Hs06745700_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31750032 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 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
	AB209886.1	1	556	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: Within Intron 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	HLA-DRB5 MICB C2 HSPA1B LOC100287329 MIR6832 SLC44A4 LY6G6C NELFE LOC102725068 ATF6B HLA-DRA LOC101929163 PBX2 MIR1236 MSH5-SAPCD1 C6orf25 HLA-DRB6 SNORD84 PRRT1 DDX39B-AS1 ATP6V1G2-DDX39B SNORD52 LOC100507547 DXO EGFL8 DDAH2 FKBPL GPSM3 NFKBIL1 VWA7 MCCD1 SNORD48 LY6G6D MSH5 NEU1 LTA HSPA1A CYP21A2 LY6G5C C4B APOM TNXA LTB GPANK1 C6orf10 LY6G6F HSPA1L CSNK2B HCG26 SAPCD1-AS1 SNORD117 ZBTB12 STK19 CLIC1 HCP5 LSM2 SKIV2L SNORA38 HCG23 CYP21A1P MIR6833 LY6G6E BAG6 MIR4646 HLA-DRB1 AGER EHMT2 MIR6721 LY6G5B PRRC2A C2-AS1 PPT2 DDX39B PPT2-EGFL8 RNF5 BTNL2 C4A SAPCD1 NCR3 ABHD16A NOTCH4 CFB AIF1 TNF C6orf48 TNXB C6orf47 AGPAT1 VARS ATP6V1G2 LST1
esv2763547	Chr.6:31748105 - 31770701 on Build GRCh38	Loss	VWA7 MSH5-SAPCD1 SAPCD1-AS1 SAPCD1 MSH5
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	C2 HSPA1B LOC100287329 MIR6832 SLC44A4 NELFE ZBTB22 LOC102725068 ATF6B LOC101929163 MIR1236 BRD2 PFDN6 SNORD84 B3GALT4 HLA-DQB1 LOC100507547 FKBPL GPSM3 NFKBIL1 DAXX VWA7 MIR219A1 MCCD1 PSMB8 SNORD48 WDR46 HLA-DMA LY6G5C HCG24 C6orf10 HLA-DPA1 SYNGAP1 SNORD117 RGL2 CLIC1 LSM2 SNORA38 CYP21A1P MIR6834 MIR6833 PPP1R2P1 HLA-DRB1 AGER EHMT2 MIR6721 CUTA LY6G5B PRRC2A PPT2 PSMB9 HLA-DQB2 DDX39B SLC39A7 PPT2-EGFL8 BTNL2 C4A SAPCD1 ABHD16A RXRB CFB AIF1 TNF TAP1 C6orf48 TNXB C6orf47 AGPAT1 VARS MIR5004 LST1 HLA-DRB5 LOC100294145 MICB HLA-DOA HCG25 LY6G6C HLA-DQA1 HLA-DPB2 HLA-DRA PSMB8-AS1 PBX2 MSH5-SAPCD1 C6orf25 HLA-DRB6 PRRT1 DDX39B-AS1 ATP6V1G2-DDX39B SNORD52 HSD17B8 DXO EGFL8 DDAH2 PHF1 VPS52 RING1 LY6G6D MSH5 NEU1 LTA HSPA1A CYP21A2 C4B APOM TNXA TAP2 LTB GPANK1 LY6G6F HSPA1L CSNK2B HCG26 SAPCD1-AS1 ZBTB12 ZBTB9 STK19 COL11A2 HLA-DQB1-AS1 HCP5 MIR3135B SKIV2L RPS18 HCG23 LY6G6E BAG6 KIFC1 MIR4646 C2-AS1 HLA-DQA2 RNF5 HLA-DPB1 NCR3 NOTCH4 HLA-DOB HLA-DMB MIR6873 ATP6V1G2 TAPBP
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	MICB C2 HSPA1B LOC100287329 MIR6832 SLC44A4 LY6G6C NELFE LOC102725068 MIR1236 MSH5-SAPCD1 C6orf25 SNORD84 DDX39B-AS1 ATP6V1G2-DDX39B SNORD52 DXO DDAH2 NFKBIL1 VWA7 MCCD1 SNORD48 LY6G6D MSH5 NEU1 LTA HSPA1A CYP21A2 LY6G5C C4B APOM TNXA LTB GPANK1 LY6G6F MICA HSPA1L CSNK2B HCG26 SAPCD1-AS1 SNORD117 ZBTB12 STK19 CLIC1 HCP5 LSM2 SKIV2L SNORA38 MIR6891 CYP21A1P LY6G6E BAG6 MIR4646 EHMT2 LY6G5B PRRC2A HLA-B C2-AS1 DDX39B C4A SAPCD1 NCR3 ABHD16A CFB AIF1 TNF C6orf48 TNXB C6orf47 VARS ATP6V1G2 LST1
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	C2 HSPA1B LOC100287329 MIR6832 SLC44A4 NELFE ZBTB22 LOC102725068 ATF6B LOC101929163 MIR1236 BRD2 PFDN6 SNORD84 B3GALT4 HLA-DQB1 LOC100507547 FKBPL GPSM3 NFKBIL1 DAXX VWA7 MIR219A1 MCCD1 PSMB8 SNORD48 WDR46 HLA-DMA LY6G5C HCG24 C6orf10 HLA-DPA1 SYNGAP1 SNORD117 RGL2 CLIC1 LSM2 SNORA38 CYP21A1P MIR6834 MIR6833 PPP1R2P1 HLA-DRB1 AGER EHMT2 MIR6721 CUTA LY6G5B PRRC2A PPT2 PSMB9 HLA-DQB2 DDX39B SLC39A7 PPT2-EGFL8 BTNL2 C4A SAPCD1 ABHD16A RXRB CFB AIF1 TNF TAP1 C6orf48 TNXB C6orf47 AGPAT1 VARS MIR5004 LST1 HLA-DRB5 LOC100294145 MICB HLA-DOA HCG25 LY6G6C HLA-DQA1 HLA-DPB2 HLA-DRA PSMB8-AS1 PBX2 MSH5-SAPCD1 C6orf25 HLA-DRB6 PRRT1 DDX39B-AS1 ATP6V1G2-DDX39B SNORD52 HSD17B8 DXO EGFL8 DDAH2 PHF1 VPS52 RING1 LY6G6D MSH5 NEU1 LTA HSPA1A CYP21A2 C4B APOM TNXA TAP2 LTB GPANK1 LY6G6F HSPA1L CSNK2B HCG26 SAPCD1-AS1 ZBTB12 ZBTB9 STK19 COL11A2 HLA-DQB1-AS1 HCP5 MIR3135B SKIV2L RPS18 HCG23 LY6G6E BAG6 KIFC1 MIR4646 C2-AS1 HLA-DQA2 RNF5 HLA-DPB1 NCR3 NOTCH4 HLA-DOB HLA-DMB MIR6873 ATP6V1G2 TAPBP
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	MICB C2 HSPA1B LOC100287329 MIR6832 SLC44A4 LY6G6C NELFE LOC102725068 ATF6B HLA-DRA LOC101929163 PBX2 MIR1236 MSH5-SAPCD1 C6orf25 SNORD84 PRRT1 DDX39B-AS1 ATP6V1G2-DDX39B SNORD52 LOC100507547 DXO EGFL8 DDAH2 FKBPL GPSM3 NFKBIL1 VWA7 MCCD1 SNORD48 LY6G6D MSH5 NEU1 LTA HSPA1A CYP21A2 LY6G5C C4B APOM TNXA LTB GPANK1 C6orf10 LY6G6F MICA HSPA1L CSNK2B HCG26 SAPCD1-AS1 SNORD117 ZBTB12 STK19 CLIC1 HCP5 LSM2 SKIV2L SNORA38 MIR6891 HCG23 CYP21A1P MIR6833 LY6G6E BAG6 MIR4646 AGER EHMT2 MIR6721 LY6G5B PRRC2A HLA-B C2-AS1 PPT2 DDX39B PPT2-EGFL8 RNF5 BTNL2 C4A SAPCD1 NCR3 ABHD16A NOTCH4 CFB AIF1 TNF C6orf48 TNXB C6orf47 AGPAT1 VARS ATP6V1G2 LST1

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