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 | 2539 | NP_001002914.1 |
AK056227.1 | 1 | 2266 | ||
AY646650.1 | 1 | 2266 | AAT75307.1 | |
BC019929.1 | 1 | 1790 |
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 | SLC2A4 SNORD10 MPDU1 SAT2 C17orf74 ALOX12P2 SLC35G6 SENP3 SHBG LOC107983988 TEKT1 SOX15 TNFSF13 RNASEK YBX2 TNK1 TMEM256-PLSCR3 PLSCR3 MIR324 GABARAP POLR2A ALOX12-AS1 SLC16A13 FBXO39 NLGN2 CD68 FGF11 CLDN7 CHRNB1 TMEM95 TNFSF12 MIR497HG BCL6B MIR497 PHF23 MIR195 GPS2 ALOX12 CLEC10A RNASEK-C17orf49 SNORA67 LOC100996842 SNORA48 TNFSF12-TNFSF13 DLG4 EIF5A ASGR2 TMEM102 SPEM1 KCTD11 SLC16A11 TMEM256 DVL2 ATP1B2 ACAP1 ASGR1 ELP5 CTDNEP1 EIF4A1 FXR2 SENP3-EIF4A1 NEURL4 ACADVL C17orf49 ZBTB4 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | PHF23 SLC2A4 GPS2 C17orf74 LOC107983988 DLG4 YBX2 EIF5A TNK1 TMEM102 TMEM256-PLSCR3 SPEM1 KCTD11 PLSCR3 MIR324 TMEM256 DVL2 GABARAP ACAP1 ASGR1 ELP5 CTDNEP1 NLGN2 FGF11 CLDN7 CHRNB1 TMEM95 NEURL4 ACADVL |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SLC2A4 SNORD10 MPDU1 SAT2 C17orf74 SLC35G6 SENP3 SHBG LOC107983988 SOX15 TNFSF13 RNASEK YBX2 TNK1 TMEM256-PLSCR3 PLSCR3 MIR324 GABARAP POLR2A ALOX12-AS1 SLC16A13 NLGN2 CD68 FGF11 CLDN7 CHRNB1 TMEM95 TNFSF12 MIR497HG BCL6B MIR497 PHF23 WRAP53 MIR195 GPS2 ALOX12 CLEC10A RNASEK-C17orf49 SNORA67 LOC100996842 SNORA48 TNFSF12-TNFSF13 DLG4 TP53 EIF5A ASGR2 TMEM102 SPEM1 KCTD11 SLC16A11 TMEM256 DVL2 ATP1B2 ACAP1 ASGR1 ELP5 CTDNEP1 EIF4A1 FXR2 SENP3-EIF4A1 NEURL4 ACADVL C17orf49 ZBTB4 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |