Hs02115428_cn

• Gene Symbol: LMNTD2
• Assay Reference Genome Location: Chr.11:558173 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 256329
• Gene Name: lamin tail domain containing 2
• Gene Aliases: C11orf35
• Location: Chr.11:554850-560780 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LMNTD2	NM_173573.2			NP_775844.2
	XM_011519965.2			XP_011518267.2
	XM_011519967.2			XP_011518269.2
	XM_017017476.1			XP_016872965.1
	XM_017017477.1			XP_016872966.1
	XM_017017478.1			XP_016872967.1
	XM_017017479.1			XP_016872968.1
	BC039077.1			AAH39077.1
	BX384085.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv552854	Chr.11:511805 - 619789 on Build GRCh38	Loss	RASSF7 HRAS MIR210HG MIR210 LMNTD2 LOC143666 PHRF1 LOC101059906 IRF7 CDHR5 LRRC56
dgv1523n54	Chr.11:557342 - 656940 on Build GRCh38	Gain	SCT RASSF7 MIR210HG MIR210 LMNTD2 DRD4 LOC143666 PHRF1 IRF7 DEAF1 CDHR5
nsv527327	Chr.11:295343 - 620599 on Build GRCh38	Loss	SIGIRR RNH1 MIR210HG MIR210 PGGHG LOC143666 PHRF1 IRF7 IFITM5 CDHR5 IFITM3 RASSF7 HRAS PKP3 IFITM1 LMNTD2 PTDSS2 B4GALNT4 LOC101059906 IFITM2 LRRC56 ANO9
nsv951270	Chr.11:528401 - 628100 on Build GRCh38	Deletion	SCT RASSF7 HRAS MIR210HG MIR210 LMNTD2 LOC143666 PHRF1 LOC101059906 IRF7 CDHR5 LRRC56
nsv469923	Chr.11:378188 - 1302334 on Build GRCh38	Loss	SIGIRR AP2A2 MIR210 POLR2L MIR6744 CRACR2B EPS8L2 IRF7 CDHR5 SCT RASSF7 HRAS TALDO1 LMNTD2 MUC2 PNPLA2 B4GALNT4 LOC101059906 RPLP2 PIDD1 CHID1 LRRC56 ANO9 SLC25A22 MUC5AC RNH1 MIR210HG CD151 PDDC1 MUC5B LOC143666 LOC101927503 TMEM80 MUC6 PHRF1 SNORA52 TOLLIP PANO1 TSPAN4 LOC171391 PKP3 PTDSS2 DRD4 CEND1 DEAF1
esv3625070	Chr.11:553728 - 559392 on Build GRCh38	Loss	LMNTD2 LRRC56
esv2759794	Chr.11:409846 - 1336162 on Build GRCh38	Loss	SIGIRR AP2A2 MIR210 POLR2L MIR6744 TOLLIP-AS1 CRACR2B EPS8L2 IRF7 CDHR5 SCT RASSF7 HRAS TALDO1 LMNTD2 MUC2 PNPLA2 LOC101059906 RPLP2 PIDD1 CHID1 LRRC56 ANO9 SLC25A22 MUC5AC RNH1 MIR210HG CD151 PDDC1 MUC5B LOC143666 LOC101927503 TMEM80 MUC6 PHRF1 SNORA52 TOLLIP PANO1 TSPAN4 LOC171391 PTDSS2 DRD4 CEND1 DEAF1
nsv1039558	Chr.11:534242 - 672091 on Build GRCh38	Gain	MIR210HG MIR210 LOC143666 PHRF1 IRF7 CDHR5 SCT RASSF7 HRAS LMNTD2 DRD4 DEAF1 LRRC56
dgv182e199	Chr.11:349830 - 943372 on Build GRCh38	Deletion	SIGIRR AP2A2 MIR210 POLR2L CRACR2B EPS8L2 IRF7 CDHR5 SCT RASSF7 HRAS TALDO1 LMNTD2 PNPLA2 B4GALNT4 LOC101059906 RPLP2 PIDD1 CHID1 LRRC56 ANO9 SLC25A22 RNH1 MIR210HG CD151 PDDC1 LOC143666 TMEM80 PHRF1 SNORA52 PANO1 TSPAN4 LOC171391 PKP3 PTDSS2 DRD4 CEND1 DEAF1
nsv1053964	Chr.11:491334 - 692433 on Build GRCh38	Gain	RNH1 MIR210HG MIR210 LOC143666 PHRF1 IRF7 CDHR5 SCT RASSF7 HRAS LMNTD2 PTDSS2 DRD4 LOC101059906 DEAF1 LRRC56
nsv1159791	Chr.11:461793 - 909492 on Build GRCh38	Deletion	MIR210 POLR2L CRACR2B EPS8L2 IRF7 CDHR5 SCT RASSF7 HRAS TALDO1 LMNTD2 PNPLA2 LOC101059906 RPLP2 PIDD1 CHID1 LRRC56 SLC25A22 RNH1 MIR210HG CD151 PDDC1 LOC143666 TMEM80 PHRF1 SNORA52 PANO1 TSPAN4 LOC171391 PTDSS2 DRD4 CEND1 DEAF1
nsv469924	Chr.11:549119 - 609887 on Build GRCh38	Gain	RASSF7 MIR210HG MIR210 LMNTD2 LOC143666 PHRF1 LRRC56

More Information

Additional Information:

For this assay, SNP(s) [rs79820513] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

positive regulation of mRNA splicing, via spliceosome