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

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