Hs00310429_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31761192 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 20 - Exon 21

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 Intron 20 - Exon 21

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

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