Hs00344821_cn

• Gene Symbol: SPECC1L
• Assay Reference Genome Location: Chr.22:24322815 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	2039	NP_001138940.3
	NM_001254732.2	4	2039	NP_001241661.2
	NM_015330.4	5	2143	NP_056145.4
	AB002374.1	1	1367	BAA21574.1
	AK025531.1	1	447
	AK097129.1	4	2027
	AK301482.1	4	1974
	AL832425.1	5	2062	CAH10609.1
	AY884293.1	4	1967	AAX84184.1
	BC136471.1	4	1909

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	2143
	AB209022.1	5	2062	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 POM121L10P ADORA2A ADORA2A-AS1 SPECC1L-ADORA2A SNRPD3 BCRP3 LRRC75B GGT1 UPB1 SPECC1L
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	GSTTP1 LOC100652871 CABIN1 CHCHD10 SPECC1L-ADORA2A DDTL DERL3 GSTT2 SLC2A11 MIF UPB1 POM121L9P ZDHHC8P1 LOC101929374 SUSD2 GGT5 GUCD1 DDT MIF-AS1 SNRPD3 IGLL1 VPREB3 DRICH1 LOC107985555 SMARCB1 LOC107985559 GUSBP11 CES5AP1 GSTT2B ZNF70 ADORA2A ADORA2A-AS1 C22orf15 RGL4 LOC388882 MMP11 LRRC75B PCAT14 GGT1 SPECC1L
nsv1057819	Chr.22:24290518 - 24624081 on Build GRCh38	Gain	GUCD1 ADORA2A ADORA2A-AS1 SPECC1L-ADORA2A SNRPD3 LRRC75B GGT1 UPB1 SPECC1L
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	GSTTP1 LOC100652871 CABIN1 CHCHD10 SPECC1L-ADORA2A DDTL DERL3 GSTT2 SLC2A11 MIF UPB1 POM121L9P ZDHHC8P1 LOC101929374 SUSD2 GGT5 GUCD1 DDT MIF-AS1 SNRPD3 IGLL1 VPREB3 DRICH1 LOC107985555 SMARCB1 LOC107985559 GUSBP11 CES5AP1 GSTT2B ZNF70 ADORA2A ADORA2A-AS1 C22orf15 RGL4 LOC388882 MMP11 LRRC75B PCAT14 GGT1 SPECC1L
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	GSTTP1 LOC100652871 POM121L10P CABIN1 CHCHD10 SPECC1L-ADORA2A DDTL DERL3 GSTT2 BCRP3 SLC2A11 MIF UPB1 POM121L9P ZDHHC8P1 LOC101929374 SUSD2 GGT5 GUCD1 DDT MIF-AS1 SNRPD3 IGLL1 VPREB3 DRICH1 LOC107985555 SMARCB1 LOC107985559 GUSBP11 CES5AP1 GSTT2B ZNF70 ADORA2A ADORA2A-AS1 C22orf15 RGL4 LOC388882 BCR MMP11 LRRC75B PCAT14 GGT1 SPECC1L
nsv1055830	Chr.22:24005071 - 24643213 on Build GRCh38	Gain	GSTTP1 CABIN1 SPECC1L-ADORA2A BCRP3 UPB1 POM121L9P SUSD2 GGT5 GUCD1 ADORA2A ADORA2A-AS1 SNRPD3 LRRC75B GGT1 SPECC1L
esv3893463	Chr.22:24009046 - 24601506 on Build GRCh38	Gain	CABIN1 SPECC1L-ADORA2A UPB1 POM121L9P SUSD2 GGT5 GUCD1 ADORA2A ADORA2A-AS1 SNRPD3 LRRC75B GGT1 SPECC1L
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	GSTTP1 LOC100652871 POM121L10P CABIN1 CHCHD10 SPECC1L-ADORA2A DDTL DERL3 GSTT2 BCRP3 SLC2A11 MIF UPB1 POM121L9P ZDHHC8P1 LOC101929374 SUSD2 GGT5 GUCD1 DDT MIF-AS1 SNRPD3 IGLL1 VPREB3 DRICH1 LOC107985555 SMARCB1 LOC107985559 GUSBP11 CES5AP1 GSTT2B ZNF70 ADORA2A ADORA2A-AS1 C22orf15 RGL4 LOC388882 MMP11 LRRC75B PCAT14 GGT1 SPECC1L
nsv588744	Chr.22:24285587 - 24617379 on Build GRCh38	Gain	GUCD1 ADORA2A ADORA2A-AS1 SPECC1L-ADORA2A SNRPD3 LRRC75B GGT1 UPB1 SPECC1L
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	GSTTP1 LOC100652871 POM121L10P CABIN1 CHCHD10 SPECC1L-ADORA2A DDTL DERL3 GSTT2 BCRP3 SLC2A11 MIF UPB1 POM121L9P ZDHHC8P1 LOC101929374 SUSD2 GGT5 GUCD1 DDT MIF-AS1 SNRPD3 IGLL1 VPREB3 DRICH1 LOC107985555 SMARCB1 LOC107985559 GUSBP11 CES5AP1 GSTT2B ZNF70 ADORA2A ADORA2A-AS1 C22orf15 RGL4 LOC388882 MMP11 LRRC75B PCAT14 GGT1 SPECC1L

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell cycle
cell adhesion
cell division