Hs04085739_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24291480 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	ZDHHC8P1 LOC107985555 SNRPD3 LOC101929374 POM121L9P CABIN1 GSTT2 LOC107985559 MIF-AS1 ADORA2A SMARCB1 SLC2A11 LRRC75B DRICH1 VPREB3 MMP11 LOC388882 DERL3 C22orf15 CES5AP1 LOC100652871 SPECC1L-ADORA2A CHCHD10 GGT5 RGL4 SUSD2 GUCD1 ZNF70 GSTTP1 GUSBP11 IGLL1 SPECC1L PCAT14 DDT ADORA2A-AS1 GSTT2B MIF DDTL UPB1 GGT1
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A POM121L10P UPB1 BCRP3 LRRC75B SNRPD3 GUCD1 GGT1
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A UPB1 LRRC75B SNRPD3 GUCD1 GGT1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	ZDHHC8P1 LOC107985555 SNRPD3 LOC101929374 POM121L9P CABIN1 GSTT2 LOC107985559 BCR MIF-AS1 ADORA2A SMARCB1 SLC2A11 LRRC75B DRICH1 VPREB3 MMP11 LOC388882 DERL3 C22orf15 CES5AP1 LOC100652871 SPECC1L-ADORA2A CHCHD10 GGT5 RGL4 SUSD2 BCRP3 GUCD1 ZNF70 GSTTP1 GUSBP11 IGLL1 SPECC1L PCAT14 DDT ADORA2A-AS1 GSTT2B POM121L10P MIF DDTL UPB1 GGT1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	ZDHHC8P1 LOC107985555 SNRPD3 LOC101929374 POM121L9P CABIN1 GSTT2 LOC107985559 MIF-AS1 ADORA2A SMARCB1 SLC2A11 LRRC75B DRICH1 VPREB3 MMP11 LOC388882 DERL3 C22orf15 CES5AP1 LOC100652871 SPECC1L-ADORA2A CHCHD10 GGT5 RGL4 SUSD2 GUCD1 ZNF70 GSTTP1 GUSBP11 IGLL1 SPECC1L PCAT14 DDT ADORA2A-AS1 GSTT2B MIF DDTL UPB1 GGT1
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	SPECC1L-ADORA2A GGT5 SUSD2 BCRP3 SNRPD3 GUCD1 POM121L9P CABIN1 GSTTP1 SPECC1L ADORA2A-AS1 ADORA2A UPB1 LRRC75B GGT1
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L-ADORA2A GGT5 SUSD2 SNRPD3 GUCD1 POM121L9P CABIN1 SPECC1L ADORA2A-AS1 ADORA2A UPB1 LRRC75B GGT1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	ZDHHC8P1 LOC107985555 SNRPD3 LOC101929374 POM121L9P CABIN1 GSTT2 LOC107985559 MIF-AS1 ADORA2A SMARCB1 SLC2A11 LRRC75B DRICH1 VPREB3 MMP11 LOC388882 DERL3 C22orf15 CES5AP1 LOC100652871 SPECC1L-ADORA2A CHCHD10 GGT5 RGL4 SUSD2 BCRP3 GUCD1 ZNF70 GSTTP1 GUSBP11 IGLL1 SPECC1L PCAT14 DDT ADORA2A-AS1 GSTT2B POM121L10P MIF DDTL UPB1 GGT1
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SPECC1L ADORA2A-AS1 ADORA2A SPECC1L-ADORA2A UPB1 LRRC75B SNRPD3 GUCD1 GGT1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	ZDHHC8P1 LOC107985555 SNRPD3 LOC101929374 POM121L9P CABIN1 GSTT2 LOC107985559 MIF-AS1 ADORA2A SMARCB1 SLC2A11 LRRC75B DRICH1 VPREB3 MMP11 LOC388882 DERL3 C22orf15 CES5AP1 LOC100652871 SPECC1L-ADORA2A CHCHD10 GGT5 RGL4 SUSD2 BCRP3 GUCD1 ZNF70 GSTTP1 GUSBP11 IGLL1 SPECC1L PCAT14 DDT ADORA2A-AS1 GSTT2B POM121L10P MIF DDTL UPB1 GGT1
nsv834158	Chr.22:24126288 - 24293870 on Build GRCh38	Gain	CABIN1 SPECC1L SPECC1L-ADORA2A GGT5 SUSD2 POM121L9P

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division