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 | 4281 | ||
AK222912.1 | BAD96632.1 | |||
AK298194.1 | ||||
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 | DDX39B-AS1 HCG26 MICA HLA-C PSORS1C2 HCP5 LOC102725068 MICB POU5F1 HLA-B HCG27 LOC100287329 SNORD117 NFKBIL1 MCCD1 DDX39B TCF19 ATP6V1G2 C6orf15 ATP6V1G2-DDX39B SNORD84 CDSN PSORS1C3 LTA MIR6891 CCHCR1 PSORS1C1 |
nsv1126749 | Chr.6:31457323 - 32594423 on Build GRCh38 | Deletion | DDX39B-AS1 MSH5-SAPCD1 HCG26 C6orf48 BTNL2 NOTCH4 HCP5 HLA-DRA MICB CYP21A1P MIR6833 EGFL8 CLIC1 LY6G6E C6orf47 C4A LOC100287329 HCG23 LSM2 LY6G6C PRRT1 MCCD1 MSH5 PPT2 LTB GPANK1 AGPAT1 VWA7 HLA-DRB1 AGER NELFE LOC101929163 C2-AS1 MIR4646 LOC100507547 TNXA SNORD84 LTA FKBPL SAPCD1 CFB HLA-DRB5 SAPCD1-AS1 TNXB LOC102725068 MIR1236 HSPA1L ATF6B HSPA1B SKIV2L SNORA38 EHMT2 GPSM3 LST1 SNORD117 PBX2 DXO NFKBIL1 C6orf25 HLA-DRB6 MIR6721 ABHD16A SLC44A4 LY6G5B SNORD48 ZBTB12 DDX39B C2 CSNK2B STK19 ATP6V1G2 MIR6832 LY6G6F PPT2-EGFL8 DDAH2 TNF NEU1 C6orf10 CYP21A2 PRRC2A VARS AIF1 NCR3 ATP6V1G2-DDX39B HSPA1A APOM BAG6 LY6G6D LY6G5C SNORD52 C4B RNF5 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | DDX39B-AS1 C6orf48 HLA-DQA1 NOTCH4 MICB MIR6833 HCG24 COL11A2 CLIC1 RGL2 LY6G6E C6orf47 C4A LOC100287329 LSM2 MCCD1 MSH5 PPT2 GPANK1 PFDN6 C2-AS1 HLA-DOA MIR5004 SNORD84 HLA-DMA DAXX ZBTB9 PHF1 SAPCD1-AS1 TNXB LOC102725068 MIR1236 HLA-DQB1-AS1 ATF6B HSPA1B HLA-DOB LOC100294145 SNORA38 CUTA TAP2 HLA-DPB1 HCG25 DXO NFKBIL1 KIFC1 MIR6721 HLA-DMB SLC44A4 LY6G5B SNORD48 ZBTB12 DDX39B C2 ATP6V1G2 NEU1 HSD17B8 CYP21A2 PRRC2A VARS MIR6873 AIF1 HSPA1A SYNGAP1 APOM BAG6 LY6G5C MIR6834 MSH5-SAPCD1 HCG26 BTNL2 HCP5 HLA-DRA CYP21A1P EGFL8 ZBTB22 RPS18 HLA-DQB2 B3GALT4 HLA-DQB1 MIR219A1 VPS52 HCG23 LY6G6C PRRT1 LTB AGPAT1 PPP1R2P1 VWA7 HLA-DRB1 AGER NELFE LOC101929163 MIR4646 LOC100507547 TNXA TAPBP MIR3135B TAP1 LTA FKBPL RXRB SAPCD1 SLC39A7 CFB HLA-DRB5 PSMB9 HSPA1L SKIV2L PSMB8-AS1 EHMT2 GPSM3 LST1 SNORD117 PBX2 HLA-DPA1 C6orf25 HLA-DRB6 ABHD16A CSNK2B STK19 MIR6832 LY6G6F PPT2-EGFL8 DDAH2 TNF C6orf10 WDR46 HLA-DQA2 NCR3 ATP6V1G2-DDX39B PSMB8 BRD2 LY6G6D SNORD52 HLA-DPB2 C4B RING1 RNF5 |
dgv10403n54 | Chr.6:31312324 - 32049763 on Build GRCh38 | Loss | DDX39B-AS1 MSH5-SAPCD1 HCG26 C6orf48 HCP5 MICB CYP21A1P CLIC1 HLA-B LY6G6E C6orf47 C4A LOC100287329 LSM2 LY6G6C MCCD1 MSH5 LTB GPANK1 VWA7 NELFE C2-AS1 MIR4646 TNXA SNORD84 LTA SAPCD1 CFB MICA SAPCD1-AS1 TNXB LOC102725068 MIR1236 HSPA1L HSPA1B SKIV2L SNORA38 EHMT2 LST1 SNORD117 DXO NFKBIL1 C6orf25 ABHD16A SLC44A4 LY6G5B SNORD48 ZBTB12 DDX39B C2 CSNK2B STK19 ATP6V1G2 MIR6832 LY6G6F DDAH2 TNF NEU1 CYP21A2 PRRC2A VARS AIF1 NCR3 ATP6V1G2-DDX39B HSPA1A APOM BAG6 LY6G6D LY6G5C SNORD52 C4B MIR6891 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | DDX39B-AS1 C6orf48 HLA-DQA1 NOTCH4 MICB MIR6833 HCG24 COL11A2 CLIC1 RGL2 LY6G6E C6orf47 C4A LOC100287329 LSM2 MCCD1 MSH5 PPT2 GPANK1 PFDN6 C2-AS1 HLA-DOA MIR5004 SNORD84 HLA-DMA DAXX ZBTB9 PHF1 SAPCD1-AS1 TNXB LOC102725068 MIR1236 HLA-DQB1-AS1 ATF6B HSPA1B HLA-DOB LOC100294145 SNORA38 CUTA TAP2 HLA-DPB1 HCG25 DXO NFKBIL1 KIFC1 MIR6721 HLA-DMB SLC44A4 LY6G5B SNORD48 ZBTB12 DDX39B C2 ATP6V1G2 NEU1 HSD17B8 CYP21A2 PRRC2A VARS MIR6873 AIF1 HSPA1A SYNGAP1 APOM BAG6 LY6G5C MIR6834 MSH5-SAPCD1 HCG26 BTNL2 HCP5 HLA-DRA CYP21A1P EGFL8 ZBTB22 RPS18 HLA-DQB2 B3GALT4 HLA-DQB1 MIR219A1 VPS52 HCG23 LY6G6C PRRT1 LTB AGPAT1 PPP1R2P1 VWA7 HLA-DRB1 AGER NELFE LOC101929163 MIR4646 LOC100507547 TNXA TAPBP MIR3135B TAP1 LTA FKBPL RXRB SAPCD1 SLC39A7 CFB HLA-DRB5 PSMB9 HSPA1L SKIV2L PSMB8-AS1 EHMT2 GPSM3 LST1 SNORD117 PBX2 HLA-DPA1 C6orf25 HLA-DRB6 ABHD16A CSNK2B STK19 MIR6832 LY6G6F PPT2-EGFL8 DDAH2 TNF C6orf10 WDR46 HLA-DQA2 NCR3 ATP6V1G2-DDX39B PSMB8 BRD2 LY6G6D SNORD52 HLA-DPB2 C4B RING1 RNF5 |
nsv470809 | Chr.6:31529138 - 31576412 on Build GRCh38 | Loss | DDX39B-AS1 MCCD1 ATP6V1G2-DDX39B SNORD84 DDX39B LTA ATP6V1G2 LOC100287329 SNORD117 TNF NFKBIL1 |
dgv10404n54 | Chr.6:31312550 - 32516591 on Build GRCh38 | Loss | DDX39B-AS1 MSH5-SAPCD1 HCG26 C6orf48 BTNL2 NOTCH4 HCP5 HLA-DRA MICB CYP21A1P MIR6833 EGFL8 CLIC1 HLA-B LY6G6E C6orf47 C4A LOC100287329 HCG23 LSM2 LY6G6C PRRT1 MCCD1 MSH5 PPT2 LTB GPANK1 AGPAT1 VWA7 AGER NELFE LOC101929163 C2-AS1 MIR4646 LOC100507547 TNXA SNORD84 LTA FKBPL SAPCD1 CFB MICA SAPCD1-AS1 TNXB LOC102725068 MIR1236 HSPA1L ATF6B HSPA1B SKIV2L SNORA38 EHMT2 GPSM3 LST1 SNORD117 PBX2 DXO NFKBIL1 C6orf25 MIR6721 ABHD16A SLC44A4 LY6G5B SNORD48 ZBTB12 DDX39B C2 CSNK2B STK19 ATP6V1G2 MIR6832 LY6G6F PPT2-EGFL8 DDAH2 TNF NEU1 C6orf10 CYP21A2 PRRC2A VARS AIF1 NCR3 ATP6V1G2-DDX39B HSPA1A APOM BAG6 LY6G6D LY6G5C SNORD52 C4B MIR6891 RNF5 |
nsv830627 | Chr.6:31528437 - 31692173 on Build GRCh38 | Loss | DDX39B-AS1 SNORA38 C6orf47 LST1 LOC100287329 SNORD117 NFKBIL1 ABHD16A MCCD1 LY6G5B LTB DDX39B GPANK1 CSNK2B ATP6V1G2 MIR6832 TNF PRRC2A AIF1 NCR3 ATP6V1G2-DDX39B SNORD84 APOM LTA BAG6 LY6G5C |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |