Hs02586657_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31747370 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 9 - Exon 10

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
	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 9 - Exon 10

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
nsv819978	Chr.6:31745482 - 31753342 on Build GRCh38	Loss	MSH5-SAPCD1 MSH5
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	MIR4646 EGFL8 C2 MCCD1 LOC100287329 LTB C6orf48 CFB APOM C6orf47 ABHD16A DDX39B-AS1 C4A SNORD117 BTNL2 ATP6V1G2-DDX39B HCP5 NOTCH4 SAPCD1-AS1 HLA-DRB6 LY6G6F CLIC1 DXO HLA-DRA VARS PPT2-EGFL8 DDAH2 ZBTB12 HSPA1A MIR6833 C2-AS1 SNORD52 C6orf25 SLC44A4 LTA CYP21A2 MSH5-SAPCD1 CYP21A1P STK19 LSM2 TNF LY6G6E SNORD84 TNXB FKBPL LOC100507547 MIR1236 SNORA38 RNF5 PRRC2A GPANK1 GPSM3 CSNK2B MIR6721 AGER MICB AGPAT1 BAG6 EHMT2 HSPA1B LY6G6D HCG23 SNORD48 PPT2 MSH5 C6orf10 PRRT1 NFKBIL1 AIF1 HLA-DRB1 LOC102725068 PBX2 LOC101929163 VWA7 NCR3 LY6G6C LY6G5C SAPCD1 ATP6V1G2 NEU1 HLA-DRB5 HSPA1L SKIV2L DDX39B NELFE TNXA LST1 MIR6832 HCG26 C4B ATF6B LY6G5B
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	MIR4646 C2 MCCD1 LOC100287329 LTB C6orf48 CFB APOM C6orf47 ABHD16A DDX39B-AS1 C4A SNORD117 ATP6V1G2-DDX39B HCP5 SAPCD1-AS1 LY6G6F CLIC1 DXO VARS DDAH2 ZBTB12 HSPA1A C2-AS1 SNORD52 C6orf25 SLC44A4 MICA LTA CYP21A2 MSH5-SAPCD1 CYP21A1P STK19 LSM2 TNF LY6G6E SNORD84 TNXB MIR1236 SNORA38 PRRC2A GPANK1 CSNK2B MICB BAG6 EHMT2 HSPA1B LY6G6D SNORD48 MIR6891 MSH5 NFKBIL1 AIF1 LOC102725068 VWA7 NCR3 LY6G6C LY6G5C HLA-B SAPCD1 ATP6V1G2 NEU1 HSPA1L SKIV2L DDX39B NELFE TNXA LST1 MIR6832 HCG26 C4B LY6G5B
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	MCCD1 LOC100287329 LTB C6orf48 C6orf47 RING1 COL11A2 SNORD117 RPS18 TAPBP PFDN6 BTNL2 ATP6V1G2-DDX39B NOTCH4 SAPCD1-AS1 HLA-DRB6 LY6G6F SYNGAP1 CLIC1 DXO HSD17B8 MIR6833 C2-AS1 PSMB8 LOC100294145 C6orf25 WDR46 HLA-DQB1 LTA CYP21A2 KIFC1 CYP21A1P DAXX STK19 LSM2 HLA-DMA TNF TNXB LOC100507547 MIR6873 GPANK1 GPSM3 HLA-DPB2 AGER MICB AGPAT1 MIR219A1 MIR5004 HLA-DPB1 SLC39A7 ZBTB9 PSMB9 LY6G6D HCG23 SNORD48 PHF1 PPT2 C6orf10 PRRT1 MIR3135B NFKBIL1 LOC102725068 PBX2 ZBTB22 LY6G5C B3GALT4 ATP6V1G2 NEU1 NELFE RGL2 TNXA LST1 HLA-DOB HCG26 C4B HLA-DQB1-AS1 LY6G5B HCG25 MIR4646 EGFL8 C2 CFB APOM ABHD16A HCG24 DDX39B-AS1 BRD2 C4A HCP5 RXRB HLA-DOA HLA-DRA VARS PPT2-EGFL8 DDAH2 ZBTB12 HSPA1A SNORD52 TAP2 HLA-DPA1 SLC44A4 PPP1R2P1 MSH5-SAPCD1 HLA-DMB HLA-DQB2 LY6G6E SNORD84 FKBPL MIR1236 SNORA38 RNF5 PRRC2A CSNK2B PSMB8-AS1 MIR6721 MIR6834 BAG6 EHMT2 HSPA1B MSH5 VPS52 HLA-DQA1 AIF1 HLA-DRB1 LOC101929163 VWA7 NCR3 LY6G6C CUTA SAPCD1 HLA-DRB5 HSPA1L SKIV2L TAP1 DDX39B MIR6832 HLA-DQA2 ATF6B
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	MCCD1 LOC100287329 LTB C6orf48 C6orf47 RING1 COL11A2 SNORD117 RPS18 TAPBP PFDN6 BTNL2 ATP6V1G2-DDX39B NOTCH4 SAPCD1-AS1 HLA-DRB6 LY6G6F SYNGAP1 CLIC1 DXO HSD17B8 MIR6833 C2-AS1 PSMB8 LOC100294145 C6orf25 WDR46 HLA-DQB1 LTA CYP21A2 KIFC1 CYP21A1P DAXX STK19 LSM2 HLA-DMA TNF TNXB LOC100507547 MIR6873 GPANK1 GPSM3 HLA-DPB2 AGER MICB AGPAT1 MIR219A1 MIR5004 HLA-DPB1 SLC39A7 ZBTB9 PSMB9 LY6G6D HCG23 SNORD48 PHF1 PPT2 C6orf10 PRRT1 MIR3135B NFKBIL1 LOC102725068 PBX2 ZBTB22 LY6G5C B3GALT4 ATP6V1G2 NEU1 NELFE RGL2 TNXA LST1 HLA-DOB HCG26 C4B HLA-DQB1-AS1 LY6G5B HCG25 MIR4646 EGFL8 C2 CFB APOM ABHD16A HCG24 DDX39B-AS1 BRD2 C4A HCP5 RXRB HLA-DOA HLA-DRA VARS PPT2-EGFL8 DDAH2 ZBTB12 HSPA1A SNORD52 TAP2 HLA-DPA1 SLC44A4 PPP1R2P1 MSH5-SAPCD1 HLA-DMB HLA-DQB2 LY6G6E SNORD84 FKBPL MIR1236 SNORA38 RNF5 PRRC2A CSNK2B PSMB8-AS1 MIR6721 MIR6834 BAG6 EHMT2 HSPA1B MSH5 VPS52 HLA-DQA1 AIF1 HLA-DRB1 LOC101929163 VWA7 NCR3 LY6G6C CUTA SAPCD1 HLA-DRB5 HSPA1L SKIV2L TAP1 DDX39B MIR6832 HLA-DQA2 ATF6B
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	MIR4646 EGFL8 C2 MCCD1 LOC100287329 LTB C6orf48 CFB APOM C6orf47 ABHD16A DDX39B-AS1 C4A SNORD117 BTNL2 ATP6V1G2-DDX39B HCP5 NOTCH4 SAPCD1-AS1 LY6G6F CLIC1 DXO HLA-DRA VARS PPT2-EGFL8 DDAH2 ZBTB12 HSPA1A MIR6833 C2-AS1 SNORD52 C6orf25 SLC44A4 MICA LTA CYP21A2 MSH5-SAPCD1 CYP21A1P STK19 LSM2 TNF LY6G6E SNORD84 TNXB FKBPL LOC100507547 MIR1236 SNORA38 RNF5 PRRC2A GPANK1 GPSM3 CSNK2B MIR6721 AGER MICB AGPAT1 BAG6 EHMT2 HSPA1B LY6G6D HCG23 SNORD48 PPT2 MIR6891 MSH5 C6orf10 PRRT1 NFKBIL1 AIF1 LOC102725068 PBX2 LOC101929163 VWA7 NCR3 LY6G6C LY6G5C HLA-B SAPCD1 ATP6V1G2 NEU1 HSPA1L SKIV2L DDX39B NELFE TNXA LST1 MIR6832 HCG26 C4B ATF6B LY6G5B

More Information

• Set Membership: Intragenic, 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