Hs01859989_cn

• Gene Symbol: C21orf2
• Assay Reference Genome Location: Chr.21:44329243 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 755
• Gene Name: chromosome 21 open reading frame 2
• Gene Aliases: LRRC76, YF5/A2
• Location: Chr.21:44328944-44339417 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C21orf2	NM_001271440.1	7	1931	NP_001258369.1
	NM_001271441.1	7	2291	NP_001258370.1
	NM_001271442.1	8	1839	NP_001258371.1
	NM_004928.2	7	1934	NP_004919.1
	XM_006724051.3	6	2063	XP_006724114.1
	XM_006724053.3	6	1740	XP_006724116.1
	XM_017028470.1	7	1942	XP_016883959.1
	XM_017028471.1	6	1764	XP_016883960.1
	XM_017028472.1	6	1819	XP_016883961.1
	Y11392.1	7	1794	CAA72202.1
	Z93322.1	7	1733	CAB07532.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647130	Chr.21:44324439 - 44335228 on Build GRCh38	Gain	PFKL C21orf2
nsv953646	Chr.21:44279118 - 44523117 on Build GRCh38	Deletion	TRPM2-AS TSPEAR-AS1 LOC100505727 LRRC3 PFKL TRPM2 AIRE LRRC3-AS1 C21orf2 TSPEAR TSPEAR-AS2
nsv1058359	Chr.21:44304172 - 44547662 on Build GRCh38	Gain	TRPM2-AS TSPEAR-AS1 LOC100505727 LRRC3 PFKL TRPM2 LRRC3-AS1 C21orf2 TSPEAR TSPEAR-AS2 KRTAP10-1
esv2723638	Chr.21:44249174 - 44593709 on Build GRCh38	Deletion	TSPEAR-AS1 KRTAP10-2 KRTAP10-4 KRTAP10-3 PFKL LRRC3-AS1 C21orf2 KRTAP10-5 DNMT3L TRPM2-AS LOC105372833 LOC100505727 LRRC3 TRPM2 AIRE TSPEAR TSPEAR-AS2 KRTAP10-1 KRTAP10-6
nsv587779	Chr.21:44300477 - 44330463 on Build GRCh38	Loss	PFKL C21orf2
nsv509800	Chr.21:44284048 - 44471571 on Build GRCh38	Insertion	TRPM2-AS LRRC3 PFKL TRPM2 AIRE LRRC3-AS1 C21orf2
nsv587740	Chr.21:44209682 - 44429981 on Build GRCh38	Loss	TRPM2-AS ICOSLG LOC105372833 PFKL TRPM2 AIRE C21orf2 DNMT3L
nsv587780	Chr.21:44302559 - 44344514 on Build GRCh38	Loss	PFKL C21orf2
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	KRTAP10-7 KRTAP10-2 KRTAP10-10 PFKL C21orf2 AGPAT3 C21orf33 TRAPPC10 CSTB PWP2 TRPM2-AS RRP1 LOC100505727 LRRC3 KRTAP10-9 PDXK AATBC KRTAP10-11 TSPEAR TSPEAR-AS2 KRTAP10-1 ICOSLG TSPEAR-AS1 KRTAP10-4 KRTAP10-3 LRRC3-AS1 KRTAP10-5 DNMT3L LOC105372833 TRPM2 AIRE KRTAP10-8 KRTAP10-6

More Information

Additional Information:

For this assay, SNP(s) [rs73907166] 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, DGV Variation

Gene Ontology Categories:

Process(es)

cytoskeleton organization
smoothened signaling pathway
regulation of cell shape
cilium morphogenesis

Function(s)

molecular_function
protein binding