Genomic Map
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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 Exon 14 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RUVBL1 | NM_001319086.1 | 10 | 1908 | NP_001306015.1 |
| XM_011513248.1 | XP_011511550.1 | |||
| XM_011513249.2 | 10 | 1495 | XP_011511551.1 | |
| XM_017007356.1 | 11 | 1587 | XP_016862845.1 | |
| XM_017007357.1 | 11 | 1457 | XP_016862846.1 | |
| AK092163.1 | 10 | 1908 |
Target Gene Details
Entrez Gene ID: | 29927 |
Gene Name: | Sec61 translocon alpha 1 subunit |
Gene Aliases: |
HSEC61, SEC61, SEC61A |
Location: |
Chr.3:128052369-128071683 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 8 - Intron 8 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| SEC61A1 | NM_013336.3 | NP_037468.1 | ||
| AF077032.1 | AAD27765.1 | |||
| AF084458.1 | AAD39847.1 | |||
| AF346602.1 | AAK29083.1 | |||
| AK001689.1 | ||||
| AK027423.1 | ||||
| AK074706.1 | ||||
| AK074928.1 | BAC11298.1 | |||
| AK299118.1 | ||||
| AL831940.1 | CAD38592.1 | |||
| AL832821.1 | CAI46127.1 |
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 |
 SEC61A1
RUVBL1
RUVBL1-AS1
KBTBD12
|
| nsv3991 | Chr.3:128048752 - 128081671 on Build GRCh38 | Insertion |
SEC61A1
RUVBL1
RUVBL1-AS1
|
| nsv1002685 | Chr.3:127819453 - 128455596 on Build GRCh38 | Gain |
EEFSEC
SEC61A1
RUVBL1
RUVBL1-AS1
KBTBD12
MGLL
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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