Assay Details
Target Gene Details
Entrez Gene ID: | 80324 |
Gene Name: | pseudouridylate synthase 1 |
Gene Aliases: |
MLASA1 |
Location: |
Chr.12:131929200-131944040 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PUS1 | NM_001002019.2 | 2 | 283 | NP_001002019.1 |
NM_001002020.2 | 2 | 312 | NP_001002020.1 | |
NM_025215.5 | 2 | 660 | NP_079491.2 | |
XM_011538769.2 | 2 | 660 | XP_011537071.1 | |
AF116238.1 | AAD21042.1 | |||
AF318369.1 | 2 | 652 | AAL55876.1 | |
AK074659.1 | 2 | 660 | ||
AK292242.1 | 2 | 256 | ||
BC002901.2 | 2 | 226 | AAH02901.1 | |
BC009505.2 | 2 | 431 | ||
BC019320.1 | 2 | 431 | ||
BG336824.1 | 2 | 217 | ||
BM923133.1 | 2 | 289 | ||
BX340929.2 | 2 | 284 | ||
CB118952.1 | 2 | 312 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv826561 | Chr.12:131827412 - 131930739 on Build GRCh38 | Gain | PUS1 MMP17 ULK1 |
nsv560930 | Chr.12:131819514 - 131990296 on Build GRCh38 | Loss | PUS1 MMP17 EP400 ULK1 |
nsv455803 | Chr.12:131748598 - 131937699 on Build GRCh38 | Gain | PUS1 MMP17 SFSWAP ULK1 |
nsv942 | Chr.12:131906169 - 131935050 on Build GRCh38 | Insertion | PUS1 ULK1 |
esv3631282 | Chr.12:131915190 - 132065739 on Build GRCh38 | Gain | SNORA49 PUS1 EP400 ULK1 |
esv2751042 | Chr.12:131776139 - 132005401 on Build GRCh38 | Gain | PUS1 MMP17 EP400 SFSWAP ULK1 |
nsv560928 | Chr.12:131793985 - 132060098 on Build GRCh38 | Gain | SNORA49 PUS1 MMP17 EP400 SFSWAP ULK1 |
esv3631281 | Chr.12:131909102 - 131947534 on Build GRCh38 | Gain | PUS1 ULK1 |
nsv455804 | Chr.12:131842314 - 131934988 on Build GRCh38 | Loss | PUS1 MMP17 ULK1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |