Assay Details
Target Gene Details
Entrez Gene ID: | 8607 |
Gene Name: | RuvB like AAA ATPase 1 |
Gene Aliases: |
ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A |
Location: |
Chr.3:128064612-128153914 on Build GRCh38 |
Assay Gene Location: | Within Intron 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL1 | NM_001319086.1 | NP_001306015.1 | ||
XM_011513248.1 | XP_011511550.1 | |||
XM_011513249.2 | XP_011511551.1 | |||
XM_017007356.1 | XP_016862845.1 | |||
XM_017007357.1 | XP_016862846.1 | |||
AK092163.1 |
Target Gene Details
Entrez Gene ID: | 100874089 |
Gene Name: | RUVBL1 antisense RNA 1 |
Gene Aliases: |
- |
Location: |
Chr.3:128075810-128079056 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL1-AS1 | NR_046645.1 | |||
DA337460.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1001879 | Chr.3:127956099 - 128143493 on Build GRCh38 | Gain | KBTBD12 RUVBL1-AS1 RUVBL1 SEC61A1 |
nsv3991 | Chr.3:128048752 - 128081671 on Build GRCh38 | Insertion | RUVBL1-AS1 RUVBL1 SEC61A1 |
nsv1002685 | Chr.3:127819453 - 128455596 on Build GRCh38 | Gain | KBTBD12 MGLL RUVBL1-AS1 EEFSEC RUVBL1 SEC61A1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |