Hs02342040_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31758775 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 14 - Exon 15

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 Intron 14 - Exon 15

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

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