Hs01484955_cn

• Gene Symbol: FAM189A1
• Assay Reference Genome Location: Chr.15:29268710 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	1107	NP_619649.1
	AF490510.1	1	1115	AAM08357.1
	AK056957.1	1	1100	BAB71325.1
	AK074138.1	1	745	BAB84964.1
	BC041166.1	1	1063	AAH41166.2
	BC053999.1	1	1079	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	LOC107984752 GOLGA8J LOC105370746 GOLGA8R WHAMMP2 NSMCE3 LOC101060569 ULK4P3 TJP1 FAM189A1 APBA2 GOLGA8T DKFZP434L187 LOC105370751 LOC100289656 CHRFAM7A LOC100130111 GOLGA8M GOLGA6L7P PDCD6IPP2
nsv515660	Chr.15:29250908 - 29272431 on Build GRCh38	Gain	NSMCE3 FAM189A1
nsv527255	Chr.15:28754022 - 30074044 on Build GRCh38	Gain	LOC107984752 APBA2 WHAMMP2 LOC100289656 NSMCE3 LOC100130111 TJP1 GOLGA6L7P PDCD6IPP2 FAM189A1
esv2761859	Chr.15:29266382 - 29312594 on Build GRCh38	Loss	NSMCE3 FAM189A1
esv2751526	Chr.15:28724519 - 30687025 on Build GRCh38	Loss	GOLGA8J ARHGAP11B LOC105370746 GOLGA8R WHAMMP2 NSMCE3 ULK4P3 GOLGA8T ULK4P2 DKFZP434L187 LOC100130111 GOLGA6L7P LOC107984752 LOC101927579 LOC101060569 LOC100996413 TJP1 LOC100288637 FAM189A1 GOLGA8H APBA2 LOC105370751 LOC100289656 CHRFAM7A PDCD6IPP2
nsv1039798	Chr.15:28724126 - 30158154 on Build GRCh38	Gain	LOC107984752 GOLGA8J WHAMMP2 NSMCE3 ULK4P3 TJP1 FAM189A1 APBA2 GOLGA8T LOC100289656 LOC100130111 GOLGA6L7P PDCD6IPP2
nsv568675	Chr.15:29035149 - 29916451 on Build GRCh38	Gain	APBA2 NSMCE3 LOC100130111 TJP1 FAM189A1

More Information

Additional Information:

For this assay, SNP(s) [rs115017847,rs115728036] 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