Assay Details
Target Gene Details
Entrez Gene ID: | 100532732 |
Gene Name: | MSH5-SAPCD1 readthrough (NMD candidate) |
Gene Aliases: |
MSH5-C6orf26 |
Location: |
Chr.6:31739948-31764850 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 25 - Exon 26 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MSH5-SAPCD1 | NR_037846.1 | |||
AJ245661.1 | CAB52406.1 | |||
AL122094.1 | CAB59262.1 |
Target Gene Details
Entrez Gene ID: | 401251 |
Gene Name: | suppressor APC domain containing 1 |
Gene Aliases: |
C6orf26, NG23 |
Location: |
Chr.6:31762996-31764850 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SAPCD1 | NM_001039651.1 | NP_001034740.1 | ||
BC137541.1 | ||||
BC137542.1 | ||||
BU162048.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1126749 | Chr.6:31457323 - 32594423 on Build GRCh38 | Deletion | LY6G5B SAPCD1-AS1 VARS HSPA1L C2-AS1 LY6G6D NEU1 CSNK2B NCR3 SKIV2L HLA-DRB5 C6orf48 BAG6 C6orf47 SNORD52 AGER C4A APOM MCCD1 PRRC2A ATP6V1G2-DDX39B CFB LY6G6F FKBPL NFKBIL1 AIF1 EGFL8 LY6G6C HCG26 LOC100287329 SLC44A4 DDAH2 ATP6V1G2 LTA C2 MICB LTB HCP5 ABHD16A HLA-DRB1 MIR1236 C6orf10 MIR6721 SNORD48 LOC101929163 SAPCD1 GPSM3 GPANK1 SNORD84 HLA-DRB6 MSH5-SAPCD1 LST1 DDX39B-AS1 VWA7 STK19 AGPAT1 DDX39B CYP21A1P LSM2 HSPA1B ZBTB12 DXO PPT2-EGFL8 MIR6832 PPT2 C4B TNXB CYP21A2 MIR6833 SNORD117 HCG23 LY6G5C NOTCH4 TNXA PBX2 MIR4646 BTNL2 LY6G6E TNF RNF5 EHMT2 HSPA1A HLA-DRA CLIC1 LOC102725068 MSH5 SNORA38 NELFE LOC100507547 C6orf25 ATF6B PRRT1 |
esv2763547 | Chr.6:31748105 - 31770701 on Build GRCh38 | Loss | MSH5-SAPCD1 VWA7 SAPCD1-AS1 MSH5 SAPCD1 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | LY6G5B PFDN6 LY6G6D CSNK2B CUTA SKIV2L SYNGAP1 HLA-DRB5 BAG6 ZBTB22 LOC100294145 SNORD52 HLA-DOA C4A TAPBP HCG24 MCCD1 COL11A2 ZBTB9 CFB AIF1 EGFL8 LOC100287329 SLC39A7 BRD2 KIFC1 DDAH2 ATP6V1G2 LTA C2 LTB HCP5 MIR219A1 HLA-DMA HLA-DRB1 HLA-DMB MIR1236 RPS18 TAP1 HSD17B8 GPSM3 SNORD84 B3GALT4 HLA-DRB6 LST1 HLA-DQA2 VWA7 HLA-DQB1 CYP21A1P PPP1R2P1 MIR6832 PPT2 TNXB CYP21A2 MIR6833 HCG23 LY6G5C NOTCH4 PBX2 BTNL2 PSMB8 HSPA1A CLIC1 LOC102725068 MSH5 SNORA38 LOC100507547 HCG25 ATF6B PRRT1 MIR3135B SAPCD1-AS1 VARS MIR6834 WDR46 HSPA1L C2-AS1 NEU1 NCR3 HLA-DQB2 MIR6873 C6orf48 HLA-DQA1 RGL2 C6orf47 PSMB9 AGER HLA-DQB1-AS1 APOM PHF1 PRRC2A ATP6V1G2-DDX39B LY6G6F FKBPL NFKBIL1 LY6G6C HCG26 SLC44A4 HLA-DPA1 MICB ABHD16A C6orf10 RXRB HLA-DPB2 HLA-DOB MIR6721 PSMB8-AS1 MIR5004 SNORD48 LOC101929163 SAPCD1 GPANK1 MSH5-SAPCD1 DDX39B-AS1 STK19 AGPAT1 VPS52 DDX39B RING1 LSM2 HSPA1B ZBTB12 DXO PPT2-EGFL8 C4B TAP2 SNORD117 TNXA MIR4646 LY6G6E TNF RNF5 HLA-DPB1 DAXX EHMT2 HLA-DRA NELFE C6orf25 |
dgv10403n54 | Chr.6:31312324 - 32049763 on Build GRCh38 | Loss | LY6G5B MIR6891 SAPCD1-AS1 VARS HSPA1L C2-AS1 LY6G6D NEU1 CSNK2B NCR3 SKIV2L C6orf48 BAG6 C6orf47 SNORD52 C4A MICA APOM MCCD1 PRRC2A ATP6V1G2-DDX39B CFB LY6G6F NFKBIL1 AIF1 LY6G6C HCG26 LOC100287329 SLC44A4 DDAH2 ATP6V1G2 LTA C2 MICB LTB HCP5 ABHD16A MIR1236 SNORD48 SAPCD1 GPANK1 SNORD84 MSH5-SAPCD1 LST1 DDX39B-AS1 VWA7 STK19 DDX39B CYP21A1P LSM2 HSPA1B ZBTB12 DXO MIR6832 HLA-B C4B TNXB CYP21A2 SNORD117 LY6G5C TNXA MIR4646 LY6G6E TNF EHMT2 HSPA1A CLIC1 LOC102725068 MSH5 SNORA38 NELFE C6orf25 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | LY6G5B PFDN6 LY6G6D CSNK2B CUTA SKIV2L SYNGAP1 HLA-DRB5 BAG6 ZBTB22 LOC100294145 SNORD52 HLA-DOA C4A TAPBP HCG24 MCCD1 COL11A2 ZBTB9 CFB AIF1 EGFL8 LOC100287329 SLC39A7 BRD2 KIFC1 DDAH2 ATP6V1G2 LTA C2 LTB HCP5 MIR219A1 HLA-DMA HLA-DRB1 HLA-DMB MIR1236 RPS18 TAP1 HSD17B8 GPSM3 SNORD84 B3GALT4 HLA-DRB6 LST1 HLA-DQA2 VWA7 HLA-DQB1 CYP21A1P PPP1R2P1 MIR6832 PPT2 TNXB CYP21A2 MIR6833 HCG23 LY6G5C NOTCH4 PBX2 BTNL2 PSMB8 HSPA1A CLIC1 LOC102725068 MSH5 SNORA38 LOC100507547 HCG25 ATF6B PRRT1 MIR3135B SAPCD1-AS1 VARS MIR6834 WDR46 HSPA1L C2-AS1 NEU1 NCR3 HLA-DQB2 MIR6873 C6orf48 HLA-DQA1 RGL2 C6orf47 PSMB9 AGER HLA-DQB1-AS1 APOM PHF1 PRRC2A ATP6V1G2-DDX39B LY6G6F FKBPL NFKBIL1 LY6G6C HCG26 SLC44A4 HLA-DPA1 MICB ABHD16A C6orf10 RXRB HLA-DPB2 HLA-DOB MIR6721 PSMB8-AS1 MIR5004 SNORD48 LOC101929163 SAPCD1 GPANK1 MSH5-SAPCD1 DDX39B-AS1 STK19 AGPAT1 VPS52 DDX39B RING1 LSM2 HSPA1B ZBTB12 DXO PPT2-EGFL8 C4B TAP2 SNORD117 TNXA MIR4646 LY6G6E TNF RNF5 HLA-DPB1 DAXX EHMT2 HLA-DRA NELFE C6orf25 |
dgv10404n54 | Chr.6:31312550 - 32516591 on Build GRCh38 | Loss | LY6G5B MIR6891 SAPCD1-AS1 VARS HSPA1L C2-AS1 LY6G6D NEU1 CSNK2B NCR3 SKIV2L C6orf48 BAG6 C6orf47 SNORD52 AGER C4A MICA APOM MCCD1 PRRC2A ATP6V1G2-DDX39B CFB LY6G6F FKBPL NFKBIL1 AIF1 EGFL8 LY6G6C HCG26 LOC100287329 SLC44A4 DDAH2 ATP6V1G2 LTA C2 MICB LTB HCP5 ABHD16A MIR1236 C6orf10 MIR6721 SNORD48 LOC101929163 SAPCD1 GPSM3 GPANK1 SNORD84 MSH5-SAPCD1 LST1 DDX39B-AS1 VWA7 STK19 AGPAT1 DDX39B CYP21A1P LSM2 HSPA1B ZBTB12 DXO PPT2-EGFL8 MIR6832 HLA-B PPT2 C4B TNXB CYP21A2 MIR6833 SNORD117 HCG23 LY6G5C NOTCH4 TNXA PBX2 MIR4646 BTNL2 LY6G6E TNF RNF5 EHMT2 HSPA1A HLA-DRA CLIC1 LOC102725068 MSH5 SNORA38 NELFE LOC100507547 C6orf25 ATF6B PRRT1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |