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

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