Hs01688046_cn

• Gene Symbol: FAM189A1
• Assay Reference Genome Location: Chr.15:29269715 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	102	NP_619649.1
	AF490510.1	1	110	AAM08357.1
	AK056957.1	1	95	BAB71325.1
	AU310582.1	1	102
	BC041166.1			AAH41166.2
	BC053999.1	1	74	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	NSMCE3 LOC105370751 LOC105370746 LOC100289656 LOC107984752 ULK4P3 CHRFAM7A GOLGA8T DKFZP434L187 GOLGA6L7P TJP1 FAM189A1 GOLGA8J GOLGA8R PDCD6IPP2 WHAMMP2 APBA2 LOC100130111 LOC101060569 GOLGA8M
nsv515660	Chr.15:29250908 - 29272431 on Build GRCh38	Gain	NSMCE3 FAM189A1
nsv527255	Chr.15:28754022 - 30074044 on Build GRCh38	Gain	GOLGA6L7P TJP1 NSMCE3 FAM189A1 LOC100289656 LOC107984752 PDCD6IPP2 WHAMMP2 APBA2 LOC100130111
esv2761859	Chr.15:29266382 - 29312594 on Build GRCh38	Loss	NSMCE3 FAM189A1
esv2751526	Chr.15:28724519 - 30687025 on Build GRCh38	Loss	ARHGAP11B NSMCE3 LOC105370751 LOC105370746 LOC101927579 LOC107984752 ULK4P3 ULK4P2 GOLGA8T GOLGA6L7P TJP1 FAM189A1 PDCD6IPP2 APBA2 LOC100130111 LOC100996413 LOC100289656 GOLGA8H CHRFAM7A DKFZP434L187 GOLGA8J GOLGA8R LOC100288637 WHAMMP2 LOC101060569
nsv1039798	Chr.15:28724126 - 30158154 on Build GRCh38	Gain	NSMCE3 LOC100289656 LOC107984752 ULK4P3 GOLGA8T GOLGA6L7P TJP1 FAM189A1 GOLGA8J PDCD6IPP2 WHAMMP2 APBA2 LOC100130111
nsv568675	Chr.15:29035149 - 29916451 on Build GRCh38	Gain	TJP1 NSMCE3 FAM189A1 APBA2 LOC100130111

More Information

Additional Information:

For this assay, SNP(s) [rs138861482] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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