Hs01955427_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31761561 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 22 - Intron 22

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
	BF116106.1
	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 22 - Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH5-SAPCD1	NR_037846.1
	AJ245661.1			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	PPT2 HSPA1A HSPA1B GPSM3 AGER DDAH2 LY6G6F C2-AS1 MIR6832 PPT2-EGFL8 STK19 DDX39B-AS1 CYP21A1P NCR3 SLC44A4 TNXB LOC101929163 MIR6833 PRRC2A NEU1 SAPCD1-AS1 HCP5 NOTCH4 LTA LY6G5C BAG6 GPANK1 MIR4646 NELFE ZBTB12 LY6G6D SNORD84 MIR6721 ATF6B AGPAT1 SNORD52 SKIV2L LY6G6C HLA-DRB1 TNF C4A MSH5-SAPCD1 CYP21A2 LSM2 C6orf47 C6orf25 HCG23 CSNK2B DXO HSPA1L HLA-DRB6 EHMT2 CFB C2 AIF1 CLIC1 PRRT1 MCCD1 VARS LOC100507547 BTNL2 ATP6V1G2-DDX39B LOC100287329 SNORD48 VWA7 C4B MICB ABHD16A ATP6V1G2 LTB PBX2 C6orf48 EGFL8 C6orf10 LY6G6E LOC102725068 RNF5 APOM SNORA38 MIR1236 LST1 SNORD117 HLA-DRA NFKBIL1 LY6G5B SAPCD1 MSH5 HLA-DRB5 FKBPL HCG26 TNXA DDX39B
esv2763547	Chr.6:31748105 - 31770701 on Build GRCh38	Loss	VWA7 SAPCD1 MSH5 MSH5-SAPCD1 SAPCD1-AS1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	HSPA1A HSPA1B DDAH2 LY6G6F C2-AS1 MIR6832 STK19 DDX39B-AS1 CYP21A1P NCR3 SLC44A4 TNXB PRRC2A NEU1 SAPCD1-AS1 HCP5 MIR6891 LTA LY6G5C BAG6 GPANK1 MIR4646 NELFE ZBTB12 LY6G6D SNORD84 SNORD52 SKIV2L LY6G6C TNF C4A MSH5-SAPCD1 CYP21A2 LSM2 C6orf47 C6orf25 CSNK2B DXO HSPA1L MICA EHMT2 CFB C2 AIF1 CLIC1 MCCD1 VARS ATP6V1G2-DDX39B LOC100287329 SNORD48 VWA7 C4B MICB ABHD16A ATP6V1G2 LTB C6orf48 LY6G6E LOC102725068 APOM SNORA38 MIR1236 HLA-B LST1 SNORD117 NFKBIL1 LY6G5B SAPCD1 MSH5 HCG26 TNXA DDX39B
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	PPT2 C2-AS1 MIR6832 STK19 HLA-DPA1 PSMB8 DDX39B-AS1 TAP1 SLC44A4 TNXB LOC101929163 WDR46 PRRC2A HCP5 LY6G5C GPANK1 MIR4646 DAXX ZBTB12 MIR6721 AGPAT1 SNORD52 TAP2 HLA-DRB1 MIR6873 MSH5-SAPCD1 CYP21A2 LSM2 C6orf47 RGL2 SYNGAP1 CSNK2B HLA-DQB1-AS1 HLA-DRB6 HLA-DQA2 HLA-DQB2 MIR219A1 CUTA AIF1 PRRT1 MCCD1 HLA-DMA VARS LOC100507547 PSMB9 BTNL2 HLA-DOA ATP6V1G2-DDX39B HCG25 SNORD48 ABHD16A C6orf48 LY6G6E LOC102725068 HLA-DPB1 COL11A2 PHF1 VPS52 HLA-DQB1 LY6G5B MSH5 HCG26 TNXA HSPA1A HSPA1B GPSM3 AGER DDAH2 LY6G6F PPT2-EGFL8 CYP21A1P NCR3 ZBTB9 PSMB8-AS1 PFDN6 MIR6833 NEU1 SAPCD1-AS1 NOTCH4 LTA BRD2 BAG6 NELFE RXRB LY6G6D SNORD84 ATF6B SKIV2L LY6G6C HLA-DOB TNF C4A HLA-DMB C6orf25 HCG23 DXO HSPA1L PPP1R2P1 HCG24 EHMT2 LOC100294145 HLA-DQA1 CFB C2 KIFC1 CLIC1 TAPBP RPS18 B3GALT4 LOC100287329 VWA7 C4B MICB ATP6V1G2 LTB PBX2 EGFL8 C6orf10 MIR3135B RNF5 APOM SNORA38 MIR1236 RING1 SLC39A7 HSD17B8 LST1 ZBTB22 SNORD117 MIR6834 HLA-DRA NFKBIL1 MIR5004 SAPCD1 HLA-DRB5 HLA-DPB2 FKBPL DDX39B
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	PPT2 C2-AS1 MIR6832 STK19 HLA-DPA1 PSMB8 DDX39B-AS1 TAP1 SLC44A4 TNXB LOC101929163 WDR46 PRRC2A HCP5 LY6G5C GPANK1 MIR4646 DAXX ZBTB12 MIR6721 AGPAT1 SNORD52 TAP2 HLA-DRB1 MIR6873 MSH5-SAPCD1 CYP21A2 LSM2 C6orf47 RGL2 SYNGAP1 CSNK2B HLA-DQB1-AS1 HLA-DRB6 HLA-DQA2 HLA-DQB2 MIR219A1 CUTA AIF1 PRRT1 MCCD1 HLA-DMA VARS LOC100507547 PSMB9 BTNL2 HLA-DOA ATP6V1G2-DDX39B HCG25 SNORD48 ABHD16A C6orf48 LY6G6E LOC102725068 HLA-DPB1 COL11A2 PHF1 VPS52 HLA-DQB1 LY6G5B MSH5 HCG26 TNXA HSPA1A HSPA1B GPSM3 AGER DDAH2 LY6G6F PPT2-EGFL8 CYP21A1P NCR3 ZBTB9 PSMB8-AS1 PFDN6 MIR6833 NEU1 SAPCD1-AS1 NOTCH4 LTA BRD2 BAG6 NELFE RXRB LY6G6D SNORD84 ATF6B SKIV2L LY6G6C HLA-DOB TNF C4A HLA-DMB C6orf25 HCG23 DXO HSPA1L PPP1R2P1 HCG24 EHMT2 LOC100294145 HLA-DQA1 CFB C2 KIFC1 CLIC1 TAPBP RPS18 B3GALT4 LOC100287329 VWA7 C4B MICB ATP6V1G2 LTB PBX2 EGFL8 C6orf10 MIR3135B RNF5 APOM SNORA38 MIR1236 RING1 SLC39A7 HSD17B8 LST1 ZBTB22 SNORD117 MIR6834 HLA-DRA NFKBIL1 MIR5004 SAPCD1 HLA-DRB5 HLA-DPB2 FKBPL DDX39B
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	PPT2 HSPA1A HSPA1B GPSM3 AGER DDAH2 LY6G6F C2-AS1 MIR6832 PPT2-EGFL8 STK19 DDX39B-AS1 CYP21A1P NCR3 SLC44A4 TNXB LOC101929163 MIR6833 PRRC2A NEU1 SAPCD1-AS1 HCP5 MIR6891 NOTCH4 LTA LY6G5C BAG6 GPANK1 MIR4646 NELFE ZBTB12 LY6G6D SNORD84 MIR6721 ATF6B AGPAT1 SNORD52 SKIV2L LY6G6C TNF C4A MSH5-SAPCD1 CYP21A2 LSM2 C6orf47 C6orf25 HCG23 CSNK2B DXO HSPA1L MICA EHMT2 CFB C2 AIF1 CLIC1 PRRT1 MCCD1 VARS LOC100507547 BTNL2 ATP6V1G2-DDX39B LOC100287329 SNORD48 VWA7 C4B MICB ABHD16A ATP6V1G2 LTB PBX2 C6orf48 EGFL8 C6orf10 LY6G6E LOC102725068 RNF5 APOM SNORA38 MIR1236 HLA-B LST1 SNORD117 HLA-DRA NFKBIL1 LY6G5B SAPCD1 MSH5 FKBPL HCG26 TNXA DDX39B

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