RP1 (RP1 axonemal microtubule associated)

2014-11-01  

Identity

HGNC
LOCATION
8q12.1
LOCUSID
ALIAS
DCDC4A,ORP1
FUSION GENES

Other Information

Locus ID:

NCBI: 6101
MIM: 603937
HGNC: 10263
Ensembl: ENSG00000104237

Variants:

dbSNP: 6101
ClinVar: 6101
TCGA: ENSG00000104237
COSMIC: RP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104237ENST00000220676P56715
ENSG00000104237ENST00000636932A0A1B0GTV9
ENSG00000104237ENST00000637698A0A1B0GUH0

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383995422024RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.0
383995422024RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.0
363417272023Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).1
378438942023LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.0
363417272023Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).1
378438942023LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.0
341837252021In Silico identification of a common mobile element insertion in exon 4 of RP1.3
341837252021In Silico identification of a common mobile element insertion in exon 4 of RP1.3
320058652020Retinitis Pigmentosa Due to Rp1 Biallelic Variants.8
321936592020A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.7
325874562020Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.5
326271062020Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.8
320058652020Retinitis Pigmentosa Due to Rp1 Biallelic Variants.8
321936592020A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.7
325874562020Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.5

Citation

Dessen P

RP1 (RP1 axonemal microtubule associated)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72769/meetings/css/card-gene.css