Hs07494267_cn

• Gene Symbol: TSPEAR
• Assay Reference Genome Location: Chr.21:44511972 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 54084
• Gene Name: thrombospondin type laminin G domain and EAR repeats
• Gene Aliases: C21orf29, DFNB98, TSP-EAR
• Location: Chr.21:44497892-44711580 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPEAR	NM_001272037.1			NP_001258966.1
	NM_144991.2			NP_659428.2
	AJ487962.1			CAD32309.1
	BC021197.2			AAH21197.2
	BC115415.1

Target Gene Details

• Entrez Gene ID: 54082
• Gene Name: TSPEAR antisense RNA 1
• Gene Aliases: C21orf31
• Location: Chr.21:44506044-44516575 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPEAR-AS1	NR_103707.1
	AJ003491.1
	AJ003550.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953646	Chr.21:44279118 - 44523117 on Build GRCh38	Deletion	TRPM2-AS LRRC3-AS1 TRPM2 C21orf2 LOC100505727 TSPEAR-AS1 AIRE TSPEAR PFKL LRRC3 TSPEAR-AS2
nsv1058359	Chr.21:44304172 - 44547662 on Build GRCh38	Gain	TRPM2-AS LRRC3-AS1 TRPM2 C21orf2 LOC100505727 TSPEAR-AS1 TSPEAR PFKL KRTAP10-1 LRRC3 TSPEAR-AS2
esv2723638	Chr.21:44249174 - 44593709 on Build GRCh38	Deletion	KRTAP10-4 KRTAP10-6 KRTAP10-2 DNMT3L TSPEAR KRTAP10-1 LRRC3 KRTAP10-3 LOC105372833 TRPM2-AS LRRC3-AS1 TRPM2 C21orf2 LOC100505727 TSPEAR-AS1 AIRE KRTAP10-5 PFKL TSPEAR-AS2
nsv1055163	Chr.21:44475780 - 44646211 on Build GRCh38	Gain	KRTAP10-8 KRTAP10-4 KRTAP10-6 KRTAP10-7 KRTAP10-2 TSPEAR KRTAP10-1 KRTAP10-3 LOC100505727 TSPEAR-AS1 KRTAP10-5 KRTAP10-9 KRTAP10-10 TSPEAR-AS2
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	KRTAP10-7 AGPAT3 RRP1 KRTAP10-2 DNMT3L TSPEAR KRTAP10-1 LOC105372833 TRPM2 PWP2 C21orf2 LOC100505727 TSPEAR-AS1 KRTAP10-5 KRTAP10-9 TSPEAR-AS2 KRTAP10-11 PDXK KRTAP10-8 KRTAP10-4 KRTAP10-6 ICOSLG LRRC3 KRTAP10-3 TRPM2-AS LRRC3-AS1 CSTB AATBC AIRE KRTAP10-10 TRAPPC10 PFKL C21orf33

More Information

Additional Information:

For this assay, SNP(s) [rs115362878] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

intercellular signal molecule

Gene Ontology Categories:

Process(es)

sensory perception of sound

Function(s)

molecular_function