Hs01459107_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24302215 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: Overlaps Intron 2 - Exon 3

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: Overlaps Intron 2 - Exon 3

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
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	BCRP3 SPECC1L SPECC1L-ADORA2A GUCD1 UPB1 LRRC75B POM121L10P ADORA2A-AS1 ADORA2A SNRPD3 GGT1
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A RGL4 DRICH1 LOC100652871 MIF-AS1 SNRPD3 C22orf15 GSTTP1 IGLL1 ADORA2A-AS1 SUSD2 DDTL PCAT14 CABIN1 GUSBP11 GUCD1 GSTT2 LRRC75B SMARCB1 DERL3 MIF ZDHHC8P1 MMP11 GSTT2B CES5AP1 LOC388882 LOC101929374 SLC2A11 UPB1 VPREB3 ZNF70 GGT5 DDT ADORA2A CHCHD10 LOC107985555 POM121L9P GGT1 LOC107985559
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A GUCD1 UPB1 LRRC75B ADORA2A-AS1 ADORA2A SNRPD3 GGT1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A RGL4 DRICH1 LOC100652871 MIF-AS1 SNRPD3 C22orf15 GSTTP1 IGLL1 ADORA2A-AS1 SUSD2 DDTL PCAT14 CABIN1 GUSBP11 GUCD1 GSTT2 LRRC75B SMARCB1 DERL3 MIF ZDHHC8P1 MMP11 GSTT2B CES5AP1 LOC388882 LOC101929374 SLC2A11 UPB1 VPREB3 ZNF70 GGT5 DDT ADORA2A CHCHD10 LOC107985555 POM121L9P GGT1 LOC107985559
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	BCRP3 SPECC1L SPECC1L-ADORA2A RGL4 DRICH1 LOC100652871 MIF-AS1 SNRPD3 C22orf15 GSTTP1 POM121L10P IGLL1 ADORA2A-AS1 SUSD2 DDTL PCAT14 CABIN1 BCR GUSBP11 GUCD1 GSTT2 LRRC75B SMARCB1 DERL3 MIF ZDHHC8P1 MMP11 GSTT2B CES5AP1 LOC388882 LOC101929374 SLC2A11 UPB1 VPREB3 ZNF70 GGT5 DDT ADORA2A CHCHD10 LOC107985555 POM121L9P GGT1 LOC107985559
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	BCRP3 SPECC1L SPECC1L-ADORA2A GUCD1 LRRC75B SNRPD3 GSTTP1 UPB1 GGT5 ADORA2A-AS1 SUSD2 ADORA2A POM121L9P CABIN1 GGT1
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A GUCD1 LRRC75B SNRPD3 UPB1 GGT5 ADORA2A-AS1 SUSD2 ADORA2A POM121L9P CABIN1 GGT1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	BCRP3 SPECC1L SPECC1L-ADORA2A RGL4 DRICH1 LOC100652871 MIF-AS1 SNRPD3 C22orf15 GSTTP1 POM121L10P IGLL1 ADORA2A-AS1 SUSD2 DDTL PCAT14 CABIN1 GUSBP11 GUCD1 GSTT2 LRRC75B SMARCB1 DERL3 MIF ZDHHC8P1 MMP11 GSTT2B CES5AP1 LOC388882 LOC101929374 SLC2A11 UPB1 VPREB3 ZNF70 GGT5 DDT ADORA2A CHCHD10 LOC107985555 POM121L9P GGT1 LOC107985559
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A GUCD1 UPB1 LRRC75B ADORA2A-AS1 ADORA2A SNRPD3 GGT1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	BCRP3 SPECC1L SPECC1L-ADORA2A RGL4 DRICH1 LOC100652871 MIF-AS1 SNRPD3 C22orf15 GSTTP1 POM121L10P IGLL1 ADORA2A-AS1 SUSD2 DDTL PCAT14 CABIN1 GUSBP11 GUCD1 GSTT2 LRRC75B SMARCB1 DERL3 MIF ZDHHC8P1 MMP11 GSTT2B CES5AP1 LOC388882 LOC101929374 SLC2A11 UPB1 VPREB3 ZNF70 GGT5 DDT ADORA2A CHCHD10 LOC107985555 POM121L9P GGT1 LOC107985559

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division