Hs00209567_cn

• Gene Symbol: FAM189A1
• Assay Reference Genome Location: Chr.15:29269117 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	700	NP_619649.1
	AF490510.1	1	708	AAM08357.1
	AK056957.1	1	693	BAB71325.1
	AK074138.1	1	338	BAB84964.1
	BC041166.1	1	656	AAH41166.2
	BC053999.1	1	672	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	GOLGA6L7P GOLGA8R WHAMMP2 LOC100289656 LOC107984752 LOC105370746 DKFZP434L187 GOLGA8M CHRFAM7A ULK4P3 LOC101060569 FAM189A1 LOC105370751 APBA2 TJP1 PDCD6IPP2 LOC100130111 GOLGA8T NSMCE3 GOLGA8J
nsv515660	Chr.15:29250908 - 29272431 on Build GRCh38	Gain	FAM189A1 NSMCE3
nsv527255	Chr.15:28754022 - 30074044 on Build GRCh38	Gain	FAM189A1 APBA2 GOLGA6L7P TJP1 WHAMMP2 LOC100289656 LOC107984752 PDCD6IPP2 LOC100130111 NSMCE3
nsv1039798	Chr.15:28724126 - 30158154 on Build GRCh38	Gain	GOLGA6L7P WHAMMP2 LOC100289656 LOC107984752 ULK4P3 FAM189A1 APBA2 TJP1 PDCD6IPP2 LOC100130111 GOLGA8T NSMCE3 GOLGA8J
nsv522597	Chr.15:28724519 - 30074044 on Build GRCh38	Loss	FAM189A1 APBA2 GOLGA6L7P TJP1 WHAMMP2 LOC100289656 LOC107984752 PDCD6IPP2 LOC100130111 NSMCE3
esv2761859	Chr.15:29266382 - 29312594 on Build GRCh38	Loss	FAM189A1 NSMCE3
nsv568675	Chr.15:29035149 - 29916451 on Build GRCh38	Gain	FAM189A1 APBA2 TJP1 LOC100130111 NSMCE3

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