Hs00310429_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31761192 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 Intron 20 - Exon 21

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 Intron 20 - Exon 21

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

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