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