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

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