Hs04503805_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24311419 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 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

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

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division