Hs02499007_cn

• Gene Symbol: SPIRE1
• Assay Reference Genome Location: Chr.18:12449244 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: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPIRE1	NM_001128626.1	17	2712	NP_001122098.1
	NM_001128627.1	16	2368	NP_001122099.1
	NM_020148.2	16	2670	NP_064533.3
	XM_005258122.4	17	3027	XP_005258179.1
	XM_011525701.1	18	3075	XP_011524003.1
	XM_011525702.1	18	2587	XP_011524004.1
	AB032961.2	17	2764
	AJ277587.1	14	2257	CAB96370.1
	AK025433.1	1	626
	BC016825.1	4	869	AAH16825.1
	BC115005.1	16	2495	AAI15006.1
	BC125206.1	15	2226
	BC125207.1	14	2184

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	PRELID3A SPIRE1 TUBB6 LOC105371998 AFG3L2
nsv576496	Chr.18:12247873 - 12490503 on Build GRCh38	Gain	PRELID3A SPIRE1 TUBB6 CIDEA LOC105371998 AFG3L2
nsv1063125	Chr.18:12046893 - 12918252 on Build GRCh38	Loss	LOC100996333 LOC100996324 C18orf61 CEP76 SPIRE1 TUBB6 CIDEA AFG3L2 ANKRD62 PSMG2 PRELID3A PTPN2 LOC105371998
esv2758714	Chr.18:12240682 - 12499526 on Build GRCh38	Loss	PRELID3A SPIRE1 TUBB6 CIDEA LOC105371998 AFG3L2

More Information

• Set Membership: Intragenic, 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