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RP1 (retinitis pigmentosa 1 (autosomal dominant))

Identity

Alias_symbol (synonym)DCDC4A
Other aliasORP1
HGNC (Hugo) RP1
LocusID (NCBI) 6101
Atlas_Id 72769
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 55528627 and ends at 55543394 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ASPH (8q12.3) / RP1 (8q12.1)ATP6V1H (8q11.23) / RP1 (8q12.1)ATP6V1H RP1
ASPH RP1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RP1   10263
Cards
Entrez_Gene (NCBI)RP1  6101  retinitis pigmentosa 1 (autosomal dominant)
AliasesDCDC4A; ORP1
GeneCards (Weizmann)RP1
Ensembl hg19 (Hinxton)ENSG00000104237 [Gene_View]  chr8:55528627-55543394 [Contig_View]  RP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104237 [Gene_View]  chr8:55528627-55543394 [Contig_View]  RP1 [Vega]
ICGC DataPortalENSG00000104237
TCGA cBioPortalRP1
AceView (NCBI)RP1
Genatlas (Paris)RP1
WikiGenes6101
SOURCE (Princeton)RP1
Genetics Home Reference (NIH)RP1
Genomic and cartography
GoldenPath hg19 (UCSC)RP1  -     chr8:55528627-55543394 +  8q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RP1  -     8q12.1   [Description]    (hg38-Dec_2013)
EnsemblRP1 - 8q12.1 [CytoView hg19]  RP1 - 8q12.1 [CytoView hg38]
Mapping of homologs : NCBIRP1 [Mapview hg19]  RP1 [Mapview hg38]
OMIM180100   603937   
Gene and transcription
Genbank (Entrez)AF141021 AF143222 AF146592 AK098176 AK302348
RefSeq transcript (Entrez)NM_006269
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_009840 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)RP1
Cluster EST : UnigeneHs.732820 [ NCBI ]
CGAP (NCI)Hs.732820
Alternative Splicing GalleryENSG00000104237
Gene ExpressionRP1 [ NCBI-GEO ]   RP1 [ EBI - ARRAY_EXPRESS ]   RP1 [ SEEK ]   RP1 [ MEM ]
Gene Expression Viewer (FireBrowse)RP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6101
GTEX Portal (Tissue expression)RP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56715   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56715  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56715
Splice isoforms : SwissVarP56715
PhosPhoSitePlusP56715
Domaine pattern : Prosite (Expaxy)DC (PS50309)   
Domains : Interpro (EBI)Doublecortin_dom   
Domain families : Pfam (Sanger)DCX (PF03607)   
Domain families : Pfam (NCBI)pfam03607   
Domain families : Smart (EMBL)DCX (SM00537)  
Conserved Domain (NCBI)RP1
DMDM Disease mutations6101
Blocks (Seattle)RP1
SuperfamilyP56715
Human Protein AtlasENSG00000104237
Peptide AtlasP56715
HPRD04896
IPIIPI00011044   IPI00973532   IPI00886825   
Protein Interaction databases
DIP (DOE-UCLA)P56715
IntAct (EBI)P56715
FunCoupENSG00000104237
BioGRIDRP1
STRING (EMBL)RP1
ZODIACRP1
Ontologies - Pathways
QuickGOP56715
Ontology : AmiGOphotoreceptor outer segment  photoreceptor inner segment  protein binding  microtubule  microtubule associated complex  axoneme  visual perception  phototransduction, visible light  microtubule binding  photoreceptor connecting cilium  axoneme assembly  axoneme assembly  intracellular signal transduction  photoreceptor cell outer segment organization  photoreceptor cell development  photoreceptor cell development  photoreceptor cell maintenance  retinal rod cell development  retinal cone cell development  retina development in camera-type eye  cellular response to light stimulus  
Ontology : EGO-EBIphotoreceptor outer segment  photoreceptor inner segment  protein binding  microtubule  microtubule associated complex  axoneme  visual perception  phototransduction, visible light  microtubule binding  photoreceptor connecting cilium  axoneme assembly  axoneme assembly  intracellular signal transduction  photoreceptor cell outer segment organization  photoreceptor cell development  photoreceptor cell development  photoreceptor cell maintenance  retinal rod cell development  retinal cone cell development  retina development in camera-type eye  cellular response to light stimulus  
NDEx NetworkRP1
Atlas of Cancer Signalling NetworkRP1
Wikipedia pathwaysRP1
Orthology - Evolution
OrthoDB6101
GeneTree (enSembl)ENSG00000104237
Phylogenetic Trees/Animal Genes : TreeFamRP1
HOVERGENP56715
HOGENOMP56715
Homologs : HomoloGeneRP1
Homology/Alignments : Family Browser (UCSC)RP1
Gene fusions - Rearrangements
Fusion: TCGAATP6V1H RP1
Fusion: TCGAASPH RP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RP1
dbVarRP1
ClinVarRP1
1000_GenomesRP1 
Exome Variant ServerRP1
ExAC (Exome Aggregation Consortium)RP1 (select the gene name)
Genetic variants : HAPMAP6101
Genomic Variants (DGV)RP1 [DGVbeta]
DECIPHER (Syndromes)8:55528627-55543394  ENSG00000104237
CONAN: Copy Number AnalysisRP1 
Mutations
ICGC Data PortalRP1 
TCGA Data PortalRP1 
Broad Tumor PortalRP1
OASIS PortalRP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch RP1
DgiDB (Drug Gene Interaction Database)RP1
DoCM (Curated mutations)RP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RP1 (select a term)
intoGenRP1
Cancer3DRP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180100    603937   
Orphanet659   
MedgenRP1
Genetic Testing Registry RP1
NextProtP56715 [Medical]
TSGene6101
GENETestsRP1
Huge Navigator RP1 [HugePedia]
snp3D : Map Gene to Disease6101
BioCentury BCIQRP1
ClinGenRP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6101
Chemical/Pharm GKB GenePA34635
Clinical trialRP1
Miscellaneous
canSAR (ICR)RP1 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRP1
EVEXRP1
GoPubMedRP1
iHOPRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:41:33 CET 2017

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