Hs03602526_cn

• Gene Symbol: ATP6V1G2-DDX39B
• Assay Reference Genome Location: Chr.6:31533868 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: 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	3705
	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	MICB CDSN HCG26 MIR6891 LTA LOC102725068 PSORS1C2 LOC100287329 HLA-B NFKBIL1 CCHCR1 DDX39B MCCD1 HCG27 PSORS1C1 PSORS1C3 SNORD117 ATP6V1G2 C6orf15 HLA-C POU5F1 ATP6V1G2-DDX39B DDX39B-AS1 MICA SNORD84 TCF19 HCP5
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	LY6G6C EGFL8 DDAH2 C2-AS1 MSH5 SNORA38 FKBPL LOC101929163 DXO LTB NCR3 LOC100287329 TNXB PPT2 BTNL2 PPT2-EGFL8 C6orf47 C4B SKIV2L LY6G6E HLA-DRB6 MCCD1 MSH5-SAPCD1 C6orf10 CFB HSPA1A AGPAT1 BAG6 PRRC2A SNORD117 ATP6V1G2 MIR6721 CSNK2B C2 ATF6B LY6G6D LY6G5C HLA-DRB5 SNORD84 C6orf48 HCP5 HSPA1B MICB TNF LOC100507547 RNF5 STK19 LY6G5B HCG26 LTA LOC102725068 NELFE NFKBIL1 SNORD48 SLC44A4 HCG23 MIR1236 SAPCD1 HLA-DRB1 C4A DDX39B EHMT2 LY6G6F PRRT1 HSPA1L MIR4646 SNORD52 NOTCH4 TNXA AIF1 MIR6832 APOM LST1 GPSM3 NEU1 VARS CYP21A1P CLIC1 C6orf25 VWA7 HLA-DRA MIR6833 GPANK1 ZBTB12 ABHD16A ATP6V1G2-DDX39B LSM2 DDX39B-AS1 AGER PBX2 SAPCD1-AS1 CYP21A2
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	LY6G6C DDAH2 C2-AS1 MSH5 SNORA38 DXO LTB NCR3 LOC100287329 TNXB C6orf47 C4B SKIV2L LY6G6E MCCD1 MSH5-SAPCD1 CFB HSPA1A BAG6 PRRC2A SNORD117 ATP6V1G2 CSNK2B C2 LY6G6D LY6G5C MICA SNORD84 C6orf48 HCP5 HSPA1B MICB TNF STK19 LY6G5B HCG26 MIR6891 LTA LOC102725068 NELFE HLA-B NFKBIL1 SNORD48 SLC44A4 MIR1236 SAPCD1 C4A DDX39B EHMT2 LY6G6F HSPA1L MIR4646 SNORD52 TNXA AIF1 MIR6832 APOM LST1 NEU1 VARS CYP21A1P CLIC1 C6orf25 VWA7 GPANK1 ZBTB12 ABHD16A ATP6V1G2-DDX39B LSM2 DDX39B-AS1 SAPCD1-AS1 CYP21A2
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	EGFL8 RING1 DDAH2 C2-AS1 MSH5 RGL2 TAP2 DXO HLA-DPA1 LTB HLA-DQB1-AS1 WDR46 NCR3 LOC100287329 BTNL2 HCG25 MSH5-SAPCD1 C6orf10 HLA-DMA RXRB HLA-DQA2 HSPA1A SYNGAP1 AGPAT1 BAG6 HLA-DPB2 PRRC2A ATP6V1G2 CSNK2B C2 KIFC1 ATF6B LY6G5C HLA-DRB5 PFDN6 SNORD84 HCP5 HSPA1B LOC100507547 HLA-DQA1 RNF5 HCG26 ZBTB9 LOC102725068 PSMB8-AS1 NFKBIL1 SLC44A4 BRD2 MIR1236 B3GALT4 PSMB8 PRRT1 HSPA1L MIR4646 COL11A2 MIR6832 HLA-DMB APOM LST1 NEU1 VARS CYP21A1P PPP1R2P1 MIR6833 HLA-DQB1 GPANK1 ABHD16A HLA-DOA LSM2 ZBTB22 AGER LY6G6C PSMB9 SNORA38 FKBPL LOC101929163 HCG24 TNXB PPT2 PPT2-EGFL8 C6orf47 C4B SKIV2L LY6G6E HLA-DRB6 MCCD1 CFB HLA-DOB HLA-DQB2 CUTA HSD17B8 MIR6834 DAXX SNORD117 MIR6721 TAP1 LY6G6D RPS18 VPS52 C6orf48 PHF1 HLA-DPB1 MICB TNF STK19 LY6G5B LTA NELFE SNORD48 HCG23 TAPBP SAPCD1 HLA-DRB1 C4A DDX39B EHMT2 LY6G6F LOC100294145 SNORD52 NOTCH4 TNXA AIF1 GPSM3 SLC39A7 CLIC1 C6orf25 VWA7 HLA-DRA ZBTB12 MIR219A1 ATP6V1G2-DDX39B DDX39B-AS1 PBX2 MIR6873 MIR3135B MIR5004 SAPCD1-AS1 CYP21A2
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	EGFL8 RING1 DDAH2 C2-AS1 MSH5 RGL2 TAP2 DXO HLA-DPA1 LTB HLA-DQB1-AS1 WDR46 NCR3 LOC100287329 BTNL2 HCG25 MSH5-SAPCD1 C6orf10 HLA-DMA RXRB HLA-DQA2 HSPA1A SYNGAP1 AGPAT1 BAG6 HLA-DPB2 PRRC2A ATP6V1G2 CSNK2B C2 KIFC1 ATF6B LY6G5C HLA-DRB5 PFDN6 SNORD84 HCP5 HSPA1B LOC100507547 HLA-DQA1 RNF5 HCG26 ZBTB9 LOC102725068 PSMB8-AS1 NFKBIL1 SLC44A4 BRD2 MIR1236 B3GALT4 PSMB8 PRRT1 HSPA1L MIR4646 COL11A2 MIR6832 HLA-DMB APOM LST1 NEU1 VARS CYP21A1P PPP1R2P1 MIR6833 HLA-DQB1 GPANK1 ABHD16A HLA-DOA LSM2 ZBTB22 AGER LY6G6C PSMB9 SNORA38 FKBPL LOC101929163 HCG24 TNXB PPT2 PPT2-EGFL8 C6orf47 C4B SKIV2L LY6G6E HLA-DRB6 MCCD1 CFB HLA-DOB HLA-DQB2 CUTA HSD17B8 MIR6834 DAXX SNORD117 MIR6721 TAP1 LY6G6D RPS18 VPS52 C6orf48 PHF1 HLA-DPB1 MICB TNF STK19 LY6G5B LTA NELFE SNORD48 HCG23 TAPBP SAPCD1 HLA-DRB1 C4A DDX39B EHMT2 LY6G6F LOC100294145 SNORD52 NOTCH4 TNXA AIF1 GPSM3 SLC39A7 CLIC1 C6orf25 VWA7 HLA-DRA ZBTB12 MIR219A1 ATP6V1G2-DDX39B DDX39B-AS1 PBX2 MIR6873 MIR3135B MIR5004 SAPCD1-AS1 CYP21A2
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	LY6G6C EGFL8 DDAH2 C2-AS1 MSH5 SNORA38 FKBPL LOC101929163 DXO LTB NCR3 LOC100287329 TNXB PPT2 BTNL2 PPT2-EGFL8 C6orf47 C4B SKIV2L LY6G6E MCCD1 MSH5-SAPCD1 C6orf10 CFB HSPA1A AGPAT1 BAG6 PRRC2A SNORD117 ATP6V1G2 MIR6721 CSNK2B C2 ATF6B LY6G6D LY6G5C MICA SNORD84 C6orf48 HCP5 HSPA1B MICB TNF LOC100507547 RNF5 STK19 LY6G5B HCG26 MIR6891 LTA LOC102725068 NELFE HLA-B NFKBIL1 SNORD48 SLC44A4 HCG23 MIR1236 SAPCD1 C4A DDX39B EHMT2 LY6G6F PRRT1 HSPA1L MIR4646 SNORD52 NOTCH4 TNXA AIF1 MIR6832 APOM LST1 GPSM3 NEU1 VARS CYP21A1P CLIC1 C6orf25 VWA7 HLA-DRA MIR6833 GPANK1 ZBTB12 ABHD16A ATP6V1G2-DDX39B LSM2 DDX39B-AS1 AGER PBX2 SAPCD1-AS1 CYP21A2
nsv470809	Chr.6:31529138 - 31576412 on Build GRCh38	Loss	NFKBIL1 TNF ATP6V1G2-DDX39B DDX39B-AS1 SNORD84 LTA DDX39B SNORD117 ATP6V1G2 MCCD1 LOC100287329
nsv830627	Chr.6:31528437 - 31692173 on Build GRCh38	Loss	SNORA38 TNF LY6G5B LTB LTA NCR3 LOC100287329 NFKBIL1 C6orf47 DDX39B MCCD1 BAG6 PRRC2A AIF1 MIR6832 APOM LST1 SNORD117 ATP6V1G2 CSNK2B GPANK1 LY6G5C ABHD16A ATP6V1G2-DDX39B DDX39B-AS1 SNORD84

More Information

Additional Information:

For this assay, SNP(s) [rs114910910] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, 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