Hs04086963_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24284990 on build GRCh38
• Cytoband: 22q11.23

Target Gene Details

• Entrez Gene ID: 23384
• Gene Name: sperm antigen with calponin homology and coiled-coil domains 1 like
• Gene Aliases: CYTSA, GBBB2, OBLFC1
• Location: Chr.22:24270817-24417740 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPECC1L	NM_001145468.3			NP_001138940.3
	NM_001254732.2			NP_001241661.2
	NM_015330.4			NP_056145.4
	AK097129.1
	AK301482.1
	AL832425.1			CAH10609.1
	AY884293.1			AAX84184.1
	BC136471.1
	DA385554.1
	HY105216.1

Target Gene Details

• Entrez Gene ID: 101730217
• Gene Name: SPECC1L-ADORA2A readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.22:24270817-24442360 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPECC1L-ADORA2A	NR_103546.1
	AB209022.1			BAD92259.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	LRRC75B CABIN1 CES5AP1 MMP11 GUSBP11 GUCD1 PCAT14 UPB1 GSTTP1 DRICH1 DERL3 GGT5 GSTT2 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 RGL4 SUSD2 SNRPD3 ZNF70 IGLL1 LOC388882 MIF-AS1 ADORA2A C22orf15 SMARCB1 LOC107985555 POM121L9P LOC107985559 MIF ZDHHC8P1 CHCHD10 GSTT2B SLC2A11 DDT LOC101929374 DDTL VPREB3 LOC100652871
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	LRRC75B CABIN1 CES5AP1 MMP11 GUSBP11 GUCD1 PCAT14 UPB1 GSTTP1 DRICH1 DERL3 GGT5 GSTT2 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 RGL4 SUSD2 SNRPD3 ZNF70 IGLL1 LOC388882 MIF-AS1 ADORA2A C22orf15 SMARCB1 LOC107985555 POM121L9P LOC107985559 MIF ZDHHC8P1 CHCHD10 GSTT2B SLC2A11 DDT LOC101929374 DDTL VPREB3 LOC100652871
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	POM121L10P LRRC75B CABIN1 CES5AP1 MMP11 GUSBP11 GUCD1 PCAT14 UPB1 GSTTP1 DRICH1 DERL3 GGT5 GSTT2 BCRP3 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 BCR RGL4 SUSD2 SNRPD3 ZNF70 IGLL1 LOC388882 MIF-AS1 ADORA2A C22orf15 SMARCB1 LOC107985555 POM121L9P LOC107985559 MIF ZDHHC8P1 CHCHD10 GSTT2B SLC2A11 DDT LOC101929374 DDTL VPREB3 LOC100652871
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	LRRC75B CABIN1 ADORA2A GUCD1 POM121L9P UPB1 GSTTP1 GGT5 BCRP3 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 SUSD2 SNRPD3
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	LRRC75B CABIN1 ADORA2A GUCD1 POM121L9P UPB1 GGT5 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 SUSD2 SNRPD3
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	POM121L10P LRRC75B CABIN1 CES5AP1 MMP11 GUSBP11 GUCD1 PCAT14 UPB1 GSTTP1 DRICH1 DERL3 GGT5 GSTT2 BCRP3 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 RGL4 SUSD2 SNRPD3 ZNF70 IGLL1 LOC388882 MIF-AS1 ADORA2A C22orf15 SMARCB1 LOC107985555 POM121L9P LOC107985559 MIF ZDHHC8P1 CHCHD10 GSTT2B SLC2A11 DDT LOC101929374 DDTL VPREB3 LOC100652871
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	POM121L10P LRRC75B CABIN1 CES5AP1 MMP11 GUSBP11 GUCD1 PCAT14 UPB1 GSTTP1 DRICH1 DERL3 GGT5 GSTT2 BCRP3 SPECC1L SPECC1L-ADORA2A ADORA2A-AS1 GGT1 RGL4 SUSD2 SNRPD3 ZNF70 IGLL1 LOC388882 MIF-AS1 ADORA2A C22orf15 SMARCB1 LOC107985555 POM121L9P LOC107985559 MIF ZDHHC8P1 CHCHD10 GSTT2B SLC2A11 DDT LOC101929374 DDTL VPREB3 LOC100652871
nsv834158	Chr.22:24126288 - 24293870 on Build GRCh38	Gain	CABIN1 GGT5 SPECC1L SPECC1L-ADORA2A POM121L9P SUSD2

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division