Hs04079370_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24315175 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
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	GUCD1 ADORA2A-AS1 LRRC75B UPB1 POM121L10P ADORA2A GGT1 SNRPD3 BCRP3 SPECC1L-ADORA2A SPECC1L
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	C22orf15 UPB1 MIF ZDHHC8P1 DRICH1 ADORA2A GSTTP1 IGLL1 SPECC1L CHCHD10 MIF-AS1 SUSD2 ADORA2A-AS1 CES5AP1 GGT5 SPECC1L-ADORA2A SLC2A11 GSTT2B GUCD1 SMARCB1 GUSBP11 LOC388882 GGT1 DDTL MMP11 RGL4 DDT LOC101929374 LOC107985555 VPREB3 LRRC75B LOC100652871 POM121L9P CABIN1 DERL3 SNRPD3 PCAT14 ZNF70 GSTT2 LOC107985559
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	GUCD1 ADORA2A-AS1 LRRC75B UPB1 ADORA2A GGT1 SNRPD3 SPECC1L-ADORA2A SPECC1L
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	C22orf15 UPB1 MIF ZDHHC8P1 DRICH1 ADORA2A GSTTP1 IGLL1 SPECC1L CHCHD10 MIF-AS1 SUSD2 ADORA2A-AS1 CES5AP1 GGT5 SPECC1L-ADORA2A SLC2A11 GSTT2B GUCD1 SMARCB1 GUSBP11 LOC388882 GGT1 DDTL MMP11 RGL4 DDT LOC101929374 LOC107985555 VPREB3 LRRC75B LOC100652871 POM121L9P CABIN1 DERL3 SNRPD3 PCAT14 ZNF70 GSTT2 LOC107985559
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	C22orf15 UPB1 POM121L10P MIF ZDHHC8P1 DRICH1 ADORA2A GSTTP1 IGLL1 SPECC1L CHCHD10 MIF-AS1 SUSD2 ADORA2A-AS1 CES5AP1 GGT5 SPECC1L-ADORA2A SLC2A11 GSTT2B GUCD1 SMARCB1 GUSBP11 LOC388882 GGT1 DDTL MMP11 RGL4 BCRP3 DDT LOC101929374 LOC107985555 VPREB3 LRRC75B LOC100652871 POM121L9P BCR CABIN1 DERL3 SNRPD3 PCAT14 ZNF70 GSTT2 LOC107985559
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	GUCD1 UPB1 ADORA2A GSTTP1 GGT1 BCRP3 SPECC1L SUSD2 ADORA2A-AS1 LRRC75B POM121L9P GGT5 CABIN1 SNRPD3 SPECC1L-ADORA2A
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	GUCD1 UPB1 ADORA2A GGT1 SPECC1L SUSD2 ADORA2A-AS1 LRRC75B POM121L9P GGT5 CABIN1 SNRPD3 SPECC1L-ADORA2A
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	C22orf15 UPB1 POM121L10P MIF ZDHHC8P1 DRICH1 ADORA2A GSTTP1 IGLL1 SPECC1L CHCHD10 MIF-AS1 SUSD2 ADORA2A-AS1 CES5AP1 GGT5 SPECC1L-ADORA2A SLC2A11 GSTT2B GUCD1 SMARCB1 GUSBP11 LOC388882 GGT1 DDTL MMP11 RGL4 BCRP3 DDT LOC101929374 LOC107985555 VPREB3 LRRC75B LOC100652871 POM121L9P CABIN1 DERL3 SNRPD3 PCAT14 ZNF70 GSTT2 LOC107985559
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	GUCD1 ADORA2A-AS1 LRRC75B UPB1 ADORA2A GGT1 SNRPD3 SPECC1L-ADORA2A SPECC1L
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	C22orf15 UPB1 POM121L10P MIF ZDHHC8P1 DRICH1 ADORA2A GSTTP1 IGLL1 SPECC1L CHCHD10 MIF-AS1 SUSD2 ADORA2A-AS1 CES5AP1 GGT5 SPECC1L-ADORA2A SLC2A11 GSTT2B GUCD1 SMARCB1 GUSBP11 LOC388882 GGT1 DDTL MMP11 RGL4 BCRP3 DDT LOC101929374 LOC107985555 VPREB3 LRRC75B LOC100652871 POM121L9P CABIN1 DERL3 SNRPD3 PCAT14 ZNF70 GSTT2 LOC107985559

More Information

Additional Information:

For this assay, SNP(s) [rs369651248] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division