Assay Details
Target Gene Details
Entrez Gene ID: | 100532737 |
Gene Name: | ATP6V1G2-DDX39B readthrough (NMD candidate) |
Gene Aliases: |
- |
Location: |
Chr.6:31530219-31546848 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP6V1G2-DDX39B | NR_037853.1 |
Target Gene Details
Entrez Gene ID: | 7919 |
Gene Name: | DEAD-box helicase 39B |
Gene Aliases: |
BAT1, D6S81E, UAP56 |
Location: |
Chr.6:31530219-31542475 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DDX39B | NM_004640.6 | NP_004631.1 | ||
NM_080598.5 | NP_542165.1 | |||
NR_037852.1 | ||||
AK127767.1 | 5 | 2781 | ||
AK222912.1 | BAD96632.1 | |||
AK295634.1 | ||||
AK295854.1 | 4 | 1145 | ||
AK298194.1 | ||||
AK316469.1 | ||||
BC000361.2 | AAH00361.1 | |||
BC013006.2 | AAH13006.1 | |||
BT009909.1 | AAP88911.1 | |||
Z37166.1 | CAA85523.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759414 | Chr.6:31060513 - 31574531 on Build GRCh38 | Gain+Loss | HLA-C CDSN MICA ATP6V1G2 MIR6891 C6orf15 HLA-B DDX39B-AS1 MICB PSORS1C2 NFKBIL1 TCF19 SNORD117 PSORS1C1 PSORS1C3 POU5F1 SNORD84 LTA LOC102725068 LOC100287329 HCG27 MCCD1 HCG26 DDX39B CCHCR1 ATP6V1G2-DDX39B HCP5 |
nsv1126749 | Chr.6:31457323 - 32594423 on Build GRCh38 | Deletion | CSNK2B SNORD52 PRRT1 LY6G6E LSM2 C6orf47 RNF5 CYP21A2 HSPA1A ATF6B TNXB SAPCD1-AS1 LY6G6C LY6G5B MIR1236 VARS HSPA1L LY6G6F HSPA1B NCR3 NEU1 SNORD84 BAG6 LOC101929163 C6orf10 C4A C2 PRRC2A NOTCH4 VWA7 TNF MSH5 TNXA SKIV2L MIR6721 DDX39B LY6G6D CFB ATP6V1G2-DDX39B C6orf25 C4B STK19 SLC44A4 HLA-DRA HLA-DRB1 MIR6833 FKBPL CLIC1 AIF1 PBX2 MSH5-SAPCD1 SNORA38 ATP6V1G2 HCG23 BTNL2 ZBTB12 EHMT2 GPSM3 C6orf48 DDX39B-AS1 PPT2 MICB DXO LY6G5C SNORD48 MIR6832 LOC100507547 NFKBIL1 MIR4646 SNORD117 EGFL8 PPT2-EGFL8 DDAH2 CYP21A1P LST1 AGER LTA LOC102725068 LOC100287329 ABHD16A MCCD1 APOM AGPAT1 HCG26 HLA-DRB5 NELFE HLA-DRB6 C2-AS1 SAPCD1 HCP5 GPANK1 LTB |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | RXRB HLA-DMA CSNK2B SNORD52 PRRT1 LY6G6E LSM2 C6orf47 CYP21A2 HSPA1A ATF6B HCG25 HLA-DQA2 LY6G5B MIR1236 VARS HSPA1B NEU1 ZBTB22 SNORD84 C6orf10 PRRC2A PSMB9 ZBTB9 MSH5 HLA-DPB2 WDR46 TNXA SKIV2L MIR6721 CFB ATP6V1G2-DDX39B RPS18 STK19 SLC44A4 HLA-DRB1 MIR6833 CLIC1 PBX2 MSH5-SAPCD1 SNORA38 ATP6V1G2 MIR219A1 ZBTB12 EHMT2 CUTA DDX39B-AS1 MICB TAP2 RING1 DXO HLA-DQB2 NFKBIL1 MIR4646 PFDN6 MIR3135B AGER LTA HCG26 MIR5004 PSMB8 SAPCD1 HLA-DPB1 HLA-DQB1-AS1 KIFC1 HCP5 GPANK1 DAXX RNF5 HLA-DQB1 TNXB VPS52 HLA-DMB SAPCD1-AS1 LY6G6C HLA-DPA1 LOC100294145 PHF1 HSPA1L LY6G6F NCR3 BAG6 LOC101929163 C4A C2 NOTCH4 VWA7 SLC39A7 TNF DDX39B LY6G6D C6orf25 C4B HLA-DRA HCG24 FKBPL HLA-DQA1 BRD2 AIF1 MIR6834 HSD17B8 PPP1R2P1 HCG23 BTNL2 TAP1 HLA-DOA PSMB8-AS1 HLA-DOB GPSM3 C6orf48 PPT2 LY6G5C SNORD48 MIR6832 LOC100507547 B3GALT4 SNORD117 EGFL8 PPT2-EGFL8 DDAH2 CYP21A1P RGL2 LST1 TAPBP LOC102725068 LOC100287329 ABHD16A MCCD1 APOM AGPAT1 COL11A2 HLA-DRB5 NELFE HLA-DRB6 C2-AS1 MIR6873 SYNGAP1 LTB |
dgv10403n54 | Chr.6:31312324 - 32049763 on Build GRCh38 | Loss | CSNK2B SNORD52 LY6G6E LSM2 C6orf47 MIR6891 CYP21A2 HSPA1A HLA-B TNXB SAPCD1-AS1 LY6G6C LY6G5B MIR1236 VARS HSPA1L LY6G6F HSPA1B NCR3 NEU1 SNORD84 BAG6 C4A C2 PRRC2A VWA7 TNF MSH5 TNXA SKIV2L DDX39B LY6G6D CFB ATP6V1G2-DDX39B C6orf25 C4B STK19 SLC44A4 CLIC1 AIF1 MSH5-SAPCD1 SNORA38 MICA ATP6V1G2 ZBTB12 EHMT2 C6orf48 DDX39B-AS1 MICB DXO LY6G5C SNORD48 MIR6832 NFKBIL1 MIR4646 SNORD117 DDAH2 CYP21A1P LST1 LTA LOC102725068 LOC100287329 ABHD16A MCCD1 APOM HCG26 NELFE C2-AS1 SAPCD1 HCP5 GPANK1 LTB |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | RXRB HLA-DMA CSNK2B SNORD52 PRRT1 LY6G6E LSM2 C6orf47 CYP21A2 HSPA1A ATF6B HCG25 HLA-DQA2 LY6G5B MIR1236 VARS HSPA1B NEU1 ZBTB22 SNORD84 C6orf10 PRRC2A PSMB9 ZBTB9 MSH5 HLA-DPB2 WDR46 TNXA SKIV2L MIR6721 CFB ATP6V1G2-DDX39B RPS18 STK19 SLC44A4 HLA-DRB1 MIR6833 CLIC1 PBX2 MSH5-SAPCD1 SNORA38 ATP6V1G2 MIR219A1 ZBTB12 EHMT2 CUTA DDX39B-AS1 MICB TAP2 RING1 DXO HLA-DQB2 NFKBIL1 MIR4646 PFDN6 MIR3135B AGER LTA HCG26 MIR5004 PSMB8 SAPCD1 HLA-DPB1 HLA-DQB1-AS1 KIFC1 HCP5 GPANK1 DAXX RNF5 HLA-DQB1 TNXB VPS52 HLA-DMB SAPCD1-AS1 LY6G6C HLA-DPA1 LOC100294145 PHF1 HSPA1L LY6G6F NCR3 BAG6 LOC101929163 C4A C2 NOTCH4 VWA7 SLC39A7 TNF DDX39B LY6G6D C6orf25 C4B HLA-DRA HCG24 FKBPL HLA-DQA1 BRD2 AIF1 MIR6834 HSD17B8 PPP1R2P1 HCG23 BTNL2 TAP1 HLA-DOA PSMB8-AS1 HLA-DOB GPSM3 C6orf48 PPT2 LY6G5C SNORD48 MIR6832 LOC100507547 B3GALT4 SNORD117 EGFL8 PPT2-EGFL8 DDAH2 CYP21A1P RGL2 LST1 TAPBP LOC102725068 LOC100287329 ABHD16A MCCD1 APOM AGPAT1 COL11A2 HLA-DRB5 NELFE HLA-DRB6 C2-AS1 MIR6873 SYNGAP1 LTB |
nsv470809 | Chr.6:31529138 - 31576412 on Build GRCh38 | Loss | DDX39B DDX39B-AS1 SNORD84 LTA ATP6V1G2-DDX39B ATP6V1G2 LOC100287329 NFKBIL1 MCCD1 SNORD117 TNF |
dgv10404n54 | Chr.6:31312550 - 32516591 on Build GRCh38 | Loss | CSNK2B SNORD52 PRRT1 LY6G6E LSM2 C6orf47 RNF5 MIR6891 CYP21A2 HSPA1A HLA-B ATF6B TNXB SAPCD1-AS1 LY6G6C LY6G5B MIR1236 VARS HSPA1L LY6G6F HSPA1B NCR3 NEU1 SNORD84 BAG6 LOC101929163 C6orf10 C4A C2 PRRC2A NOTCH4 VWA7 TNF MSH5 TNXA SKIV2L MIR6721 DDX39B LY6G6D CFB ATP6V1G2-DDX39B C6orf25 C4B STK19 SLC44A4 HLA-DRA MIR6833 FKBPL CLIC1 AIF1 PBX2 MSH5-SAPCD1 SNORA38 MICA ATP6V1G2 HCG23 BTNL2 ZBTB12 EHMT2 GPSM3 C6orf48 DDX39B-AS1 PPT2 MICB DXO LY6G5C SNORD48 MIR6832 LOC100507547 NFKBIL1 MIR4646 SNORD117 EGFL8 PPT2-EGFL8 DDAH2 CYP21A1P LST1 AGER LTA LOC102725068 LOC100287329 ABHD16A MCCD1 APOM AGPAT1 HCG26 NELFE C2-AS1 SAPCD1 HCP5 GPANK1 LTB |
nsv830627 | Chr.6:31528437 - 31692173 on Build GRCh38 | Loss | CSNK2B AIF1 SNORA38 C6orf47 ATP6V1G2 DDX39B-AS1 LY6G5C MIR6832 LY6G5B NFKBIL1 SNORD117 NCR3 LST1 SNORD84 BAG6 LTA LOC100287329 ABHD16A PRRC2A MCCD1 APOM TNF DDX39B ATP6V1G2-DDX39B GPANK1 LTB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |