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: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KCTD11 | NM_001002914.2 | NP_001002914.1 | ||
AK056227.1 | ||||
AY646650.1 | AAT75307.1 | |||
BC019929.1 |
Target Gene Details
Entrez Gene ID: | 339168 |
Gene Name: | transmembrane protein 95 |
Gene Aliases: |
UNQ9390 |
Location: |
Chr.17:7354968-7357219 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMEM95 | XM_017024571.1 | XP_016880060.1 |
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 | SAT2 MIR497HG ALOX12 TEKT1 SLC16A11 ASGR2 SHBG TNFSF13 MIR324 DVL2 SLC35G6 YBX2 ACAP1 ZBTB4 SENP3-EIF4A1 SPEM1 EIF5A EIF4A1 SOX15 DLG4 PHF23 NEURL4 TMEM102 C17orf49 MPDU1 CHRNB1 LOC100996842 NLGN2 LOC107983988 CD68 FXR2 MIR195 PLSCR3 ATP1B2 ACADVL SNORA67 POLR2A RNASEK TNFSF12-TNFSF13 BCL6B CTDNEP1 SNORA48 ALOX12P2 ALOX12-AS1 CLEC10A SLC16A13 C17orf74 GABARAP TNFSF12 TMEM256 SNORD10 SENP3 MIR497 RNASEK-C17orf49 TNK1 TMEM256-PLSCR3 ASGR1 ELP5 FGF11 SLC2A4 KCTD11 FBXO39 TMEM95 CLDN7 GPS2 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | ACADVL CTDNEP1 MIR324 DVL2 YBX2 ACAP1 SPEM1 EIF5A C17orf74 GABARAP DLG4 PHF23 TMEM256 NEURL4 TMEM102 CHRNB1 NLGN2 TNK1 TMEM256-PLSCR3 ASGR1 LOC107983988 ELP5 FGF11 SLC2A4 KCTD11 TMEM95 CLDN7 GPS2 PLSCR3 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SAT2 MIR497HG ALOX12 SLC16A11 ASGR2 SHBG TNFSF13 MIR324 DVL2 SLC35G6 YBX2 ACAP1 ZBTB4 SENP3-EIF4A1 SPEM1 EIF5A EIF4A1 SOX15 DLG4 PHF23 NEURL4 TMEM102 C17orf49 MPDU1 CHRNB1 LOC100996842 NLGN2 LOC107983988 CD68 FXR2 WRAP53 MIR195 PLSCR3 ATP1B2 ACADVL SNORA67 POLR2A RNASEK TNFSF12-TNFSF13 BCL6B CTDNEP1 SNORA48 TP53 ALOX12-AS1 CLEC10A SLC16A13 C17orf74 GABARAP TNFSF12 TMEM256 SNORD10 SENP3 MIR497 RNASEK-C17orf49 TNK1 TMEM256-PLSCR3 ASGR1 ELP5 FGF11 SLC2A4 KCTD11 TMEM95 CLDN7 GPS2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |