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

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