Hs04504482_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24286513 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	GGT5 SNRPD3 VPREB3 LRRC75B SUSD2 PCAT14 IGLL1 LOC101929374 LOC107985559 ZDHHC8P1 GGT1 DRICH1 LOC107985555 SPECC1L-ADORA2A DDTL RGL4 CABIN1 MIF-AS1 GSTT2 CHCHD10 DDT SPECC1L MIF ADORA2A-AS1 ZNF70 GUSBP11 CES5AP1 GUCD1 GSTT2B GSTTP1 POM121L9P MMP11 SMARCB1 ADORA2A LOC388882 UPB1 DERL3 C22orf15 LOC100652871 SLC2A11
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	GGT5 SNRPD3 VPREB3 LRRC75B SUSD2 PCAT14 IGLL1 LOC101929374 LOC107985559 ZDHHC8P1 GGT1 DRICH1 BCR LOC107985555 SPECC1L-ADORA2A DDTL POM121L10P RGL4 CABIN1 MIF-AS1 GSTT2 CHCHD10 DDT BCRP3 SPECC1L MIF ADORA2A-AS1 ZNF70 GUSBP11 CES5AP1 GUCD1 GSTT2B GSTTP1 POM121L9P MMP11 SMARCB1 ADORA2A LOC388882 UPB1 DERL3 C22orf15 LOC100652871 SLC2A11
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	GGT5 SNRPD3 VPREB3 LRRC75B SUSD2 PCAT14 IGLL1 LOC101929374 LOC107985559 ZDHHC8P1 GGT1 DRICH1 LOC107985555 SPECC1L-ADORA2A DDTL RGL4 CABIN1 MIF-AS1 GSTT2 CHCHD10 DDT SPECC1L MIF ADORA2A-AS1 ZNF70 GUSBP11 CES5AP1 GUCD1 GSTT2B GSTTP1 POM121L9P MMP11 SMARCB1 ADORA2A LOC388882 UPB1 DERL3 C22orf15 LOC100652871 SLC2A11
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	GGT5 SNRPD3 LRRC75B BCRP3 SPECC1L SUSD2 ADORA2A-AS1 GGT1 GUCD1 GSTTP1 POM121L9P SPECC1L-ADORA2A ADORA2A UPB1 CABIN1
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	GGT5 SNRPD3 LRRC75B SPECC1L SUSD2 ADORA2A-AS1 GGT1 GUCD1 POM121L9P SPECC1L-ADORA2A ADORA2A UPB1 CABIN1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	GGT5 SNRPD3 VPREB3 LRRC75B SUSD2 PCAT14 IGLL1 LOC101929374 LOC107985559 ZDHHC8P1 GGT1 DRICH1 LOC107985555 SPECC1L-ADORA2A DDTL POM121L10P RGL4 CABIN1 MIF-AS1 GSTT2 CHCHD10 DDT BCRP3 SPECC1L MIF ADORA2A-AS1 ZNF70 GUSBP11 CES5AP1 GUCD1 GSTT2B GSTTP1 POM121L9P MMP11 SMARCB1 ADORA2A LOC388882 UPB1 DERL3 C22orf15 LOC100652871 SLC2A11
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SNRPD3 SPECC1L-ADORA2A LRRC75B SPECC1L ADORA2A-AS1 ADORA2A GGT1 UPB1 GUCD1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	GGT5 SNRPD3 VPREB3 LRRC75B SUSD2 PCAT14 IGLL1 LOC101929374 LOC107985559 ZDHHC8P1 GGT1 DRICH1 LOC107985555 SPECC1L-ADORA2A DDTL POM121L10P RGL4 CABIN1 MIF-AS1 GSTT2 CHCHD10 DDT BCRP3 SPECC1L MIF ADORA2A-AS1 ZNF70 GUSBP11 CES5AP1 GUCD1 GSTT2B GSTTP1 POM121L9P MMP11 SMARCB1 ADORA2A LOC388882 UPB1 DERL3 C22orf15 LOC100652871 SLC2A11
nsv834158	Chr.22:24126288 - 24293870 on Build GRCh38	Gain	GGT5 POM121L9P SPECC1L-ADORA2A SPECC1L SUSD2 CABIN1

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division