Hs01225133_cn

• Gene Symbol: TSPEAR
• Assay Reference Genome Location: Chr.21:44499451 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 Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPEAR	NM_001272037.1	13	2470	NP_001258966.1
	NM_144991.2	12	2408	NP_659428.2
	AJ487962.1	12	2408	CAD32309.1
	BC115415.1	10	1934

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834109	Chr.21:44449469 - 44510164 on Build GRCh38	Loss	TSPEAR-AS1 LOC100505727 LRRC3-AS1 TSPEAR LRRC3
nsv953646	Chr.21:44279118 - 44523117 on Build GRCh38	Deletion	TSPEAR-AS1 LOC100505727 LRRC3-AS1 TRPM2-AS TSPEAR PFKL TSPEAR-AS2 LRRC3 TRPM2 AIRE C21orf2
nsv1058359	Chr.21:44304172 - 44547662 on Build GRCh38	Gain	KRTAP10-1 TSPEAR-AS1 LOC100505727 LRRC3-AS1 TRPM2-AS TSPEAR PFKL TSPEAR-AS2 LRRC3 TRPM2 C21orf2
nsv587802	Chr.21:44485022 - 44508296 on Build GRCh38	Loss	TSPEAR-AS1 LOC100505727 TSPEAR
esv2723638	Chr.21:44249174 - 44593709 on Build GRCh38	Deletion	LOC105372833 KRTAP10-6 TSPEAR-AS1 TRPM2-AS PFKL TSPEAR-AS2 C21orf2 DNMT3L KRTAP10-1 KRTAP10-2 KRTAP10-4 LOC100505727 LRRC3-AS1 KRTAP10-5 TSPEAR LRRC3 KRTAP10-3 TRPM2 AIRE
nsv1055163	Chr.21:44475780 - 44646211 on Build GRCh38	Gain	KRTAP10-6 KRTAP10-8 TSPEAR-AS1 TSPEAR-AS2 KRTAP10-9 KRTAP10-1 KRTAP10-10 KRTAP10-2 KRTAP10-4 LOC100505727 KRTAP10-7 KRTAP10-5 TSPEAR KRTAP10-3
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	C21orf33 TRPM2-AS TRAPPC10 KRTAP10-10 AGPAT3 PDXK KRTAP10-11 TSPEAR LRRC3 TRPM2 AATBC LOC105372833 KRTAP10-6 KRTAP10-8 TSPEAR-AS1 PWP2 ICOSLG PFKL TSPEAR-AS2 C21orf2 KRTAP10-9 DNMT3L KRTAP10-1 KRTAP10-2 CSTB KRTAP10-4 LOC100505727 KRTAP10-7 RRP1 LRRC3-AS1 KRTAP10-5 KRTAP10-3 AIRE

More Information

Additional Information:

For this assay, SNP(s) [rs117573900] 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

Panther Classification:

Molecular Function -

intercellular signal molecule

Gene Ontology Categories:

Process(es)

sensory perception of sound

Function(s)

molecular_function