Hs00636781_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31760708 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 19 - Exon 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 Intron 19 - Exon 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	C4B NELFE PPT2-EGFL8 DDAH2 ATF6B CSNK2B CLIC1 NOTCH4 LY6G5C LOC100287329 HCG26 PPT2 GPSM3 MIR6832 SAPCD1-AS1 NCR3 EHMT2 BTNL2 LY6G6C HCP5 SNORD117 ATP6V1G2 C2 LSM2 SLC44A4 HLA-DRB5 MICB ATP6V1G2-DDX39B PBX2 SNORD52 TNF VARS LY6G6E ZBTB12 HLA-DRA LOC101929163 HLA-DRB6 LTA NEU1 GPANK1 RNF5 TNXA LY6G5B LOC100507547 DDX39B LY6G6F AIF1 BAG6 LY6G6D DDX39B-AS1 APOM SNORA38 LST1 C6orf47 SNORD84 CYP21A1P PRRT1 HSPA1L C4A HSPA1A C6orf48 DXO FKBPL HSPA1B VWA7 EGFL8 AGER MIR4646 MSH5 NFKBIL1 MIR1236 SKIV2L SNORD48 C2-AS1 MIR6721 C6orf25 MCCD1 SAPCD1 CFB AGPAT1 HLA-DRB1 MSH5-SAPCD1 TNXB MIR6833 LOC102725068 LTB ABHD16A STK19 C6orf10 HCG23 CYP21A2 PRRC2A
esv2763547	Chr.6:31748105 - 31770701 on Build GRCh38	Loss	MSH5-SAPCD1 SAPCD1 VWA7 MSH5 SAPCD1-AS1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	C4B NELFE DDAH2 CSNK2B CLIC1 MIR6891 LY6G5C LOC100287329 HCG26 MIR6832 SAPCD1-AS1 NCR3 EHMT2 LY6G6C HCP5 SNORD117 ATP6V1G2 C2 LSM2 SLC44A4 MICB ATP6V1G2-DDX39B HLA-B SNORD52 TNF VARS LY6G6E ZBTB12 LTA NEU1 GPANK1 TNXA LY6G5B DDX39B LY6G6F AIF1 BAG6 LY6G6D DDX39B-AS1 APOM SNORA38 LST1 C6orf47 SNORD84 CYP21A1P HSPA1L C4A HSPA1A C6orf48 DXO HSPA1B VWA7 MIR4646 MSH5 NFKBIL1 MIR1236 SKIV2L SNORD48 C2-AS1 C6orf25 MCCD1 SAPCD1 CFB MSH5-SAPCD1 TNXB MICA LOC102725068 LTB ABHD16A STK19 CYP21A2 PRRC2A
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	HLA-DQA2 C4B RPS18 RING1 HLA-DOA ATF6B RGL2 WDR46 CSNK2B HLA-DMA NOTCH4 MIR5004 PSMB9 LY6G5C B3GALT4 LOC100294145 TAPBP HCG26 GPSM3 PSMB8 SAPCD1-AS1 ZBTB22 NCR3 EHMT2 BTNL2 LY6G6C HCP5 SNORD117 ATP6V1G2 LSM2 PBX2 HLA-DPB2 LY6G6E LOC101929163 HLA-DRB6 NEU1 RNF5 LY6G5B LOC100507547 HLA-DOB LY6G6D COL11A2 SNORD84 CYP21A1P DAXX ZBTB9 HSPA1L BRD2 C6orf48 DXO MIR3135B RXRB HLA-DPA1 FKBPL HSPA1B EGFL8 CUTA MSH5 NFKBIL1 PPP1R2P1 MIR6834 C2-AS1 AGPAT1 MSH5-SAPCD1 TNXB PFDN6 LOC102725068 HCG23 HLA-DMB NELFE PPT2-EGFL8 HLA-DQB2 DDAH2 CLIC1 LOC100287329 SLC39A7 HLA-DQB1-AS1 PPT2 MIR6832 HLA-DPB1 TAP2 MIR6873 HSD17B8 C2 SLC44A4 HLA-DRB5 MICB ATP6V1G2-DDX39B SNORD52 TNF VARS PSMB8-AS1 ZBTB12 HLA-DRA LTA GPANK1 TNXA PHF1 DDX39B LY6G6F AIF1 BAG6 DDX39B-AS1 KIFC1 APOM SNORA38 LST1 C6orf47 PRRT1 MIR219A1 C4A HSPA1A HLA-DQB1 VPS52 SYNGAP1 VWA7 AGER MIR4646 MIR1236 SKIV2L SNORD48 MIR6721 TAP1 C6orf25 MCCD1 SAPCD1 CFB HCG24 HLA-DRB1 MIR6833 HLA-DQA1 LTB ABHD16A STK19 C6orf10 HCG25 CYP21A2 PRRC2A
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	HLA-DQA2 C4B RPS18 RING1 HLA-DOA ATF6B RGL2 WDR46 CSNK2B HLA-DMA NOTCH4 MIR5004 PSMB9 LY6G5C B3GALT4 LOC100294145 TAPBP HCG26 GPSM3 PSMB8 SAPCD1-AS1 ZBTB22 NCR3 EHMT2 BTNL2 LY6G6C HCP5 SNORD117 ATP6V1G2 LSM2 PBX2 HLA-DPB2 LY6G6E LOC101929163 HLA-DRB6 NEU1 RNF5 LY6G5B LOC100507547 HLA-DOB LY6G6D COL11A2 SNORD84 CYP21A1P DAXX ZBTB9 HSPA1L BRD2 C6orf48 DXO MIR3135B RXRB HLA-DPA1 FKBPL HSPA1B EGFL8 CUTA MSH5 NFKBIL1 PPP1R2P1 MIR6834 C2-AS1 AGPAT1 MSH5-SAPCD1 TNXB PFDN6 LOC102725068 HCG23 HLA-DMB NELFE PPT2-EGFL8 HLA-DQB2 DDAH2 CLIC1 LOC100287329 SLC39A7 HLA-DQB1-AS1 PPT2 MIR6832 HLA-DPB1 TAP2 MIR6873 HSD17B8 C2 SLC44A4 HLA-DRB5 MICB ATP6V1G2-DDX39B SNORD52 TNF VARS PSMB8-AS1 ZBTB12 HLA-DRA LTA GPANK1 TNXA PHF1 DDX39B LY6G6F AIF1 BAG6 DDX39B-AS1 KIFC1 APOM SNORA38 LST1 C6orf47 PRRT1 MIR219A1 C4A HSPA1A HLA-DQB1 VPS52 SYNGAP1 VWA7 AGER MIR4646 MIR1236 SKIV2L SNORD48 MIR6721 TAP1 C6orf25 MCCD1 SAPCD1 CFB HCG24 HLA-DRB1 MIR6833 HLA-DQA1 LTB ABHD16A STK19 C6orf10 HCG25 CYP21A2 PRRC2A
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	C4B NELFE PPT2-EGFL8 DDAH2 ATF6B CSNK2B CLIC1 NOTCH4 MIR6891 LY6G5C LOC100287329 HCG26 PPT2 GPSM3 MIR6832 SAPCD1-AS1 NCR3 EHMT2 BTNL2 LY6G6C HCP5 SNORD117 ATP6V1G2 C2 LSM2 SLC44A4 MICB ATP6V1G2-DDX39B HLA-B PBX2 SNORD52 TNF VARS LY6G6E ZBTB12 HLA-DRA LOC101929163 LTA NEU1 GPANK1 RNF5 TNXA LY6G5B LOC100507547 DDX39B LY6G6F AIF1 BAG6 LY6G6D DDX39B-AS1 APOM SNORA38 LST1 C6orf47 SNORD84 CYP21A1P PRRT1 HSPA1L C4A HSPA1A C6orf48 DXO FKBPL HSPA1B VWA7 EGFL8 AGER MIR4646 MSH5 NFKBIL1 MIR1236 SKIV2L SNORD48 C2-AS1 MIR6721 C6orf25 MCCD1 SAPCD1 CFB AGPAT1 MSH5-SAPCD1 TNXB MICA MIR6833 LOC102725068 LTB ABHD16A STK19 C6orf10 HCG23 CYP21A2 PRRC2A

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