Assay Details
Target Gene Details
Entrez Gene ID: | 9744 |
Gene Name: | ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
Gene Aliases: |
CENTB1 |
Location: |
Chr.17:7336506-7354944 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACAP1 |
Target Gene Details
Entrez Gene ID: | 147040 |
Gene Name: | potassium channel tetramerization domain containing 11 |
Gene Aliases: |
C17orf36, KCASH1, REN, REN/KCTD11 |
Location: |
Chr.17:7351889-7354944 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KCTD11 | NM_001002914.2 | 1 | 2957 | NP_001002914.1 |
AK056227.1 | 1 | 2684 | ||
AY646650.1 | 1 | 2684 | AAT75307.1 | |
BC019929.1 | 1 | 2208 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | PLSCR3 GPS2 MIR497 SENP3-EIF4A1 RNASEK-C17orf49 SLC2A4 LOC107983988 ASGR1 C17orf74 CD68 MPDU1 EIF5A RNASEK CLEC10A ALOX12P2 ALOX12-AS1 SHBG CLDN7 ASGR2 TEKT1 SPEM1 ACAP1 YBX2 TNK1 MIR324 TNFSF12-TNFSF13 BCL6B PHF23 DLG4 ACADVL CHRNB1 DVL2 SOX15 SLC16A13 SLC16A11 ALOX12 MIR195 MIR497HG ZBTB4 NLGN2 TMEM95 TNFSF12 TNFSF13 EIF4A1 SNORA48 FGF11 SNORA67 TMEM256-PLSCR3 SAT2 ELP5 CTDNEP1 TMEM102 SNORD10 GABARAP KCTD11 FXR2 TMEM256 NEURL4 POLR2A C17orf49 ATP1B2 FBXO39 SLC35G6 LOC100996842 SENP3 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | PLSCR3 GPS2 SLC2A4 LOC107983988 ASGR1 NLGN2 C17orf74 EIF5A TMEM95 FGF11 CLDN7 TMEM256-PLSCR3 ELP5 CTDNEP1 TMEM102 SPEM1 GABARAP ACAP1 KCTD11 YBX2 TMEM256 TNK1 NEURL4 MIR324 PHF23 DLG4 ACADVL CHRNB1 DVL2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | PLSCR3 GPS2 MIR497 SENP3-EIF4A1 RNASEK-C17orf49 SLC2A4 LOC107983988 ASGR1 C17orf74 CD68 MPDU1 EIF5A RNASEK CLEC10A WRAP53 ALOX12-AS1 SHBG CLDN7 ASGR2 TP53 SPEM1 ACAP1 YBX2 TNK1 MIR324 TNFSF12-TNFSF13 BCL6B PHF23 DLG4 ACADVL CHRNB1 DVL2 SOX15 SLC16A13 SLC16A11 ALOX12 MIR195 MIR497HG ZBTB4 NLGN2 TMEM95 TNFSF12 TNFSF13 EIF4A1 SNORA48 FGF11 SNORA67 TMEM256-PLSCR3 SAT2 ELP5 CTDNEP1 TMEM102 SNORD10 GABARAP KCTD11 FXR2 TMEM256 NEURL4 POLR2A C17orf49 ATP1B2 SLC35G6 LOC100996842 SENP3 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |