Assay Details
Target Gene Details
Entrez Gene ID: | 100526836 |
Gene Name: | BLOC1S5-TXNDC5 readthrough (NMD candidate) |
Gene Aliases: |
MUTED-TXNDC5 |
Location: |
Chr.6:7881250-8064414 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLOC1S5-TXNDC5 | NR_037616.1 | 13 | 2835 | |
BC052310.1 | 13 | 2785 | AAH52310.1 |
Target Gene Details
Entrez Gene ID: | 81567 |
Gene Name: | thioredoxin domain containing 5 |
Gene Aliases: |
ENDOPDI, ERP46, HCC-2, HCC2, PDIA15, STRF8, UNQ364 |
Location: |
Chr.6:7881250-7910814 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TXNDC5 | NM_001145549.2 | 10 | 2678 | NP_001139021.1 |
NM_030810.3 | 10 | 2714 | NP_110437.2 | |
AK025006.1 | 4 | 2454 | ||
AK075291.1 | 10 | 2688 | BAC11526.1 | |
AK098089.1 | 14 | 2246 | ||
AL833008.1 | 10 | 2558 | CAH56286.1 | |
AL834423.1 | 7 | 2112 | CAD39084.1 | |
AY326464.1 | 10 | 2702 | AAR99514.1 | |
AY358646.1 | 10 | 2708 | AAQ89009.1 | |
BC001199.1 | 10 | 2433 | AAH01199.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv462625 | Chr.6:7868633 - 7906906 on Build GRCh38 | Loss | BLOC1S5-TXNDC5 BMP6 TXNDC5 |
nsv830582 | Chr.6:7706847 - 7889468 on Build GRCh38 | Loss | BLOC1S5-TXNDC5 BMP6 TXNDC5 |
nsv600924 | Chr.6:7823346 - 8206902 on Build GRCh38 | Gain | BLOC1S5-TXNDC5 BMP6 EEF1E1 EEF1E1-BLOC1S5 PIP5K1P1 SCARNA27 BLOC1S5 TXNDC5 |
esv2731544 | Chr.6:7817430 - 8348230 on Build GRCh38 | Deletion | BLOC1S5-TXNDC5 BMP6 EEF1E1 EEF1E1-BLOC1S5 PIP5K1P1 SCARNA27 BLOC1S5 TXNDC5 |
esv3890787 | Chr.6:6996928 - 7981438 on Build GRCh38 | Loss | SSR1 BLOC1S5-TXNDC5 SNRNP48 RREB1 BMP6 DSP RIOK1 LOC101928076 CAGE1 TXNDC5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |