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

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