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 9 |
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 7 |
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 | ||||
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 | HCG27 LTA PSORS1C3 HLA-C SNORD84 SNORD117 MCCD1 MICB NFKBIL1 C6orf15 HLA-B CDSN POU5F1 LOC102725068 DDX39B-AS1 DDX39B MIR6891 CCHCR1 HCG26 PSORS1C1 HCP5 LOC100287329 ATP6V1G2-DDX39B TCF19 MICA PSORS1C2 ATP6V1G2 |
nsv1126749 | Chr.6:31457323 - 32594423 on Build GRCh38 | Deletion | C6orf47 SAPCD1 LY6G6F DDAH2 CFB MIR6833 HLA-DRB1 PPT2 MIR1236 CSNK2B LOC102725068 DDX39B-AS1 LOC101929163 LY6G6D C2 SNORD48 PRRT1 DDX39B NOTCH4 VWA7 EGFL8 LOC100507547 PPT2-EGFL8 CYP21A1P AGER LY6G6E HCP5 LOC100287329 HLA-DRA TNF HSPA1L ABHD16A ATF6B CYP21A2 LY6G5B DXO FKBPL GPSM3 MIR4646 MIR6721 LY6G6C NELFE NEU1 STK19 SKIV2L BAG6 LTA SNORD84 SNORD117 MCCD1 MICB SNORA38 NFKBIL1 LTB MIR6832 VARS HCG23 SLC44A4 NCR3 MSH5-SAPCD1 EHMT2 MSH5 LY6G5C SAPCD1-AS1 HLA-DRB5 C4B APOM TNXB PRRC2A RNF5 LST1 GPANK1 PBX2 AGPAT1 C6orf25 C2-AS1 SNORD52 HCG26 HSPA1A AIF1 C6orf10 C4A CLIC1 ATP6V1G2-DDX39B HLA-DRB6 LSM2 ZBTB12 TNXA HSPA1B BTNL2 ATP6V1G2 C6orf48 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | C6orf47 SAPCD1 CFB RPS18 MIR3135B PPT2 PFDN6 BRD2 MIR6834 DDX39B-AS1 SNORD48 HSD17B8 HLA-DPA1 PSMB8-AS1 PRRT1 DAXX VWA7 PPT2-EGFL8 MIR219A1 HCP5 LOC100287329 TNF ABHD16A PPP1R2P1 ZBTB22 HLA-DPB2 GPSM3 HLA-DPB1 LY6G6C NELFE VPS52 STK19 BAG6 TAPBP PHF1 SNORD84 HLA-DQA2 MICB NFKBIL1 SYNGAP1 LTB MIR6832 VARS HCG23 NCR3 MSH5-SAPCD1 EHMT2 LOC100294145 COL11A2 SAPCD1-AS1 C4B TNXB KIFC1 HLA-DQB2 LST1 GPANK1 PBX2 HLA-DQA1 HSPA1A HLA-DQB1 C4A CLIC1 PSMB8 MIR6873 ATP6V1G2-DDX39B HLA-DRB6 HLA-DMB LSM2 TNXA ATP6V1G2 C6orf48 LY6G6F DDAH2 MIR6833 HLA-DRB1 MIR1236 HLA-DOB HLA-DMA CSNK2B LOC102725068 HLA-DOA LOC101929163 LY6G6D C2 DDX39B NOTCH4 EGFL8 WDR46 LOC100507547 CYP21A1P AGER LY6G6E HLA-DRA HLA-DQB1-AS1 HSPA1L ATF6B CYP21A2 LY6G5B DXO FKBPL MIR4646 MIR6721 MIR5004 CUTA NEU1 SKIV2L TAP1 LTA SNORD117 HCG24 MCCD1 SNORA38 RXRB RING1 SLC44A4 TAP2 MSH5 ZBTB9 PSMB9 LY6G5C HLA-DRB5 APOM PRRC2A RNF5 B3GALT4 AGPAT1 C6orf25 C2-AS1 SNORD52 HCG26 SLC39A7 AIF1 C6orf10 RGL2 ZBTB12 HCG25 HSPA1B BTNL2 |
dgv10403n54 | Chr.6:31312324 - 32049763 on Build GRCh38 | Loss | C6orf47 SAPCD1 LY6G6F DDAH2 CFB MIR1236 CSNK2B LOC102725068 DDX39B-AS1 LY6G6D C2 SNORD48 DDX39B MIR6891 VWA7 CYP21A1P LY6G6E HCP5 LOC100287329 TNF HSPA1L ABHD16A CYP21A2 LY6G5B DXO MIR4646 LY6G6C NELFE NEU1 STK19 SKIV2L BAG6 LTA SNORD84 SNORD117 MCCD1 MICB SNORA38 NFKBIL1 HLA-B LTB MIR6832 VARS SLC44A4 NCR3 MSH5-SAPCD1 EHMT2 MSH5 LY6G5C SAPCD1-AS1 C4B APOM TNXB PRRC2A LST1 GPANK1 C6orf25 C2-AS1 SNORD52 HCG26 HSPA1A AIF1 C4A CLIC1 ATP6V1G2-DDX39B LSM2 ZBTB12 MICA TNXA HSPA1B ATP6V1G2 C6orf48 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | C6orf47 SAPCD1 CFB RPS18 MIR3135B PPT2 PFDN6 BRD2 MIR6834 DDX39B-AS1 SNORD48 HSD17B8 HLA-DPA1 PSMB8-AS1 PRRT1 DAXX VWA7 PPT2-EGFL8 MIR219A1 HCP5 LOC100287329 TNF ABHD16A PPP1R2P1 ZBTB22 HLA-DPB2 GPSM3 HLA-DPB1 LY6G6C NELFE VPS52 STK19 BAG6 TAPBP PHF1 SNORD84 HLA-DQA2 MICB NFKBIL1 SYNGAP1 LTB MIR6832 VARS HCG23 NCR3 MSH5-SAPCD1 EHMT2 LOC100294145 COL11A2 SAPCD1-AS1 C4B TNXB KIFC1 HLA-DQB2 LST1 GPANK1 PBX2 HLA-DQA1 HSPA1A HLA-DQB1 C4A CLIC1 PSMB8 MIR6873 ATP6V1G2-DDX39B HLA-DRB6 HLA-DMB LSM2 TNXA ATP6V1G2 C6orf48 LY6G6F DDAH2 MIR6833 HLA-DRB1 MIR1236 HLA-DOB HLA-DMA CSNK2B LOC102725068 HLA-DOA LOC101929163 LY6G6D C2 DDX39B NOTCH4 EGFL8 WDR46 LOC100507547 CYP21A1P AGER LY6G6E HLA-DRA HLA-DQB1-AS1 HSPA1L ATF6B CYP21A2 LY6G5B DXO FKBPL MIR4646 MIR6721 MIR5004 CUTA NEU1 SKIV2L TAP1 LTA SNORD117 HCG24 MCCD1 SNORA38 RXRB RING1 SLC44A4 TAP2 MSH5 ZBTB9 PSMB9 LY6G5C HLA-DRB5 APOM PRRC2A RNF5 B3GALT4 AGPAT1 C6orf25 C2-AS1 SNORD52 HCG26 SLC39A7 AIF1 C6orf10 RGL2 ZBTB12 HCG25 HSPA1B BTNL2 |
nsv470809 | Chr.6:31529138 - 31576412 on Build GRCh38 | Loss | LOC100287329 ATP6V1G2-DDX39B TNF DDX39B-AS1 LTA SNORD84 SNORD117 MCCD1 ATP6V1G2 NFKBIL1 DDX39B |
dgv10404n54 | Chr.6:31312550 - 32516591 on Build GRCh38 | Loss | C6orf47 SAPCD1 LY6G6F DDAH2 CFB MIR6833 PPT2 MIR1236 CSNK2B LOC102725068 DDX39B-AS1 LOC101929163 LY6G6D C2 SNORD48 PRRT1 DDX39B NOTCH4 MIR6891 VWA7 EGFL8 LOC100507547 PPT2-EGFL8 CYP21A1P AGER LY6G6E HCP5 LOC100287329 HLA-DRA TNF HSPA1L ABHD16A ATF6B CYP21A2 LY6G5B DXO FKBPL GPSM3 MIR4646 MIR6721 LY6G6C NELFE NEU1 STK19 SKIV2L BAG6 LTA SNORD84 SNORD117 MCCD1 MICB SNORA38 NFKBIL1 HLA-B LTB MIR6832 VARS HCG23 SLC44A4 NCR3 MSH5-SAPCD1 EHMT2 MSH5 LY6G5C SAPCD1-AS1 C4B APOM TNXB PRRC2A RNF5 LST1 GPANK1 PBX2 AGPAT1 C6orf25 C2-AS1 SNORD52 HCG26 HSPA1A AIF1 C6orf10 C4A CLIC1 ATP6V1G2-DDX39B LSM2 ZBTB12 MICA TNXA HSPA1B BTNL2 ATP6V1G2 C6orf48 |
nsv830627 | Chr.6:31528437 - 31692173 on Build GRCh38 | Loss | C6orf47 BAG6 LTA SNORD84 SNORD117 MCCD1 SNORA38 NFKBIL1 LTB MIR6832 CSNK2B NCR3 DDX39B-AS1 LY6G5C APOM DDX39B PRRC2A LST1 GPANK1 AIF1 LOC100287329 ATP6V1G2-DDX39B TNF ABHD16A LY6G5B ATP6V1G2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |