Hs04918959_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31745379 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: Within Intron 9

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: Within Intron 9

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

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