Hs02947917_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24321871 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	1095	NP_001138940.3
	NM_001254732.2	4	1095	NP_001241661.2
	NM_015330.4	5	1199	NP_056145.4
	AB002374.1	1	423	BAA21574.1
	AK097129.1	4	1083
	AK301482.1	4	1030
	AL832425.1	5	1118	CAH10609.1
	AY884293.1	4	1023	AAX84184.1
	BC136471.1	4	965

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	1199
	AB209022.1	5	1118	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	SPECC1L-ADORA2A BCRP3 ADORA2A LRRC75B ADORA2A-AS1 SPECC1L GGT1 POM121L10P SNRPD3 UPB1 GUCD1
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	RGL4 LOC388882 ZNF70 MIF MMP11 SLC2A11 VPREB3 CABIN1 DERL3 SUSD2 LOC107985559 GSTT2 LOC100652871 SPECC1L IGLL1 LOC107985555 GUSBP11 CES5AP1 ZDHHC8P1 SNRPD3 GGT5 SMARCB1 LRRC75B ADORA2A-AS1 GSTT2B POM121L9P GSTTP1 C22orf15 CHCHD10 SPECC1L-ADORA2A ADORA2A DDTL DRICH1 GGT1 MIF-AS1 PCAT14 UPB1 DDT GUCD1 LOC101929374
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	SPECC1L-ADORA2A ADORA2A LRRC75B ADORA2A-AS1 SPECC1L GGT1 SNRPD3 UPB1 GUCD1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	RGL4 LOC388882 ZNF70 MIF MMP11 SLC2A11 VPREB3 CABIN1 DERL3 SUSD2 LOC107985559 GSTT2 LOC100652871 SPECC1L IGLL1 LOC107985555 GUSBP11 CES5AP1 ZDHHC8P1 SNRPD3 GGT5 SMARCB1 LRRC75B ADORA2A-AS1 GSTT2B POM121L9P GSTTP1 C22orf15 CHCHD10 SPECC1L-ADORA2A ADORA2A DDTL DRICH1 GGT1 MIF-AS1 PCAT14 UPB1 DDT GUCD1 LOC101929374
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	RGL4 LOC388882 ZNF70 MIF MMP11 SLC2A11 VPREB3 CABIN1 DERL3 SUSD2 LOC107985559 GSTT2 LOC100652871 SPECC1L IGLL1 LOC107985555 GUSBP11 CES5AP1 ZDHHC8P1 SNRPD3 GGT5 BCRP3 SMARCB1 LRRC75B ADORA2A-AS1 GSTT2B POM121L9P GSTTP1 POM121L10P C22orf15 CHCHD10 SPECC1L-ADORA2A ADORA2A DDTL DRICH1 GGT1 MIF-AS1 PCAT14 UPB1 BCR DDT GUCD1 LOC101929374
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	BCRP3 LRRC75B ADORA2A-AS1 POM121L9P GSTTP1 CABIN1 SUSD2 SPECC1L-ADORA2A ADORA2A SPECC1L GGT1 SNRPD3 UPB1 GUCD1 GGT5
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	LRRC75B ADORA2A-AS1 POM121L9P CABIN1 SUSD2 SPECC1L-ADORA2A ADORA2A SPECC1L GGT1 SNRPD3 UPB1 GUCD1 GGT5
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	RGL4 LOC388882 ZNF70 MIF MMP11 SLC2A11 VPREB3 CABIN1 DERL3 SUSD2 LOC107985559 GSTT2 LOC100652871 SPECC1L IGLL1 LOC107985555 GUSBP11 CES5AP1 ZDHHC8P1 SNRPD3 GGT5 BCRP3 SMARCB1 LRRC75B ADORA2A-AS1 GSTT2B POM121L9P GSTTP1 POM121L10P C22orf15 CHCHD10 SPECC1L-ADORA2A ADORA2A DDTL DRICH1 GGT1 MIF-AS1 PCAT14 UPB1 DDT GUCD1 LOC101929374
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	SPECC1L-ADORA2A ADORA2A LRRC75B ADORA2A-AS1 SPECC1L GGT1 SNRPD3 UPB1 GUCD1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	RGL4 LOC388882 ZNF70 MIF MMP11 SLC2A11 VPREB3 CABIN1 DERL3 SUSD2 LOC107985559 GSTT2 LOC100652871 SPECC1L IGLL1 LOC107985555 GUSBP11 CES5AP1 ZDHHC8P1 SNRPD3 GGT5 BCRP3 SMARCB1 LRRC75B ADORA2A-AS1 GSTT2B POM121L9P GSTTP1 POM121L10P C22orf15 CHCHD10 SPECC1L-ADORA2A ADORA2A DDTL DRICH1 GGT1 MIF-AS1 PCAT14 UPB1 DDT GUCD1 LOC101929374

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division