Hs02652853_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31740450 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 1 - Exon 2

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
	AK304221.1
	BC001358.2			AAH01358.1
	BC002498.2			AAH02498.1
	BC041031.1			AAH41031.1
	BG719397.1
	BT007200.1			AAP35864.1
	CB155199.1
	DB448226.1

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 1 - Exon 2

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

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