Hs02342040_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31758775 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 14 - Exon 15

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			BAD93123.1
	AF034759.1			AAB87632.1
	AF048986.1			AAC62533.1
	AF070071.1			AAC70066.1
	AK097233.1
	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: Overlaps Intron 14 - Exon 15

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

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