Hs01374648_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31753591 on build GRCh38
• Cytoband: 6p21.33

Target Gene Details

• Entrez Gene ID: 4439
• Gene Name: mutS homolog 5
• Gene Aliases: G7, MUTSH5, NG23
• Location: Chr.6:31739948-31762678 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH5	NM_002441.4			NP_002432.1
	NM_025259.5			NP_079535.4
	NM_172165.3			NP_751897.1
	NM_172166.3			NP_751898.1
	AB209886.1			BAD93123.1
	AF034759.1			AAB87632.1
	AF048986.1			AAC62533.1
	AF070071.1			AAC70066.1
	AK303129.1
	BC001358.2			AAH01358.1
	BC002498.2			AAH02498.1
	BC041031.1			AAH41031.1
	BT007200.1			AAP35864.1

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 11 - Intron 12

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

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

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

meiotic mismatch repair
mismatch repair
chiasma assembly

Function(s)

damaged DNA binding
protein binding
ATP binding
mismatched DNA binding