Hs04506390_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24320386 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 4

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 4

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

More Information

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division