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 | 2296 | NP_001002914.1 |
AK056227.1 | 1 | 2023 | ||
AY646650.1 | 1 | 2023 | AAT75307.1 | |
BC019929.1 | 1 | 1547 |
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 | ACAP1 NLGN2 ELP5 SLC2A4 DLG4 ASGR2 ACADVL ZBTB4 PLSCR3 TNFSF12 KCTD11 MIR324 RNASEK ALOX12 ALOX12P2 PHF23 CD68 TMEM256 C17orf74 SLC35G6 FXR2 YBX2 ATP1B2 SAT2 TMEM95 SPEM1 SOX15 SENP3 C17orf49 ASGR1 MIR497 CLDN7 POLR2A GABARAP LOC100996842 FGF11 NEURL4 MIR497HG CLEC10A MPDU1 CTDNEP1 TNK1 GPS2 EIF4A1 SNORD10 BCL6B EIF5A TNFSF12-TNFSF13 DVL2 SNORA67 SHBG ALOX12-AS1 TMEM256-PLSCR3 CHRNB1 TEKT1 TNFSF13 FBXO39 RNASEK-C17orf49 SNORA48 SENP3-EIF4A1 LOC107983988 TMEM102 SLC16A13 MIR195 SLC16A11 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | ACAP1 NLGN2 CTDNEP1 TNK1 ELP5 GPS2 SLC2A4 DLG4 ACADVL PLSCR3 KCTD11 MIR324 EIF5A DVL2 PHF23 TMEM256 C17orf74 YBX2 TMEM256-PLSCR3 TMEM95 CHRNB1 SPEM1 ASGR1 CLDN7 LOC107983988 TMEM102 GABARAP FGF11 NEURL4 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | ACAP1 NLGN2 ELP5 SLC2A4 DLG4 ASGR2 ACADVL ZBTB4 PLSCR3 TNFSF12 KCTD11 MIR324 RNASEK WRAP53 ALOX12 PHF23 CD68 TMEM256 C17orf74 SLC35G6 FXR2 YBX2 ATP1B2 SAT2 TMEM95 SPEM1 SOX15 SENP3 C17orf49 ASGR1 MIR497 CLDN7 POLR2A GABARAP LOC100996842 FGF11 NEURL4 MIR497HG CLEC10A MPDU1 CTDNEP1 TNK1 GPS2 EIF4A1 SNORD10 BCL6B EIF5A TNFSF12-TNFSF13 DVL2 SNORA67 SHBG ALOX12-AS1 TMEM256-PLSCR3 CHRNB1 TNFSF13 RNASEK-C17orf49 SNORA48 SENP3-EIF4A1 LOC107983988 TMEM102 SLC16A13 MIR195 SLC16A11 TP53 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |