Hs01490561_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31760812 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 20 - Intron 20

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 20 - Intron 20

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

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