Hs04504746_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24274624 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 1

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
	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 1

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	SPECC1L GGT5 LOC107985559 CES5AP1 SMARCB1 ADORA2A-AS1 LOC107985555 RGL4 MMP11 VPREB3 DDTL IGLL1 SNRPD3 ADORA2A ZDHHC8P1 CHCHD10 UPB1 LOC101929374 CABIN1 GSTT2 GSTTP1 GUSBP11 GSTT2B C22orf15 PCAT14 GGT1 POM121L9P LRRC75B DDT SLC2A11 SPECC1L-ADORA2A LOC388882 GUCD1 LOC100652871 DERL3 DRICH1 MIF MIF-AS1 SUSD2 ZNF70
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SPECC1L GGT5 POM121L10P LOC107985559 CES5AP1 SMARCB1 ADORA2A-AS1 LOC107985555 RGL4 MMP11 VPREB3 DDTL IGLL1 SNRPD3 ADORA2A ZDHHC8P1 CHCHD10 UPB1 LOC101929374 CABIN1 GSTT2 BCR GSTTP1 GUSBP11 GSTT2B C22orf15 PCAT14 GGT1 POM121L9P LRRC75B DDT SLC2A11 SPECC1L-ADORA2A LOC388882 GUCD1 LOC100652871 DERL3 DRICH1 BCRP3 MIF MIF-AS1 SUSD2 ZNF70
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SPECC1L GGT5 LOC107985559 CES5AP1 SMARCB1 ADORA2A-AS1 LOC107985555 RGL4 MMP11 VPREB3 DDTL IGLL1 SNRPD3 ADORA2A ZDHHC8P1 CHCHD10 UPB1 LOC101929374 CABIN1 GSTT2 GSTTP1 GUSBP11 GSTT2B C22orf15 PCAT14 GGT1 POM121L9P LRRC75B DDT SLC2A11 SPECC1L-ADORA2A LOC388882 GUCD1 LOC100652871 DERL3 DRICH1 MIF MIF-AS1 SUSD2 ZNF70
esv24290	Chr.22:24237723 - 24279105 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A GGT5 POM121L9P
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	SPECC1L UPB1 GGT5 CABIN1 GSTTP1 ADORA2A-AS1 GGT1 POM121L9P LRRC75B SPECC1L-ADORA2A SNRPD3 GUCD1 ADORA2A BCRP3 SUSD2
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	SPECC1L UPB1 GGT5 CABIN1 ADORA2A-AS1 GGT1 POM121L9P LRRC75B SPECC1L-ADORA2A SNRPD3 GUCD1 ADORA2A SUSD2
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SPECC1L GGT5 POM121L10P LOC107985559 CES5AP1 SMARCB1 ADORA2A-AS1 LOC107985555 RGL4 MMP11 VPREB3 DDTL IGLL1 SNRPD3 ADORA2A ZDHHC8P1 CHCHD10 UPB1 LOC101929374 CABIN1 GSTT2 GSTTP1 GUSBP11 GSTT2B C22orf15 PCAT14 GGT1 POM121L9P LRRC75B DDT SLC2A11 SPECC1L-ADORA2A LOC388882 GUCD1 LOC100652871 DERL3 DRICH1 BCRP3 MIF MIF-AS1 SUSD2 ZNF70
nsv9883	Chr.22:24273518 - 24279904 on Build GRCh38	Gain+Loss	SPECC1L SPECC1L-ADORA2A
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SPECC1L GGT5 POM121L10P LOC107985559 CES5AP1 SMARCB1 ADORA2A-AS1 LOC107985555 RGL4 MMP11 VPREB3 DDTL IGLL1 SNRPD3 ADORA2A ZDHHC8P1 CHCHD10 UPB1 LOC101929374 CABIN1 GSTT2 GSTTP1 GUSBP11 GSTT2B C22orf15 PCAT14 GGT1 POM121L9P LRRC75B DDT SLC2A11 SPECC1L-ADORA2A LOC388882 GUCD1 LOC100652871 DERL3 DRICH1 BCRP3 MIF MIF-AS1 SUSD2 ZNF70
nsv979658	Chr.22:24272733 - 24281093 on Build GRCh38	Duplication	SPECC1L SPECC1L-ADORA2A
nsv834158	Chr.22:24126288 - 24293870 on Build GRCh38	Gain	SPECC1L SPECC1L-ADORA2A GGT5 CABIN1 SUSD2 POM121L9P

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division