Hs02043587_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31761883 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: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH5	NM_002441.4	23	2533	NP_002432.1
	NM_025259.5			NP_079535.4
	NM_172165.3	23	2378	NP_751897.1
	NM_172166.3	23	2375	NP_751898.1
	AB209886.1			BAD93123.1
	AF034759.1	23	2307	AAB87632.1
	AF048986.1	23	2453	AAC62533.1
	AF070071.1	23	2481	AAC70066.1
	AK097233.1	12	2300
	AK303129.1	15	1522
	BC001358.2	23	2305	AAH01358.1
	BC002498.2	23	2305	AAH02498.1
	BC041031.1			AAH41031.1
	BF116106.1	3	414
	BT007200.1	22	2250	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: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH5-SAPCD1	NR_037846.1	23	2426
	AJ245661.1	23	2354	CAB52406.1
	AL122094.1			CAB59262.1

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

More Information

• Set Membership: Intragenic, 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