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 | 369 | NP_001002914.1 |
AK056227.1 | 1 | 96 | ||
AY646650.1 | 1 | 96 | AAT75307.1 |
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 YBX2 KCTD11 SNORA67 FBXO39 SLC35G6 MIR324 TEKT1 TNFSF12-TNFSF13 GPS2 POLR2A DVL2 CHRNB1 TMEM102 PHF23 ACADVL ALOX12P2 MIR497HG ASGR1 SENP3-EIF4A1 SAT2 SNORA48 EIF5A ZBTB4 SENP3 MPDU1 NLGN2 GABARAP C17orf74 SNORD10 CLEC10A ALOX12-AS1 CLDN7 TMEM95 ELP5 TNK1 SHBG EIF4A1 TNFSF12 SLC16A13 SLC16A11 BCL6B FXR2 TMEM256 MIR497 SLC2A4 FGF11 C17orf49 ATP1B2 RNASEK PLSCR3 ALOX12 RNASEK-C17orf49 TNFSF13 SOX15 NEURL4 DLG4 MIR195 CD68 LOC107983988 LOC100996842 CTDNEP1 ACAP1 SPEM1 ASGR2 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | CLDN7 TMEM256-PLSCR3 TMEM95 ELP5 TNK1 YBX2 KCTD11 TMEM256 MIR324 GPS2 SLC2A4 FGF11 DVL2 CHRNB1 TMEM102 PHF23 ACADVL PLSCR3 ASGR1 EIF5A NEURL4 DLG4 LOC107983988 NLGN2 GABARAP C17orf74 CTDNEP1 ACAP1 SPEM1 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | WRAP53 TMEM256-PLSCR3 YBX2 KCTD11 SNORA67 TP53 SLC35G6 MIR324 TNFSF12-TNFSF13 GPS2 POLR2A DVL2 CHRNB1 TMEM102 PHF23 ACADVL MIR497HG ASGR1 SENP3-EIF4A1 SAT2 SNORA48 EIF5A ZBTB4 SENP3 MPDU1 NLGN2 GABARAP C17orf74 SNORD10 CLEC10A ALOX12-AS1 CLDN7 TMEM95 ELP5 TNK1 SHBG EIF4A1 TNFSF12 SLC16A13 SLC16A11 BCL6B FXR2 TMEM256 MIR497 SLC2A4 FGF11 C17orf49 ATP1B2 RNASEK PLSCR3 ALOX12 RNASEK-C17orf49 TNFSF13 SOX15 NEURL4 DLG4 MIR195 CD68 LOC107983988 LOC100996842 CTDNEP1 ACAP1 SPEM1 ASGR2 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |