Hs02586657_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31747370 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 9 - Exon 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
	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: Overlaps Intron 9 - Exon 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	C6orf47 AGPAT1 HSPA1B SNORD48 C6orf25 BTNL2 CFB PRRC2A LY6G6C ZBTB12 LST1 DDX39B PPT2-EGFL8 LY6G5C C4B NOTCH4 MIR6721 C2 DDAH2 LY6G6D ATF6B AIF1 MIR4646 CYP21A2 MIR6833 SNORD52 LY6G5B LOC100287329 EGFL8 LY6G6E HCG26 C6orf48 DDX39B-AS1 MICB MIR1236 HSPA1L HLA-DRB1 LOC100507547 SNORA38 TNF CSNK2B LY6G6F C2-AS1 HSPA1A VARS HCP5 NEU1 SLC44A4 C6orf10 CYP21A1P SAPCD1 EHMT2 LOC101929163 LTA NELFE C4A NFKBIL1 HLA-DRB6 ATP6V1G2-DDX39B CLIC1 MSH5-SAPCD1 HCG23 LSM2 MCCD1 PBX2 HLA-DRA MIR6832 SKIV2L SAPCD1-AS1 APOM VWA7 ABHD16A TNXA TNXB PPT2 ATP6V1G2 GPSM3 LTB LOC102725068 STK19 HLA-DRB5 RNF5 AGER SNORD117 BAG6 DXO GPANK1 PRRT1 NCR3 SNORD84 FKBPL MSH5
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	AGPAT1 HSPA1B BTNL2 HLA-DQB1-AS1 WDR46 LY6G6C RXRB DDX39B PPT2-EGFL8 LY6G5C MIR6873 C4B LOC100294145 NOTCH4 HLA-DMB LY6G6D AIF1 HLA-DPB2 HLA-DMA MIR6833 SNORD52 DAXX LY6G5B LOC100287329 EGFL8 BRD2 HCG26 C6orf48 DDX39B-AS1 MIR1236 HSPA1L HLA-DRB1 SNORA38 VPS52 CSNK2B PSMB9 HSPA1A HLA-DPB1 HCP5 CYP21A1P EHMT2 LTA C4A NFKBIL1 HLA-DRB6 ATP6V1G2-DDX39B CLIC1 MIR6834 MSH5-SAPCD1 HCG23 LSM2 MIR6832 PPP1R2P1 SKIV2L SAPCD1-AS1 TAP2 SLC39A7 TNXA TNXB HLA-DQA1 PSMB8-AS1 PPT2 HLA-DRB5 TAPBP RNF5 SNORD117 BAG6 HCG24 GPANK1 PRRT1 NCR3 MIR5004 SNORD84 MSH5 C6orf47 SNORD48 C6orf25 CFB PRRC2A B3GALT4 ZBTB12 LST1 HLA-DOA MIR219A1 HSD17B8 MIR6721 CUTA PSMB8 C2 DDAH2 TAP1 ATF6B MIR4646 CYP21A2 MIR3135B LY6G6E MICB LOC100507547 TNF LY6G6F ZBTB22 C2-AS1 VARS HLA-DOB ZBTB9 NEU1 SLC44A4 C6orf10 SAPCD1 LOC101929163 RGL2 NELFE KIFC1 HLA-DQA2 RING1 MCCD1 HLA-DPA1 PBX2 HLA-DRA COL11A2 APOM VWA7 ABHD16A HLA-DQB2 PHF1 ATP6V1G2 GPSM3 LTB LOC102725068 STK19 HCG25 AGER SYNGAP1 RPS18 DXO HLA-DQB1 FKBPL PFDN6
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	C6orf47 HSPA1B SNORD48 C6orf25 CFB PRRC2A LY6G6C ZBTB12 LST1 DDX39B LY6G5C C4B C2 DDAH2 LY6G6D AIF1 MIR4646 CYP21A2 SNORD52 LY6G5B LOC100287329 LY6G6E HCG26 C6orf48 DDX39B-AS1 MICB MIR1236 HSPA1L SNORA38 TNF CSNK2B LY6G6F C2-AS1 HSPA1A VARS HCP5 NEU1 SLC44A4 CYP21A1P SAPCD1 MICA EHMT2 LTA NELFE C4A NFKBIL1 ATP6V1G2-DDX39B CLIC1 MSH5-SAPCD1 LSM2 MCCD1 MIR6832 SKIV2L SAPCD1-AS1 APOM VWA7 ABHD16A TNXA TNXB HLA-B ATP6V1G2 LTB LOC102725068 STK19 MIR6891 SNORD117 BAG6 DXO GPANK1 NCR3 SNORD84 MSH5
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	AGPAT1 HSPA1B BTNL2 HLA-DQB1-AS1 WDR46 LY6G6C RXRB DDX39B PPT2-EGFL8 LY6G5C MIR6873 C4B LOC100294145 NOTCH4 HLA-DMB LY6G6D AIF1 HLA-DPB2 HLA-DMA MIR6833 SNORD52 DAXX LY6G5B LOC100287329 EGFL8 BRD2 HCG26 C6orf48 DDX39B-AS1 MIR1236 HSPA1L HLA-DRB1 SNORA38 VPS52 CSNK2B PSMB9 HSPA1A HLA-DPB1 HCP5 CYP21A1P EHMT2 LTA C4A NFKBIL1 HLA-DRB6 ATP6V1G2-DDX39B CLIC1 MIR6834 MSH5-SAPCD1 HCG23 LSM2 MIR6832 PPP1R2P1 SKIV2L SAPCD1-AS1 TAP2 SLC39A7 TNXA TNXB HLA-DQA1 PSMB8-AS1 PPT2 HLA-DRB5 TAPBP RNF5 SNORD117 BAG6 HCG24 GPANK1 PRRT1 NCR3 MIR5004 SNORD84 MSH5 C6orf47 SNORD48 C6orf25 CFB PRRC2A B3GALT4 ZBTB12 LST1 HLA-DOA MIR219A1 HSD17B8 MIR6721 CUTA PSMB8 C2 DDAH2 TAP1 ATF6B MIR4646 CYP21A2 MIR3135B LY6G6E MICB LOC100507547 TNF LY6G6F ZBTB22 C2-AS1 VARS HLA-DOB ZBTB9 NEU1 SLC44A4 C6orf10 SAPCD1 LOC101929163 RGL2 NELFE KIFC1 HLA-DQA2 RING1 MCCD1 HLA-DPA1 PBX2 HLA-DRA COL11A2 APOM VWA7 ABHD16A HLA-DQB2 PHF1 ATP6V1G2 GPSM3 LTB LOC102725068 STK19 HCG25 AGER SYNGAP1 RPS18 DXO HLA-DQB1 FKBPL PFDN6
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	C6orf47 AGPAT1 HSPA1B SNORD48 C6orf25 BTNL2 CFB PRRC2A LY6G6C ZBTB12 LST1 DDX39B PPT2-EGFL8 LY6G5C C4B NOTCH4 MIR6721 C2 DDAH2 LY6G6D ATF6B AIF1 MIR4646 CYP21A2 MIR6833 SNORD52 LY6G5B LOC100287329 EGFL8 LY6G6E HCG26 C6orf48 DDX39B-AS1 MICB MIR1236 HSPA1L LOC100507547 SNORA38 TNF CSNK2B LY6G6F C2-AS1 HSPA1A VARS HCP5 NEU1 SLC44A4 C6orf10 CYP21A1P SAPCD1 MICA EHMT2 LOC101929163 LTA NELFE C4A NFKBIL1 ATP6V1G2-DDX39B CLIC1 MSH5-SAPCD1 HCG23 LSM2 MCCD1 PBX2 HLA-DRA MIR6832 SKIV2L SAPCD1-AS1 APOM VWA7 ABHD16A TNXA TNXB HLA-B PPT2 ATP6V1G2 GPSM3 LTB LOC102725068 STK19 MIR6891 RNF5 AGER SNORD117 BAG6 DXO GPANK1 PRRT1 NCR3 SNORD84 FKBPL MSH5

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