Hs06137079_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31748764 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: Within Intron 10

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
	AF034759.1			AAB87632.1
	AF048986.1			AAC62533.1
	AF070071.1			AAC70066.1
	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: Within Intron 10

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
nsv819978	Chr.6:31745482 - 31753342 on Build GRCh38	Loss	MSH5 MSH5-SAPCD1
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	FKBPL HSPA1L C6orf10 HLA-DRB6 LSM2 DDAH2 GPSM3 CFB MCCD1 LOC102725068 ZBTB12 C6orf25 C2-AS1 SNORA38 VARS CLIC1 AGER RNF5 PRRT1 SAPCD1 NCR3 LOC100507547 LY6G5B VWA7 CSNK2B ABHD16A BTNL2 SNORD117 PPT2-EGFL8 MIR6721 NELFE LY6G6E SLC44A4 ATP6V1G2-DDX39B LTB HCG23 C4A C4B LOC101929163 HLA-DRB1 PBX2 NEU1 LY6G5C EGFL8 MIR6833 DXO HSPA1B ATP6V1G2 AGPAT1 SNORD84 PPT2 LTA MSH5-SAPCD1 HSPA1A C2 SAPCD1-AS1 DDX39B EHMT2 SNORD52 LOC100287329 MIR6832 MICB HCP5 DDX39B-AS1 STK19 TNF PRRC2A NOTCH4 BAG6 C6orf48 CYP21A2 NFKBIL1 MSH5 C6orf47 LY6G6F HLA-DRB5 HLA-DRA ATF6B LST1 MIR1236 CYP21A1P AIF1 SKIV2L SNORD48 TNXA TNXB HCG26 LY6G6C MIR4646 GPANK1 APOM LY6G6D
esv2763547	Chr.6:31748105 - 31770701 on Build GRCh38	Loss	SAPCD1-AS1 MSH5 SAPCD1 VWA7 MSH5-SAPCD1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	HSPA1L LSM2 MICA DDAH2 CFB MCCD1 LOC102725068 ZBTB12 C6orf25 C2-AS1 SNORA38 VARS CLIC1 SAPCD1 NCR3 LY6G5B VWA7 CSNK2B ABHD16A SNORD117 NELFE LY6G6E SLC44A4 ATP6V1G2-DDX39B LTB C4A C4B NEU1 LY6G5C DXO HSPA1B ATP6V1G2 SNORD84 LTA MSH5-SAPCD1 HSPA1A C2 SAPCD1-AS1 DDX39B EHMT2 SNORD52 LOC100287329 MIR6832 MICB HCP5 MIR6891 DDX39B-AS1 STK19 TNF PRRC2A BAG6 C6orf48 CYP21A2 NFKBIL1 MSH5 C6orf47 LY6G6F HLA-B LST1 MIR1236 CYP21A1P AIF1 SKIV2L SNORD48 TNXA TNXB HCG26 LY6G6C MIR4646 GPANK1 APOM LY6G6D
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	HLA-DMB HSPA1L HLA-DRB6 LSM2 LOC100294145 CFB MCCD1 LOC102725068 C2-AS1 SNORA38 CLIC1 AGER BRD2 DAXX SYNGAP1 NCR3 VPS52 HLA-DQB1 VWA7 CSNK2B TAP2 ABHD16A BTNL2 SNORD117 PPT2-EGFL8 MIR5004 ATP6V1G2-DDX39B C4B LOC101929163 HLA-DRB1 PBX2 TAPBP EGFL8 DXO HSPA1B HLA-DPB2 LTA HSPA1A ZBTB9 C2 PPP1R2P1 DDX39B HLA-DPA1 SNORD52 LOC100287329 MIR6832 HCP5 SLC39A7 DDX39B-AS1 STK19 TNF PRRC2A NOTCH4 BAG6 CYP21A2 NFKBIL1 HLA-DPB1 C6orf47 HLA-DRB5 PSMB8 HLA-DQA1 LST1 MIR1236 AIF1 HCG26 LY6G6C MIR4646 MIR219A1 ZBTB22 HLA-DQB2 HCG25 HLA-DMA TAP1 FKBPL C6orf10 DDAH2 GPSM3 HCG24 ZBTB12 C6orf25 HLA-DQB1-AS1 COL11A2 RXRB VARS MIR6873 PFDN6 RNF5 PRRT1 SAPCD1 LOC100507547 RPS18 LY6G5B MIR6721 HLA-DOA NELFE LY6G6E SLC44A4 LTB HCG23 C4A NEU1 LY6G5C MIR6833 ATP6V1G2 AGPAT1 KIFC1 SNORD84 MIR6834 HLA-DQA2 PPT2 MSH5-SAPCD1 SAPCD1-AS1 PHF1 EHMT2 MICB B3GALT4 WDR46 MIR3135B PSMB8-AS1 RING1 C6orf48 HLA-DOB MSH5 RGL2 LY6G6F HLA-DRA HSD17B8 ATF6B CYP21A1P SKIV2L SNORD48 CUTA TNXA TNXB PSMB9 GPANK1 APOM LY6G6D
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	HLA-DMB HSPA1L HLA-DRB6 LSM2 LOC100294145 CFB MCCD1 LOC102725068 C2-AS1 SNORA38 CLIC1 AGER BRD2 DAXX SYNGAP1 NCR3 VPS52 HLA-DQB1 VWA7 CSNK2B TAP2 ABHD16A BTNL2 SNORD117 PPT2-EGFL8 MIR5004 ATP6V1G2-DDX39B C4B LOC101929163 HLA-DRB1 PBX2 TAPBP EGFL8 DXO HSPA1B HLA-DPB2 LTA HSPA1A ZBTB9 C2 PPP1R2P1 DDX39B HLA-DPA1 SNORD52 LOC100287329 MIR6832 HCP5 SLC39A7 DDX39B-AS1 STK19 TNF PRRC2A NOTCH4 BAG6 CYP21A2 NFKBIL1 HLA-DPB1 C6orf47 HLA-DRB5 PSMB8 HLA-DQA1 LST1 MIR1236 AIF1 HCG26 LY6G6C MIR4646 MIR219A1 ZBTB22 HLA-DQB2 HCG25 HLA-DMA TAP1 FKBPL C6orf10 DDAH2 GPSM3 HCG24 ZBTB12 C6orf25 HLA-DQB1-AS1 COL11A2 RXRB VARS MIR6873 PFDN6 RNF5 PRRT1 SAPCD1 LOC100507547 RPS18 LY6G5B MIR6721 HLA-DOA NELFE LY6G6E SLC44A4 LTB HCG23 C4A NEU1 LY6G5C MIR6833 ATP6V1G2 AGPAT1 KIFC1 SNORD84 MIR6834 HLA-DQA2 PPT2 MSH5-SAPCD1 SAPCD1-AS1 PHF1 EHMT2 MICB B3GALT4 WDR46 MIR3135B PSMB8-AS1 RING1 C6orf48 HLA-DOB MSH5 RGL2 LY6G6F HLA-DRA HSD17B8 ATF6B CYP21A1P SKIV2L SNORD48 CUTA TNXA TNXB PSMB9 GPANK1 APOM LY6G6D
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	FKBPL HSPA1L C6orf10 LSM2 MICA DDAH2 GPSM3 CFB MCCD1 LOC102725068 ZBTB12 C6orf25 C2-AS1 SNORA38 VARS CLIC1 AGER RNF5 PRRT1 SAPCD1 NCR3 LOC100507547 LY6G5B VWA7 CSNK2B ABHD16A BTNL2 SNORD117 PPT2-EGFL8 MIR6721 NELFE LY6G6E SLC44A4 ATP6V1G2-DDX39B LTB HCG23 C4A C4B LOC101929163 PBX2 NEU1 LY6G5C EGFL8 MIR6833 DXO HSPA1B ATP6V1G2 AGPAT1 SNORD84 PPT2 LTA MSH5-SAPCD1 HSPA1A C2 SAPCD1-AS1 DDX39B EHMT2 SNORD52 LOC100287329 MIR6832 MICB HCP5 MIR6891 DDX39B-AS1 STK19 TNF PRRC2A NOTCH4 BAG6 C6orf48 CYP21A2 NFKBIL1 MSH5 C6orf47 LY6G6F HLA-B HLA-DRA ATF6B LST1 MIR1236 CYP21A1P AIF1 SKIV2L SNORD48 TNXA TNXB HCG26 LY6G6C MIR4646 GPANK1 APOM LY6G6D

More Information

• Set Membership: Intragenic, Intronic, 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