Hs06801990_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31744514 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 7 - Exon 8

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
	AK304221.1
	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 7 - Exon 8

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

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