Hs04077889_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24271296 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	SLC2A11 MIF-AS1 DRICH1 DDT DDTL GSTT2B SPECC1L ZNF70 GGT5 IGLL1 POM121L9P MIF ADORA2A PCAT14 LOC388882 GSTT2 ZDHHC8P1 CHCHD10 GUCD1 GGT1 SUSD2 LOC100652871 CES5AP1 DERL3 CABIN1 UPB1 GUSBP11 VPREB3 MMP11 SPECC1L-ADORA2A GSTTP1 ADORA2A-AS1 RGL4 LOC107985559 LOC101929374 LOC107985555 C22orf15 SNRPD3 SMARCB1 LRRC75B
esv24290	Chr.22:24237723 - 24279105 on Build GRCh38	Gain	SPECC1L-ADORA2A SPECC1L GGT5 POM121L9P
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SLC2A11 MIF-AS1 DRICH1 DDT DDTL GSTT2B SPECC1L ZNF70 GGT5 IGLL1 POM121L9P MIF ADORA2A PCAT14 LOC388882 GSTT2 ZDHHC8P1 CHCHD10 GUCD1 GGT1 SUSD2 LOC100652871 CES5AP1 DERL3 CABIN1 UPB1 GUSBP11 VPREB3 MMP11 SPECC1L-ADORA2A GSTTP1 ADORA2A-AS1 RGL4 LOC107985559 LOC101929374 LOC107985555 C22orf15 SNRPD3 SMARCB1 LRRC75B
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SLC2A11 MIF-AS1 DRICH1 DDT DDTL GSTT2B SPECC1L ZNF70 GGT5 IGLL1 POM121L9P MIF ADORA2A PCAT14 LOC388882 GSTT2 ZDHHC8P1 CHCHD10 GUCD1 GGT1 SUSD2 LOC100652871 CES5AP1 DERL3 CABIN1 UPB1 GUSBP11 VPREB3 MMP11 POM121L10P SPECC1L-ADORA2A GSTTP1 ADORA2A-AS1 RGL4 LOC107985559 LOC101929374 LOC107985555 BCRP3 C22orf15 BCR SNRPD3 SMARCB1 LRRC75B
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	CABIN1 UPB1 SPECC1L-ADORA2A GSTTP1 SPECC1L GGT5 ADORA2A-AS1 POM121L9P BCRP3 ADORA2A GUCD1 GGT1 SUSD2 SNRPD3 LRRC75B
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	CABIN1 UPB1 SPECC1L-ADORA2A SPECC1L GGT5 ADORA2A-AS1 POM121L9P ADORA2A GUCD1 GGT1 SUSD2 SNRPD3 LRRC75B
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SLC2A11 MIF-AS1 DRICH1 DDT DDTL GSTT2B SPECC1L ZNF70 GGT5 IGLL1 POM121L9P MIF ADORA2A PCAT14 LOC388882 GSTT2 ZDHHC8P1 CHCHD10 GUCD1 GGT1 SUSD2 LOC100652871 CES5AP1 DERL3 CABIN1 UPB1 GUSBP11 VPREB3 MMP11 POM121L10P SPECC1L-ADORA2A GSTTP1 ADORA2A-AS1 RGL4 LOC107985559 LOC101929374 LOC107985555 BCRP3 C22orf15 SNRPD3 SMARCB1 LRRC75B
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SLC2A11 MIF-AS1 DRICH1 DDT DDTL GSTT2B SPECC1L ZNF70 GGT5 IGLL1 POM121L9P MIF ADORA2A PCAT14 LOC388882 GSTT2 ZDHHC8P1 CHCHD10 GUCD1 GGT1 SUSD2 LOC100652871 CES5AP1 DERL3 CABIN1 UPB1 GUSBP11 VPREB3 MMP11 POM121L10P SPECC1L-ADORA2A GSTTP1 ADORA2A-AS1 RGL4 LOC107985559 LOC101929374 LOC107985555 BCRP3 C22orf15 SNRPD3 SMARCB1 LRRC75B
nsv966093	Chr.22:24249692 - 24271578 on Build GRCh38	Duplication	SPECC1L-ADORA2A SPECC1L POM121L9P
nsv834158	Chr.22:24126288 - 24293870 on Build GRCh38	Gain	CABIN1 SPECC1L-ADORA2A SPECC1L GGT5 SUSD2 POM121L9P

More Information

Additional Information:

For this assay, SNP(s) [rs117335431] 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