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

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