LOC100289656 GOLGA8H CHRFAM7A LOC100130111 LOC101927579
nsv1039798	Chr.15:28724126 - 30158154 on Build GRCh38	Gain	GOLGA8J TJP1 GOLGA6L7P PDCD6IPP2 FAM189A1 APBA2 GOLGA8T ULK4P3 LOC100289656 NSMCE3 LOC100130111 WHAMMP2 LOC107984752
nsv568675	Chr.15:29035149 - 29916451 on Build GRCh38	Gain	TJP1 NSMCE3 FAM189A1 APBA2 LOC100130111

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

DNA repair
DNA recombination
protein sumoylation
positive regulation of protein ubiquitination
regulation of growth

Function(s)

protein binding