Hs04089049_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24299627 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	DRICH1 RGL4 DDT ZDHHC8P1 GUSBP11 SLC2A11 LRRC75B CABIN1 PCAT14 SUSD2 LOC100652871 C22orf15 GUCD1 GGT1 SMARCB1 LOC107985555 GGT5 SNRPD3 ZNF70 LOC101929374 POM121L9P GSTTP1 MIF LOC107985559 DDTL UPB1 CHCHD10 IGLL1 GSTT2 SPECC1L-ADORA2A MMP11 SPECC1L LOC388882 VPREB3 CES5AP1 DERL3 ADORA2A GSTT2B ADORA2A-AS1 MIF-AS1
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	SPECC1L GGT1 UPB1 SNRPD3 POM121L10P ADORA2A LRRC75B BCRP3 ADORA2A-AS1 SPECC1L-ADORA2A GUCD1
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	SPECC1L GGT1 UPB1 SNRPD3 ADORA2A LRRC75B ADORA2A-AS1 SPECC1L-ADORA2A GUCD1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	DRICH1 RGL4 DDT ZDHHC8P1 GUSBP11 SLC2A11 LRRC75B CABIN1 PCAT14 SUSD2 LOC100652871 C22orf15 GUCD1 GGT1 SMARCB1 LOC107985555 GGT5 SNRPD3 POM121L10P ZNF70 BCRP3 LOC101929374 POM121L9P GSTTP1 MIF LOC107985559 DDTL UPB1 CHCHD10 IGLL1 GSTT2 SPECC1L-ADORA2A BCR MMP11 SPECC1L LOC388882 VPREB3 CES5AP1 DERL3 ADORA2A GSTT2B ADORA2A-AS1 MIF-AS1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	DRICH1 RGL4 DDT ZDHHC8P1 GUSBP11 SLC2A11 LRRC75B CABIN1 PCAT14 SUSD2 LOC100652871 C22orf15 GUCD1 GGT1 SMARCB1 LOC107985555 GGT5 SNRPD3 ZNF70 LOC101929374 POM121L9P GSTTP1 MIF LOC107985559 DDTL UPB1 CHCHD10 IGLL1 GSTT2 SPECC1L-ADORA2A MMP11 SPECC1L LOC388882 VPREB3 CES5AP1 DERL3 ADORA2A GSTT2B ADORA2A-AS1 MIF-AS1
nsv964610	Chr.22:24294204 - 24299584 on Build GRCh38	Duplication	SPECC1L SPECC1L-ADORA2A
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	UPB1 LRRC75B CABIN1 SUSD2 SPECC1L-ADORA2A GUCD1 SPECC1L GGT1 GGT5 SNRPD3 ADORA2A BCRP3 POM121L9P ADORA2A-AS1 GSTTP1
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	UPB1 LRRC75B CABIN1 SUSD2 SPECC1L-ADORA2A GUCD1 SPECC1L GGT1 GGT5 SNRPD3 ADORA2A POM121L9P ADORA2A-AS1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	DRICH1 RGL4 DDT ZDHHC8P1 GUSBP11 SLC2A11 LRRC75B CABIN1 PCAT14 SUSD2 LOC100652871 C22orf15 GUCD1 GGT1 SMARCB1 LOC107985555 GGT5 SNRPD3 POM121L10P ZNF70 BCRP3 LOC101929374 POM121L9P GSTTP1 MIF LOC107985559 DDTL UPB1 CHCHD10 IGLL1 GSTT2 SPECC1L-ADORA2A MMP11 SPECC1L LOC388882 VPREB3 CES5AP1 DERL3 ADORA2A GSTT2B ADORA2A-AS1 MIF-AS1
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SPECC1L GGT1 UPB1 SNRPD3 ADORA2A LRRC75B ADORA2A-AS1 SPECC1L-ADORA2A GUCD1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	DRICH1 RGL4 DDT ZDHHC8P1 GUSBP11 SLC2A11 LRRC75B CABIN1 PCAT14 SUSD2 LOC100652871 C22orf15 GUCD1 GGT1 SMARCB1 LOC107985555 GGT5 SNRPD3 POM121L10P ZNF70 BCRP3 LOC101929374 POM121L9P GSTTP1 MIF LOC107985559 DDTL UPB1 CHCHD10 IGLL1 GSTT2 SPECC1L-ADORA2A MMP11 SPECC1L LOC388882 VPREB3 CES5AP1 DERL3 ADORA2A GSTT2B ADORA2A-AS1 MIF-AS1

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division