Assay Details
Target Gene Details
Entrez Gene ID: | 63915 |
Gene Name: | biogenesis of lysosomal organelles complex 1 subunit 5 |
Gene Aliases: |
BLOS5, MU, MUTED |
Location: |
Chr.6:8013567-8064414 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLOC1S5 | NM_001199322.1 | 6 | 983 | NP_001186251.1 |
NM_001199323.1 | 4 | 750 | NP_001186252.1 | |
NM_201280.2 | 5 | 880 | NP_958437.1 | |
AF426434.1 | 5 | 880 | AAL99385.1 | |
AK025442.1 | 5 | 833 | ||
AK301142.1 | 5 | 881 | ||
AK311385.1 | 2 | 731 | ||
BC032438.1 | 5 | 843 | AAH32438.1 | |
BC119644.1 | 5 | 865 | ||
BC119645.1 | 6 | 965 | ||
BX647336.1 | 6 | 1052 | ||
CR749569.1 | 5 | 855 | CAH18364.1 |
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 Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLOC1S5-TXNDC5 | NR_037616.1 | |||
BC052310.1 | AAH52310.1 |
Target Gene Details
Entrez Gene ID: | 100526837 |
Gene Name: | EEF1E1-BLOC1S5 readthrough (NMD candidate) |
Gene Aliases: |
EEF1E1-MUTED |
Location: |
Chr.6:8013567-8102595 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EEF1E1-BLOC1S5 | NR_037618.1 | 7 | 1188 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv600924 | Chr.6:7823346 - 8206902 on Build GRCh38 | Gain | EEF1E1-BLOC1S5 SCARNA27 BLOC1S5 BMP6 TXNDC5 PIP5K1P1 BLOC1S5-TXNDC5 EEF1E1 |
esv2731544 | Chr.6:7817430 - 8348230 on Build GRCh38 | Deletion | EEF1E1-BLOC1S5 SCARNA27 BLOC1S5 BMP6 TXNDC5 PIP5K1P1 BLOC1S5-TXNDC5 EEF1E1 |
esv3576096 | Chr.6:7993744 - 8022398 on Build GRCh38 | Gain | EEF1E1-BLOC1S5 BLOC1S5 BLOC1S5-TXNDC5 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |