Hs04070413_cn

• Gene Symbol: TSPEAR
• Assay Reference Genome Location: Chr.21:44509893 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: Overlaps Exon 6 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPEAR-AS1	NR_103707.1
	AJ003491.1
	AJ003549.1
	AJ003550.1

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

More Information

• 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