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