Hs00313918_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24321994 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPECC1L	NM_001145468.3	4	1218	NP_001138940.3
	NM_001254732.2	4	1218	NP_001241661.2
	NM_015330.4	5	1322	NP_056145.4
	AB002374.1	1	546	BAA21574.1
	AK097129.1	4	1206
	AK301482.1	4	1153
	AL832425.1	5	1241	CAH10609.1
	AY884293.1	4	1146	AAX84184.1
	BC136471.1	4	1088

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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPECC1L-ADORA2A	NR_103546.1	5	1322
	AB209022.1	5	1241	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	GSTT2B DDT SLC2A11 CES5AP1 DDTL MMP11 C22orf15 ZNF70 PCAT14 GGT1 ADORA2A-AS1 CHCHD10 IGLL1 LOC388882 SNRPD3 POM121L9P MIF ADORA2A SPECC1L-ADORA2A GGT5 CABIN1 LRRC75B GUSBP11 VPREB3 SUSD2 SPECC1L LOC101929374 GSTT2 MIF-AS1 DERL3 DRICH1 UPB1 LOC100652871 ZDHHC8P1 LOC107985559 SMARCB1 RGL4 GSTTP1 GUCD1 LOC107985555
esv2724068	Chr.22:24288741 - 24669870 on Build GRCh38	Deletion	LRRC75B ADORA2A-AS1 UPB1 SPECC1L SNRPD3 BCRP3 GUCD1 POM121L10P GGT1 ADORA2A SPECC1L-ADORA2A
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	LRRC75B ADORA2A-AS1 UPB1 SPECC1L SNRPD3 GUCD1 GGT1 ADORA2A SPECC1L-ADORA2A
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	GSTT2B DDT SLC2A11 CES5AP1 DDTL MMP11 BCRP3 C22orf15 ZNF70 PCAT14 GGT1 ADORA2A-AS1 BCR CHCHD10 IGLL1 LOC388882 SNRPD3 POM121L9P MIF ADORA2A SPECC1L-ADORA2A GGT5 CABIN1 LRRC75B GUSBP11 VPREB3 SUSD2 SPECC1L LOC101929374 GSTT2 POM121L10P MIF-AS1 DERL3 DRICH1 UPB1 LOC100652871 ZDHHC8P1 LOC107985559 SMARCB1 RGL4 GSTTP1 GUCD1 LOC107985555
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	GSTT2B DDT SLC2A11 CES5AP1 DDTL MMP11 C22orf15 ZNF70 PCAT14 GGT1 ADORA2A-AS1 CHCHD10 IGLL1 LOC388882 SNRPD3 POM121L9P MIF ADORA2A SPECC1L-ADORA2A GGT5 CABIN1 LRRC75B GUSBP11 VPREB3 SUSD2 SPECC1L LOC101929374 GSTT2 MIF-AS1 DERL3 DRICH1 UPB1 LOC100652871 ZDHHC8P1 LOC107985559 SMARCB1 RGL4 GSTTP1 GUCD1 LOC107985555
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	GGT5 CABIN1 LRRC75B SUSD2 SPECC1L BCRP3 GGT1 ADORA2A-AS1 UPB1 SNRPD3 POM121L9P GSTTP1 GUCD1 ADORA2A SPECC1L-ADORA2A
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	GGT5 CABIN1 LRRC75B SUSD2 SPECC1L GGT1 ADORA2A-AS1 UPB1 SNRPD3 POM121L9P GUCD1 ADORA2A SPECC1L-ADORA2A
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	GSTT2B DDT SLC2A11 CES5AP1 DDTL MMP11 BCRP3 C22orf15 ZNF70 PCAT14 GGT1 ADORA2A-AS1 CHCHD10 IGLL1 LOC388882 SNRPD3 POM121L9P MIF ADORA2A SPECC1L-ADORA2A GGT5 CABIN1 LRRC75B GUSBP11 VPREB3 SUSD2 SPECC1L LOC101929374 GSTT2 POM121L10P MIF-AS1 DERL3 DRICH1 UPB1 LOC100652871 ZDHHC8P1 LOC107985559 SMARCB1 RGL4 GSTTP1 GUCD1 LOC107985555
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	LRRC75B ADORA2A-AS1 UPB1 SPECC1L SNRPD3 GUCD1 GGT1 ADORA2A SPECC1L-ADORA2A
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	GSTT2B DDT SLC2A11 CES5AP1 DDTL MMP11 BCRP3 C22orf15 ZNF70 PCAT14 GGT1 ADORA2A-AS1 CHCHD10 IGLL1 LOC388882 SNRPD3 POM121L9P MIF ADORA2A SPECC1L-ADORA2A GGT5 CABIN1 LRRC75B GUSBP11 VPREB3 SUSD2 SPECC1L LOC101929374 GSTT2 POM121L10P MIF-AS1 DERL3 DRICH1 UPB1 LOC100652871 ZDHHC8P1 LOC107985559 SMARCB1 RGL4 GSTTP1 GUCD1 LOC107985555

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division