Hs04500433_cn

• Gene Symbol: SPATC1L
• Assay Reference Genome Location: Chr.21:46172069 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 84221
• Gene Name: spermatogenesis and centriole associated 1-like
• Gene Aliases: C21orf56
• Location: Chr.21:46161148-46185159 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATC1L	NM_001142854.1			NP_001136326.1
	NM_032261.4			NP_115637.3
	XM_005261188.4			XP_005261245.1
	XM_017028480.1			XP_016883969.1
	AK304535.1
	AK309847.1
	AL136871.1			CAB66805.1
	BC084577.1			AAH84577.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519904	Chr.21:46163592 - 46461396 on Build GRCh38	Loss	DIP2A PCNT SPATC1L YBEY MCM3AP-AS1 C21orf58 MCM3AP LSS
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	SPATC1L FTCD LSS COL6A2
dgv7923n54	Chr.21:46169399 - 46183988 on Build GRCh38	Loss	SPATC1L
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	SPATC1L FTCD LOC101928796 MCM3AP-AS1 COL6A1 MCM3AP PCBP3 LSS COL6A2
nsv3545	Chr.21:46168351 - 46180400 on Build GRCh38	Insertion	SPATC1L
nsv587954	Chr.21:46162188 - 46183551 on Build GRCh38	Loss	SPATC1L
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	PCNT SPATC1L YBEY S100B COL6A1 MCM3AP COL6A2 DIP2A-IT1 DIP2A FTCD LOC101928796 MCM3AP-AS1 PRMT2 C21orf58 PCBP3 LSS
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	PCNT SPATC1L FTCD YBEY MCM3AP-AS1 C21orf58 MCM3AP LSS COL6A2
esv25460	Chr.21:46169173 - 46172007 on Build GRCh38	Loss	SPATC1L

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

molecular_function
protein binding