Assay Details
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 2 |
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 | ||||
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 2 |
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 | GUCD1 C22orf15 GUSBP11 VPREB3 SNRPD3 PCAT14 DRICH1 GGT5 DDT UPB1 GSTT2 ZDHHC8P1 MIF POM121L9P GSTTP1 LOC101929374 ADORA2A-AS1 CES5AP1 CHCHD10 LOC107985559 GGT1 DDTL ZNF70 LOC107985555 LOC388882 LRRC75B SLC2A11 CABIN1 SPECC1L MMP11 GSTT2B DERL3 SUSD2 SMARCB1 RGL4 LOC100652871 ADORA2A IGLL1 MIF-AS1 SPECC1L-ADORA2A |
nsv526567 | Chr.22:23348138 - 24600663 on Build GRCh38 | Gain | GUCD1 C22orf15 GUSBP11 VPREB3 SNRPD3 PCAT14 DRICH1 GGT5 DDT UPB1 GSTT2 ZDHHC8P1 MIF POM121L9P GSTTP1 LOC101929374 ADORA2A-AS1 CES5AP1 CHCHD10 LOC107985559 GGT1 DDTL ZNF70 LOC107985555 LOC388882 LRRC75B SLC2A11 CABIN1 SPECC1L MMP11 GSTT2B DERL3 SUSD2 SMARCB1 RGL4 LOC100652871 ADORA2A IGLL1 MIF-AS1 SPECC1L-ADORA2A |
esv2724041 | Chr.22:23315914 - 24669376 on Build GRCh38 | Deletion | GUCD1 POM121L10P C22orf15 GUSBP11 VPREB3 SNRPD3 PCAT14 DRICH1 GGT5 DDT UPB1 GSTT2 ZDHHC8P1 MIF POM121L9P GSTTP1 LOC101929374 ADORA2A-AS1 CES5AP1 CHCHD10 LOC107985559 GGT1 DDTL ZNF70 LOC107985555 LOC388882 BCRP3 LRRC75B SLC2A11 CABIN1 SPECC1L BCR MMP11 GSTT2B DERL3 SUSD2 SMARCB1 RGL4 LOC100652871 ADORA2A IGLL1 MIF-AS1 SPECC1L-ADORA2A |
nsv1055830 | Chr.22:24005071 - 24643213 on Build GRCh38 | Gain | GUCD1 GGT1 BCRP3 LRRC75B CABIN1 SPECC1L SNRPD3 GGT5 UPB1 SUSD2 POM121L9P GSTTP1 ADORA2A SPECC1L-ADORA2A ADORA2A-AS1 |
esv3893463 | Chr.22:24009046 - 24601506 on Build GRCh38 | Gain | GUCD1 GGT1 LRRC75B CABIN1 SPECC1L SNRPD3 GGT5 UPB1 SUSD2 POM121L9P ADORA2A SPECC1L-ADORA2A ADORA2A-AS1 |
dgv4528n100 | Chr.22:23322244 - 24682765 on Build GRCh38 | Gain | GUCD1 POM121L10P C22orf15 GUSBP11 VPREB3 SNRPD3 PCAT14 DRICH1 GGT5 DDT UPB1 GSTT2 ZDHHC8P1 MIF POM121L9P GSTTP1 LOC101929374 ADORA2A-AS1 CES5AP1 CHCHD10 LOC107985559 GGT1 DDTL ZNF70 LOC107985555 LOC388882 BCRP3 LRRC75B SLC2A11 CABIN1 SPECC1L MMP11 GSTT2B DERL3 SUSD2 SMARCB1 RGL4 LOC100652871 ADORA2A IGLL1 MIF-AS1 SPECC1L-ADORA2A |
nsv588744 | Chr.22:24285587 - 24617379 on Build GRCh38 | Gain | GUCD1 UPB1 GGT1 LRRC75B SPECC1L ADORA2A SNRPD3 SPECC1L-ADORA2A ADORA2A-AS1 |
esv3575443 | Chr.22:23348201 - 24670505 on Build GRCh38 | Gain | GUCD1 POM121L10P C22orf15 GUSBP11 VPREB3 SNRPD3 PCAT14 DRICH1 GGT5 DDT UPB1 GSTT2 ZDHHC8P1 MIF POM121L9P GSTTP1 LOC101929374 ADORA2A-AS1 CES5AP1 CHCHD10 LOC107985559 GGT1 DDTL ZNF70 LOC107985555 LOC388882 BCRP3 LRRC75B SLC2A11 CABIN1 SPECC1L MMP11 GSTT2B DERL3 SUSD2 SMARCB1 RGL4 LOC100652871 ADORA2A IGLL1 MIF-AS1 SPECC1L-ADORA2A |
nsv834158 | Chr.22:24126288 - 24293870 on Build GRCh38 | Gain | GGT5 SUSD2 CABIN1 POM121L9P SPECC1L SPECC1L-ADORA2A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |