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

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