Hs00636781_cn

• Gene Symbol: MSH5
• Assay Reference Genome Location: Chr.6:31760708 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 19 - Exon 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 Intron 19 - Exon 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	SAPCD1 LY6G6E EGFL8 MSH5 HSPA1L GPSM3 SNORD52 TNF HCP5 PBX2 STK19 C6orf10 CYP21A1P MIR4646 ZBTB12 PPT2 LY6G6D MIR6721 NCR3 AGPAT1 HSPA1B RNF5 NELFE ATP6V1G2 PPT2-EGFL8 LST1 BTNL2 DXO PRRC2A LY6G5B LTA C4B MIR1236 ATF6B LOC102725068 HCG23 EHMT2 CSNK2B SNORA38 HLA-DRB1 DDAH2 VWA7 C4A LTB DDX39B-AS1 HSPA1A TNXA DDX39B LY6G5C NEU1 NFKBIL1 HLA-DRB5 SNORD48 MIR6833 LOC100507547 MIR6832 TNXB SNORD117 MSH5-SAPCD1 C2 AGER VARS LY6G6F LOC100287329 C6orf48 CFB HLA-DRA MICB HLA-DRB6 C2-AS1 LSM2 CYP21A2 C6orf47 MCCD1 AIF1 NOTCH4 APOM FKBPL LOC101929163 HCG26 SKIV2L C6orf25 BAG6 SAPCD1-AS1 CLIC1 SLC44A4 ABHD16A GPANK1 ATP6V1G2-DDX39B SNORD84 PRRT1 LY6G6C
esv2763547	Chr.6:31748105 - 31770701 on Build GRCh38	Loss	SAPCD1-AS1 SAPCD1 MSH5 VWA7 MSH5-SAPCD1
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	PHF1 LY6G6E EGFL8 MSH5 HSPA1L GPSM3 SNORD52 HCG24 HCP5 PBX2 STK19 PPT2 TAP1 KIFC1 PSMB8-AS1 NCR3 MIR6873 SLC39A7 LOC100294145 SYNGAP1 RNF5 NELFE HLA-DOB RGL2 PRRC2A DAXX ATF6B LOC102725068 HCG23 SNORA38 HLA-DRB1 DDAH2 VWA7 PSMB8 HLA-DMB LTB TNXA DDX39B HLA-DRB5 MIR219A1 SNORD48 LOC100507547 MIR6832 MIR6834 HLA-DPA1 RING1 AGER VARS LY6G6F HLA-DQB2 RXRB C6orf48 HLA-DRB6 LSM2 TAP2 HLA-DPB1 AIF1 ZBTB9 NOTCH4 LOC101929163 SKIV2L BAG6 COL11A2 SAPCD1-AS1 MIR5004 CLIC1 SLC44A4 ABHD16A SNORD84 PRRT1 LY6G6C HLA-DQB1 SAPCD1 B3GALT4 TNF HLA-DMA C6orf10 CYP21A1P HCG25 MIR4646 ZBTB12 WDR46 TAPBP LY6G6D MIR6721 AGPAT1 HSPA1B HSD17B8 HLA-DOA ATP6V1G2 PPT2-EGFL8 LST1 BTNL2 DXO LY6G5B LTA C4B MIR1236 EHMT2 PFDN6 CSNK2B PSMB9 C4A CUTA DDX39B-AS1 HSPA1A MIR3135B LY6G5C NEU1 HLA-DQA1 ZBTB22 NFKBIL1 MIR6833 TNXB SNORD117 MSH5-SAPCD1 C2 LOC100287329 CFB HLA-DRA PPP1R2P1 BRD2 MICB C2-AS1 CYP21A2 C6orf47 HLA-DPB2 MCCD1 HLA-DQB1-AS1 VPS52 APOM FKBPL HCG26 C6orf25 RPS18 GPANK1 ATP6V1G2-DDX39B HLA-DQA2
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	SAPCD1 LY6G6E MSH5 HSPA1L SNORD52 TNF HCP5 STK19 CYP21A1P MICA MIR4646 ZBTB12 LY6G6D NCR3 HSPA1B NELFE ATP6V1G2 LST1 DXO PRRC2A LY6G5B LTA C4B MIR1236 LOC102725068 EHMT2 CSNK2B SNORA38 DDAH2 VWA7 C4A LTB DDX39B-AS1 HSPA1A TNXA DDX39B LY6G5C NEU1 NFKBIL1 SNORD48 MIR6832 TNXB SNORD117 MSH5-SAPCD1 C2 VARS LY6G6F LOC100287329 MIR6891 C6orf48 CFB MICB C2-AS1 LSM2 CYP21A2 C6orf47 MCCD1 AIF1 APOM HCG26 SKIV2L C6orf25 BAG6 SAPCD1-AS1 CLIC1 SLC44A4 ABHD16A GPANK1 ATP6V1G2-DDX39B HLA-B SNORD84 LY6G6C
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	PHF1 LY6G6E EGFL8 MSH5 HSPA1L GPSM3 SNORD52 HCG24 HCP5 PBX2 STK19 PPT2 TAP1 KIFC1 PSMB8-AS1 NCR3 MIR6873 SLC39A7 LOC100294145 SYNGAP1 RNF5 NELFE HLA-DOB RGL2 PRRC2A DAXX ATF6B LOC102725068 HCG23 SNORA38 HLA-DRB1 DDAH2 VWA7 PSMB8 HLA-DMB LTB TNXA DDX39B HLA-DRB5 MIR219A1 SNORD48 LOC100507547 MIR6832 MIR6834 HLA-DPA1 RING1 AGER VARS LY6G6F HLA-DQB2 RXRB C6orf48 HLA-DRB6 LSM2 TAP2 HLA-DPB1 AIF1 ZBTB9 NOTCH4 LOC101929163 SKIV2L BAG6 COL11A2 SAPCD1-AS1 MIR5004 CLIC1 SLC44A4 ABHD16A SNORD84 PRRT1 LY6G6C HLA-DQB1 SAPCD1 B3GALT4 TNF HLA-DMA C6orf10 CYP21A1P HCG25 MIR4646 ZBTB12 WDR46 TAPBP LY6G6D MIR6721 AGPAT1 HSPA1B HSD17B8 HLA-DOA ATP6V1G2 PPT2-EGFL8 LST1 BTNL2 DXO LY6G5B LTA C4B MIR1236 EHMT2 PFDN6 CSNK2B PSMB9 C4A CUTA DDX39B-AS1 HSPA1A MIR3135B LY6G5C NEU1 HLA-DQA1 ZBTB22 NFKBIL1 MIR6833 TNXB SNORD117 MSH5-SAPCD1 C2 LOC100287329 CFB HLA-DRA PPP1R2P1 BRD2 MICB C2-AS1 CYP21A2 C6orf47 HLA-DPB2 MCCD1 HLA-DQB1-AS1 VPS52 APOM FKBPL HCG26 C6orf25 RPS18 GPANK1 ATP6V1G2-DDX39B HLA-DQA2
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	SAPCD1 LY6G6E EGFL8 MSH5 HSPA1L GPSM3 SNORD52 TNF HCP5 PBX2 STK19 C6orf10 CYP21A1P MICA MIR4646 ZBTB12 PPT2 LY6G6D MIR6721 NCR3 AGPAT1 HSPA1B RNF5 NELFE ATP6V1G2 PPT2-EGFL8 LST1 BTNL2 DXO PRRC2A LY6G5B LTA C4B MIR1236 ATF6B LOC102725068 HCG23 EHMT2 CSNK2B SNORA38 DDAH2 VWA7 C4A LTB DDX39B-AS1 HSPA1A TNXA DDX39B LY6G5C NEU1 NFKBIL1 SNORD48 MIR6833 LOC100507547 MIR6832 TNXB SNORD117 MSH5-SAPCD1 C2 AGER VARS LY6G6F LOC100287329 MIR6891 C6orf48 CFB HLA-DRA MICB C2-AS1 LSM2 CYP21A2 C6orf47 MCCD1 AIF1 NOTCH4 APOM FKBPL LOC101929163 HCG26 SKIV2L C6orf25 BAG6 SAPCD1-AS1 CLIC1 SLC44A4 ABHD16A GPANK1 ATP6V1G2-DDX39B HLA-B SNORD84 PRRT1 LY6G6C

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