Hs02946055_cn

• Gene Symbol: ATP6V1G2-DDX39B
• Assay Reference Genome Location: Chr.6:31532782 on build GRCh38
• Cytoband: 6p21.33

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: Overlaps Intron 9 - Exon 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: Overlaps Intron 7 - Exon 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
	AK127767.1	5	4791
	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	LOC100287329 PSORS1C1 DDX39B ATP6V1G2 SNORD84 MCCD1 CCHCR1 TCF19 MIR6891 LTA C6orf15 ATP6V1G2-DDX39B SNORD117 MICB HLA-C PSORS1C2 HCP5 CDSN LOC102725068 NFKBIL1 HCG26 POU5F1 HCG27 HLA-B MICA DDX39B-AS1 PSORS1C3
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	LOC100287329 LY6G5B LY6G6F GPANK1 PRRT1 PPT2-EGFL8 SNORA38 GPSM3 AGPAT1 AIF1 CFB CLIC1 C2 C6orf10 LOC101929163 ATP6V1G2 LST1 TNXB MIR6833 LTA HLA-DRB6 ATF6B SNORD117 MSH5-SAPCD1 C6orf48 AGER MIR6832 NOTCH4 HSPA1L LY6G6D SNORD52 HSPA1A C2-AS1 ZBTB12 BTNL2 ABHD16A SLC44A4 CYP21A1P CYP21A2 C4B SAPCD1-AS1 LOC102725068 C6orf47 FKBPL STK19 VWA7 MIR1236 LY6G6C LY6G6E PBX2 LY6G5C VARS HCG23 APOM NELFE DXO CSNK2B DDAH2 DDX39B NCR3 TNXA SAPCD1 BAG6 NEU1 SNORD84 HLA-DRB5 MCCD1 RNF5 LSM2 ATP6V1G2-DDX39B HLA-DRB1 EGFL8 HSPA1B MICB MSH5 EHMT2 HCP5 MIR6721 SNORD48 LTB C4A C6orf25 HLA-DRA NFKBIL1 PPT2 HCG26 TNF MIR4646 PRRC2A SKIV2L DDX39B-AS1 LOC100507547
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	LY6G6F GPANK1 SLC39A7 PRRT1 PPT2-EGFL8 SNORA38 HCG25 GPSM3 HLA-DMA CFB C6orf10 LOC101929163 TNXB HLA-DPB1 MIR6833 HCG24 DAXX HLA-DRB6 SNORD117 TAP1 MSH5-SAPCD1 C6orf48 MIR6832 NOTCH4 HSPA1L SNORD52 ZBTB12 BTNL2 ABHD16A CYP21A1P LOC100294145 CYP21A2 C4B SAPCD1-AS1 LOC102725068 C6orf47 SYNGAP1 MIR6873 STK19 VWA7 LY6G6E HLA-DMB PBX2 LY6G5C VARS APOM NELFE DXO HLA-DPA1 HLA-DOA HLA-DQB1-AS1 NEU1 SNORD84 RNF5 HSPA1B MSH5 ZBTB9 HCP5 SNORD48 MIR219A1 LTB C4A WDR46 PPT2 HSD17B8 PRRC2A LOC100507547 LOC100287329 LY6G5B HLA-DQA2 PSMB8 HLA-DQB1 AGPAT1 AIF1 COL11A2 CLIC1 RGL2 C2 RING1 PFDN6 RXRB ATP6V1G2 LST1 HLA-DQB2 PSMB9 PSMB8-AS1 LTA ATF6B B3GALT4 AGER LY6G6D HSPA1A C2-AS1 SLC44A4 TAPBP KIFC1 FKBPL PHF1 MIR1236 VPS52 LY6G6C MIR6834 RPS18 HCG23 CSNK2B DDAH2 DDX39B BRD2 NCR3 HLA-DPB2 CUTA MIR5004 TNXA SAPCD1 BAG6 HLA-DRB5 MCCD1 HLA-DOB MIR3135B LSM2 ATP6V1G2-DDX39B HLA-DRB1 EGFL8 MICB EHMT2 MIR6721 TAP2 HLA-DQA1 C6orf25 HLA-DRA NFKBIL1 HCG26 TNF MIR4646 PPP1R2P1 SKIV2L DDX39B-AS1 ZBTB22
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	LOC100287329 LY6G5B LY6G6F GPANK1 SNORA38 AIF1 CFB CLIC1 C2 ATP6V1G2 LST1 TNXB LTA SNORD117 MSH5-SAPCD1 C6orf48 MIR6832 HSPA1L LY6G6D SNORD52 HSPA1A C2-AS1 ZBTB12 ABHD16A SLC44A4 CYP21A1P CYP21A2 C4B SAPCD1-AS1 LOC102725068 C6orf47 STK19 VWA7 MIR1236 LY6G6C LY6G6E HLA-B LY6G5C VARS APOM NELFE DXO CSNK2B DDAH2 DDX39B NCR3 TNXA SAPCD1 BAG6 NEU1 SNORD84 MCCD1 MIR6891 LSM2 ATP6V1G2-DDX39B HSPA1B MICB MSH5 EHMT2 HCP5 SNORD48 LTB C4A C6orf25 NFKBIL1 HCG26 TNF MIR4646 MICA PRRC2A SKIV2L DDX39B-AS1
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	LY6G6F GPANK1 SLC39A7 PRRT1 PPT2-EGFL8 SNORA38 HCG25 GPSM3 HLA-DMA CFB C6orf10 LOC101929163 TNXB HLA-DPB1 MIR6833 HCG24 DAXX HLA-DRB6 SNORD117 TAP1 MSH5-SAPCD1 C6orf48 MIR6832 NOTCH4 HSPA1L SNORD52 ZBTB12 BTNL2 ABHD16A CYP21A1P LOC100294145 CYP21A2 C4B SAPCD1-AS1 LOC102725068 C6orf47 SYNGAP1 MIR6873 STK19 VWA7 LY6G6E HLA-DMB PBX2 LY6G5C VARS APOM NELFE DXO HLA-DPA1 HLA-DOA HLA-DQB1-AS1 NEU1 SNORD84 RNF5 HSPA1B MSH5 ZBTB9 HCP5 SNORD48 MIR219A1 LTB C4A WDR46 PPT2 HSD17B8 PRRC2A LOC100507547 LOC100287329 LY6G5B HLA-DQA2 PSMB8 HLA-DQB1 AGPAT1 AIF1 COL11A2 CLIC1 RGL2 C2 RING1 PFDN6 RXRB ATP6V1G2 LST1 HLA-DQB2 PSMB9 PSMB8-AS1 LTA ATF6B B3GALT4 AGER LY6G6D HSPA1A C2-AS1 SLC44A4 TAPBP KIFC1 FKBPL PHF1 MIR1236 VPS52 LY6G6C MIR6834 RPS18 HCG23 CSNK2B DDAH2 DDX39B BRD2 NCR3 HLA-DPB2 CUTA MIR5004 TNXA SAPCD1 BAG6 HLA-DRB5 MCCD1 HLA-DOB MIR3135B LSM2 ATP6V1G2-DDX39B HLA-DRB1 EGFL8 MICB EHMT2 MIR6721 TAP2 HLA-DQA1 C6orf25 HLA-DRA NFKBIL1 HCG26 TNF MIR4646 PPP1R2P1 SKIV2L DDX39B-AS1 ZBTB22
nsv470809	Chr.6:31529138 - 31576412 on Build GRCh38	Loss	LOC100287329 NFKBIL1 ATP6V1G2 SNORD84 MCCD1 DDX39B LTA TNF ATP6V1G2-DDX39B SNORD117 DDX39B-AS1
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	LOC100287329 LY6G5B LY6G6F GPANK1 PRRT1 PPT2-EGFL8 SNORA38 GPSM3 AGPAT1 AIF1 CFB CLIC1 C2 C6orf10 LOC101929163 ATP6V1G2 LST1 TNXB MIR6833 LTA ATF6B SNORD117 MSH5-SAPCD1 C6orf48 AGER MIR6832 NOTCH4 HSPA1L LY6G6D SNORD52 HSPA1A C2-AS1 ZBTB12 BTNL2 ABHD16A SLC44A4 CYP21A1P CYP21A2 C4B SAPCD1-AS1 LOC102725068 C6orf47 FKBPL STK19 VWA7 MIR1236 LY6G6C LY6G6E HLA-B PBX2 LY6G5C VARS HCG23 APOM NELFE DXO CSNK2B DDAH2 DDX39B NCR3 TNXA SAPCD1 BAG6 NEU1 SNORD84 MCCD1 RNF5 MIR6891 LSM2 ATP6V1G2-DDX39B EGFL8 HSPA1B MICB MSH5 EHMT2 HCP5 MIR6721 SNORD48 LTB C4A C6orf25 HLA-DRA NFKBIL1 PPT2 HCG26 TNF MIR4646 MICA PRRC2A SKIV2L DDX39B-AS1 LOC100507547
nsv830627	Chr.6:31528437 - 31692173 on Build GRCh38	Loss	LOC100287329 LY6G5B GPANK1 LY6G5C SNORA38 APOM CSNK2B DDX39B AIF1 NCR3 BAG6 ATP6V1G2 SNORD84 LST1 MCCD1 LTA ATP6V1G2-DDX39B SNORD117 MIR6832 ABHD16A LTB NFKBIL1 C6orf47 TNF PRRC2A DDX39B-AS1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spliceosomal complex assembly
mRNA splicing, via spliceosome
liver development
termination of RNA polymerase II transcription
RNA export from nucleus
mRNA export from nucleus
RNA splicing
RNA secondary structure unwinding
mRNA 3'-end processing
positive regulation of DNA-templated transcription, elongation
positive regulation of translation
viral mRNA export from host cell nucleus
positive regulation of cell growth involved in cardiac muscle cell development
positive regulation of vascular smooth muscle cell proliferation
negative regulation of DNA damage checkpoint
positive regulation of DNA biosynthetic process

Function(s)

ATP-dependent RNA helicase activity
protein binding
ATP binding
RNA-dependent ATPase activity
ATPase activity
U6 snRNA binding
U4 snRNA binding
protein complex binding
ATP-dependent protein binding
poly(A) RNA binding