Hs01249249_cn

• Gene Symbol: SPIRE1
• Assay Reference Genome Location: Chr.18:12452267 on build GRCh38
• Cytoband: 18p11.21

Target Gene Details

• Entrez Gene ID: 56907
• Gene Name: spire type actin nucleation factor 1
• Gene Aliases: Spir-1
• Location: Chr.18:12446512-12658102 on Build GRCh38
• Assay Gene Location: Overlaps Intron 20 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPIRE1	NM_001128626.1			NP_001122098.1
	NM_001128627.1			NP_001122099.1
	NM_020148.2			NP_064533.3
	XM_005258122.4			XP_005258179.1
	XM_011525701.1			XP_011524003.1
	XM_011525702.1			XP_011524004.1
	AB032961.2
	AJ277587.1			CAB96370.1
	AK290180.1
	AK301711.1
	AL833817.1			CAD38680.1
	BC016825.1			AAH16825.1
	BC115005.1			AAI15006.1
	BC125206.1
	BC125207.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1060808	Chr.18:12302793 - 12514418 on Build GRCh38	Gain	LOC105371998 TUBB6 SPIRE1 PRELID3A AFG3L2
nsv576496	Chr.18:12247873 - 12490503 on Build GRCh38	Gain	LOC105371998 TUBB6 CIDEA SPIRE1 PRELID3A AFG3L2
nsv1063125	Chr.18:12046893 - 12918252 on Build GRCh38	Loss	LOC100996324 LOC105371998 PRELID3A PTPN2 PSMG2 TUBB6 LOC100996333 CIDEA C18orf61 CEP76 SPIRE1 ANKRD62 AFG3L2
esv2758714	Chr.18:12240682 - 12499526 on Build GRCh38	Loss	LOC105371998 TUBB6 CIDEA SPIRE1 PRELID3A AFG3L2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

protein transport
vesicle-mediated transport
actin cytoskeleton organization
cleavage furrow formation
polar body extrusion after meiotic divisions
actin nucleation
intracellular transport
establishment of meiotic spindle localization
formin-nucleated actin cable assembly

Function(s)

actin binding