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	TJP1 FAM189A1 GOLGA8M WHAMMP2 LOC107984752 CHRFAM7A LOC100130111 GOLGA6L7P GOLGA8R LOC105370751 PDCD6IPP2 GOLGA8J LOC100289656 LOC105370746 NSMCE3 LOC101060569 APBA2 DKFZP434L187 GOLGA8T ULK4P3
nsv515660	Chr.15:29250908 - 29272431 on Build GRCh38	Gain	FAM189A1 NSMCE3
nsv527255	Chr.15:28754022 - 30074044 on Build GRCh38	Gain	LOC100130111 GOLGA6L7P TJP1 PDCD6IPP2 LOC100289656 FAM189A1 NSMCE3 APBA2 WHAMMP2 LOC107984752
nsv1039798	Chr.15:28724126 - 30158154 on Build GRCh38	Gain	TJP1 FAM189A1 WHAMMP2 LOC107984752 LOC100130111 GOLGA6L7P PDCD6IPP2 GOLGA8J LOC100289656 NSMCE3 APBA2 GOLGA8T ULK4P3
nsv522597	Chr.15:28724519 - 30074044 on Build GRCh38	Loss	LOC100130111 GOLGA6L7P TJP1 PDCD6IPP2 LOC100289656 FAM189A1 NSMCE3 APBA2 WHAMMP2 LOC107984752
esv2761859	Chr.15:29266382 - 29312594 on Build GRCh38	Loss	FAM189A1 NSMCE3
nsv568675	Chr.15:29035149 - 29916451 on Build GRCh38	Gain	LOC100130111 TJP1 FAM189A1 NSMCE3 APBA2

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