Hs01171236_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31758581 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 14 - Intron 14

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 14 - Intron 14

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

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