Hs01677054_cn

• Gene Symbol: SPATC1L
• Assay Reference Genome Location: Chr.21:46184373 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: Overlaps Intron 1 - Exon 1

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	PCNT C21orf58 MCM3AP LSS SPATC1L MCM3AP-AS1 YBEY DIP2A
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	COL6A2 LSS SPATC1L FTCD
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	COL6A2 COL6A1 PCBP3 MCM3AP LOC101928796 LSS SPATC1L FTCD MCM3AP-AS1
esv25247	Chr.21:46183446 - 46184436 on Build GRCh38	Loss	SPATC1L
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	C21orf58 COL6A2 PCBP3 PRMT2 MCM3AP DIP2A-IT1 FTCD YBEY PCNT COL6A1 LOC101928796 LSS SPATC1L MCM3AP-AS1 DIP2A S100B
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	PCNT C21orf58 COL6A2 MCM3AP LSS SPATC1L FTCD MCM3AP-AS1 YBEY

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

molecular_function
protein binding