Hs01171236_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31758581 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 Exon 14 - Intron 14

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 Exon 14 - Intron 14

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

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