Hs01955427_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31761561 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 22 - Intron 22

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 Exon 22 - Intron 22

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

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