RRP7A (ribosomal RNA processing 7 homolog A)

2014-11-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
BK126B4.3,CGI-96,Rrp7
FUSION GENES

Other Information

Locus ID:

NCBI: 27341
HGNC: 24286
Ensembl: ENSG00000189306

Variants:

dbSNP: 27341
ClinVar: 27341
TCGA: ENSG00000189306
COSMIC: RRP7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189306ENST00000323013Q9Y3A4
ENSG00000189306ENST00000416699F8WAT7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
331997302020RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.26
331997302020RRP7A 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/favicon/js/web-card-_common.js