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

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