Identity
HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
BK126B4.3,CGI-96,Rrp7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27341
HGNC: 24286
Ensembl: ENSG00000189306
Variants:
dbSNP: 27341
ClinVar: 27341
TCGA: ENSG00000189306
COSMIC: RRP7A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000189306 | ENST00000323013 | Q9Y3A4 |
| ENSG00000189306 | ENST00000416699 | F8WAT7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447197 | Attention Deficit Disorder with Hyperactivity | Disease | ClinicalAnnotation | associated | PD | 29382897 | |
| PA450464 | methylphenidate | Chemical | ClinicalAnnotation | associated | PD | 29382897 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33199730 | 2020 | RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. | 26 |
| 33199730 | 2020 | RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. | 26 |
Citation
Dessen P
RRP7A (ribosomal RNA processing 7 homolog A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72895/rrp7a-(ribosomal-rna-processing-7-homolog-a)
