Hs00757736_cn

• Gene Symbol: MSH5-SAPCD1
• Assay Reference Genome Location: Chr.6:31763461 on build GRCh38
• Cytoband: 6p21.33

Target Gene Details

• Entrez Gene ID: 100532732
• Gene Name: MSH5-SAPCD1 readthrough (NMD candidate)
• Gene Aliases: MSH5-C6orf26
• Location: Chr.6:31739948-31764850 on Build GRCh38
• Assay Gene Location: Overlaps Intron 25 - Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH5-SAPCD1	NR_037846.1
	AJ245661.1			CAB52406.1
	AL122094.1			CAB59262.1

Target Gene Details

• Entrez Gene ID: 401251
• Gene Name: suppressor APC domain containing 1
• Gene Aliases: C6orf26, NG23
• Location: Chr.6:31762996-31764850 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAPCD1	NM_001039651.1			NP_001034740.1
	BC137541.1
	BC137542.1
	BU162048.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	AGPAT1 NEU1 LY6G6E AGER LY6G6C ATP6V1G2-DDX39B ATP6V1G2 MSH5 GPSM3 PBX2 CSNK2B VARS DDAH2 C6orf48 BAG6 GPANK1 NOTCH4 C6orf10 PPT2 SNORD52 SNORD48 SLC44A4 ZBTB12 TNXA HSPA1B HCP5 HLA-DRB6 STK19 EHMT2 SNORA38 LY6G5C HCG23 CYP21A2 AIF1 C6orf47 NCR3 C2 LOC102725068 C4B BTNL2 CFB HLA-DRA LOC100507547 NFKBIL1 CLIC1 HSPA1A LTB LSM2 TNXB PPT2-EGFL8 MIR6833 ATF6B DXO PRRC2A LY6G6D LOC100287329 HLA-DRB5 VWA7 SAPCD1 C2-AS1 MIR1236 C4A RNF5 SNORD117 HLA-DRB1 C6orf25 FKBPL DDX39B MIR6832 MCCD1 MICB LST1 MSH5-SAPCD1 SKIV2L TNF EGFL8 CYP21A1P NELFE HSPA1L LTA ABHD16A LY6G5B MIR4646 PRRT1 MIR6721 SAPCD1-AS1 LY6G6F HCG26 LOC101929163 DDX39B-AS1 APOM SNORD84
esv2763547	Chr.6:31748105 - 31770701 on Build GRCh38	Loss	VWA7 SAPCD1 MSH5-SAPCD1 MSH5 SAPCD1-AS1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	MICA NEU1 LY6G6E LY6G6C ATP6V1G2-DDX39B ATP6V1G2 MSH5 CSNK2B VARS DDAH2 C6orf48 BAG6 GPANK1 SNORD52 SNORD48 SLC44A4 ZBTB12 TNXA HSPA1B HCP5 STK19 EHMT2 SNORA38 LY6G5C CYP21A2 AIF1 C6orf47 NCR3 C2 LOC102725068 C4B CFB NFKBIL1 CLIC1 HSPA1A LTB LSM2 TNXB DXO PRRC2A LY6G6D LOC100287329 VWA7 SAPCD1 C2-AS1 MIR1236 C4A SNORD117 C6orf25 DDX39B MIR6832 MCCD1 MICB LST1 MSH5-SAPCD1 SKIV2L TNF CYP21A1P NELFE HSPA1L LTA ABHD16A LY6G5B MIR4646 HLA-B MIR6891 SAPCD1-AS1 LY6G6F HCG26 DDX39B-AS1 APOM SNORD84
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	RPS18 NEU1 LY6G6E HLA-DPB2 LOC100294145 AGER LY6G6C ATP6V1G2-DDX39B PSMB9 ATP6V1G2 HLA-DQB1 HLA-DMB VARS DDAH2 BAG6 NOTCH4 HCG25 SNORD48 HCG23 RXRB RGL2 HLA-DOA HLA-DOB NCR3 BTNL2 HLA-DRA TAP2 LOC100507547 NFKBIL1 HSPA1A LTB PPT2-EGFL8 DXO VWA7 ZBTB22 C2-AS1 MIR1236 PFDN6 MIR219A1 C6orf25 MIR6832 MCCD1 MICB MSH5-SAPCD1 SKIV2L MIR3135B HLA-DQB1-AS1 HLA-DMA HLA-DPB1 EGFL8 CYP21A1P NELFE HSPA1L B3GALT4 KIFC1 MIR6873 LY6G5B MIR6721 LY6G6F APOM SNORD84 AGPAT1 MSH5 GPSM3 PBX2 CSNK2B TAP1 C6orf48 GPANK1 C6orf10 PPT2 SNORD52 HLA-DQB2 SLC44A4 COL11A2 ZBTB12 TNXA HSPA1B PPP1R2P1 DAXX HCP5 HLA-DRB6 STK19 EHMT2 SNORA38 LY6G5C PHF1 CYP21A2 MIR6834 AIF1 SLC39A7 C6orf47 TAPBP C2 PSMB8 LOC102725068 C4B SYNGAP1 ZBTB9 CFB CLIC1 LSM2 TNXB HLA-DQA1 MIR6833 RING1 ATF6B PRRC2A LY6G6D LOC100287329 MIR5004 HLA-DRB5 SAPCD1 VPS52 C4A RNF5 SNORD117 HLA-DRB1 FKBPL HLA-DPA1 DDX39B LST1 BRD2 HLA-DQA2 TNF PSMB8-AS1 HCG24 LTA ABHD16A WDR46 MIR4646 PRRT1 HSD17B8 CUTA SAPCD1-AS1 HCG26 LOC101929163 DDX39B-AS1
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	RPS18 NEU1 LY6G6E HLA-DPB2 LOC100294145 AGER LY6G6C ATP6V1G2-DDX39B PSMB9 ATP6V1G2 HLA-DQB1 HLA-DMB VARS DDAH2 BAG6 NOTCH4 HCG25 SNORD48 HCG23 RXRB RGL2 HLA-DOA HLA-DOB NCR3 BTNL2 HLA-DRA TAP2 LOC100507547 NFKBIL1 HSPA1A LTB PPT2-EGFL8 DXO VWA7 ZBTB22 C2-AS1 MIR1236 PFDN6 MIR219A1 C6orf25 MIR6832 MCCD1 MICB MSH5-SAPCD1 SKIV2L MIR3135B HLA-DQB1-AS1 HLA-DMA HLA-DPB1 EGFL8 CYP21A1P NELFE HSPA1L B3GALT4 KIFC1 MIR6873 LY6G5B MIR6721 LY6G6F APOM SNORD84 AGPAT1 MSH5 GPSM3 PBX2 CSNK2B TAP1 C6orf48 GPANK1 C6orf10 PPT2 SNORD52 HLA-DQB2 SLC44A4 COL11A2 ZBTB12 TNXA HSPA1B PPP1R2P1 DAXX HCP5 HLA-DRB6 STK19 EHMT2 SNORA38 LY6G5C PHF1 CYP21A2 MIR6834 AIF1 SLC39A7 C6orf47 TAPBP C2 PSMB8 LOC102725068 C4B SYNGAP1 ZBTB9 CFB CLIC1 LSM2 TNXB HLA-DQA1 MIR6833 RING1 ATF6B PRRC2A LY6G6D LOC100287329 MIR5004 HLA-DRB5 SAPCD1 VPS52 C4A RNF5 SNORD117 HLA-DRB1 FKBPL HLA-DPA1 DDX39B LST1 BRD2 HLA-DQA2 TNF PSMB8-AS1 HCG24 LTA ABHD16A WDR46 MIR4646 PRRT1 HSD17B8 CUTA SAPCD1-AS1 HCG26 LOC101929163 DDX39B-AS1
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	MICA AGPAT1 NEU1 LY6G6E AGER LY6G6C ATP6V1G2-DDX39B ATP6V1G2 MSH5 GPSM3 PBX2 CSNK2B VARS DDAH2 C6orf48 BAG6 GPANK1 NOTCH4 C6orf10 PPT2 SNORD52 SNORD48 SLC44A4 ZBTB12 TNXA HSPA1B HCP5 STK19 EHMT2 SNORA38 LY6G5C HCG23 CYP21A2 AIF1 C6orf47 NCR3 C2 LOC102725068 C4B BTNL2 CFB HLA-DRA LOC100507547 NFKBIL1 CLIC1 HSPA1A LTB LSM2 TNXB PPT2-EGFL8 MIR6833 ATF6B DXO PRRC2A LY6G6D LOC100287329 VWA7 SAPCD1 C2-AS1 MIR1236 C4A RNF5 SNORD117 C6orf25 FKBPL DDX39B MIR6832 MCCD1 MICB LST1 MSH5-SAPCD1 SKIV2L TNF EGFL8 CYP21A1P NELFE HSPA1L LTA ABHD16A LY6G5B MIR4646 HLA-B PRRT1 MIR6891 MIR6721 SAPCD1-AS1 LY6G6F HCG26 LOC101929163 DDX39B-AS1 APOM SNORD84

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein