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 | 880 | NP_001002914.1 |
AK056227.1 | 1 | 607 | ||
AY646650.1 | 1 | 607 | AAT75307.1 | |
BC019929.1 | 1 | 131 | ||
BC110598.2 | 1 | 235 | AAI10599.1 |
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 | TMEM256-PLSCR3 SENP3 SNORD10 MIR195 TMEM102 FXR2 ASGR1 TEKT1 ALOX12-AS1 CHRNB1 PHF23 MIR497 TNFSF12 SOX15 ATP1B2 ALOX12 ALOX12P2 ELP5 C17orf74 PLSCR3 CTDNEP1 KCTD11 NLGN2 DVL2 MPDU1 NEURL4 C17orf49 YBX2 ACAP1 BCL6B MIR497HG ASGR2 GABARAP EIF4A1 CLEC10A ACADVL SLC16A13 FGF11 SLC16A11 SENP3-EIF4A1 SPEM1 EIF5A LOC100996842 CD68 RNASEK-C17orf49 TMEM256 SHBG RNASEK SNORA67 ZBTB4 LOC107983988 FBXO39 MIR324 CLDN7 TMEM95 SAT2 SLC35G6 POLR2A DLG4 GPS2 SNORA48 TNFSF13 TNK1 TNFSF12-TNFSF13 SLC2A4 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | TMEM256-PLSCR3 ACADVL TMEM102 FGF11 ASGR1 CHRNB1 SPEM1 EIF5A PHF23 TMEM256 ELP5 C17orf74 PLSCR3 CTDNEP1 KCTD11 NLGN2 DVL2 LOC107983988 NEURL4 YBX2 MIR324 ACAP1 CLDN7 TMEM95 DLG4 GPS2 GABARAP TNK1 SLC2A4 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | TMEM256-PLSCR3 SENP3 SNORD10 MIR195 TMEM102 FXR2 ASGR1 ALOX12-AS1 CHRNB1 PHF23 MIR497 TNFSF12 SOX15 ATP1B2 ALOX12 ELP5 C17orf74 PLSCR3 CTDNEP1 KCTD11 NLGN2 DVL2 MPDU1 NEURL4 C17orf49 YBX2 ACAP1 BCL6B MIR497HG ASGR2 TP53 GABARAP EIF4A1 CLEC10A ACADVL SLC16A13 FGF11 SLC16A11 SENP3-EIF4A1 SPEM1 EIF5A LOC100996842 CD68 RNASEK-C17orf49 TMEM256 SHBG RNASEK SNORA67 ZBTB4 WRAP53 LOC107983988 MIR324 CLDN7 TMEM95 SAT2 SLC35G6 POLR2A DLG4 GPS2 SNORA48 TNFSF13 TNK1 TNFSF12-TNFSF13 SLC2A4 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |