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

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