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 | 2807 | NP_001002914.1 |
AK056227.1 | 1 | 2534 | ||
AY646650.1 | 1 | 2534 | AAT75307.1 | |
BC019929.1 | 1 | 2058 |
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 | TMEM102 SLC16A13 SPEM1 EIF5A GPS2 ACAP1 C17orf74 PHF23 CLEC10A EIF4A1 CLDN7 TEKT1 TMEM256 CHRNB1 FGF11 GABARAP TNFSF13 TMEM95 KCTD11 SOX15 MIR497 RNASEK SLC2A4 ALOX12-AS1 SNORA67 ATP1B2 ASGR1 ELP5 TNFSF12 SNORD10 SNORA48 SAT2 DVL2 FBXO39 CD68 YBX2 NEURL4 DLG4 ACADVL ZBTB4 POLR2A ALOX12P2 BCL6B MPDU1 LOC107983988 ASGR2 SHBG MIR497HG C17orf49 CTDNEP1 TNK1 TMEM256-PLSCR3 RNASEK-C17orf49 NLGN2 MIR195 SENP3-EIF4A1 LOC100996842 ALOX12 SLC35G6 FXR2 MIR324 PLSCR3 SENP3 SLC16A11 TNFSF12-TNFSF13 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | YBX2 NEURL4 TMEM102 DLG4 ACADVL SPEM1 EIF5A GPS2 LOC107983988 ACAP1 C17orf74 PHF23 CLDN7 TMEM256 CHRNB1 FGF11 CTDNEP1 TNK1 TMEM256-PLSCR3 NLGN2 GABARAP TMEM95 KCTD11 SLC2A4 ASGR1 MIR324 ELP5 PLSCR3 DVL2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | TMEM102 SLC16A13 SPEM1 EIF5A GPS2 ACAP1 C17orf74 PHF23 CLEC10A EIF4A1 CLDN7 TMEM256 CHRNB1 FGF11 WRAP53 GABARAP TNFSF13 TMEM95 KCTD11 SOX15 MIR497 RNASEK SLC2A4 ALOX12-AS1 SNORA67 ATP1B2 ASGR1 ELP5 TNFSF12 SNORD10 SNORA48 SAT2 DVL2 CD68 YBX2 NEURL4 DLG4 ACADVL ZBTB4 POLR2A BCL6B MPDU1 LOC107983988 ASGR2 SHBG MIR497HG C17orf49 CTDNEP1 TNK1 TMEM256-PLSCR3 RNASEK-C17orf49 NLGN2 TP53 MIR195 SENP3-EIF4A1 LOC100996842 ALOX12 SLC35G6 FXR2 MIR324 PLSCR3 SENP3 SLC16A11 TNFSF12-TNFSF13 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |