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RP9 (retinitis pigmentosa 9 (autosomal dominant))

Identity

Alias_symbol (synonym)PAP-1
Other aliasPAP1
HGNC (Hugo) RP9
LocusID (NCBI) 6100
Atlas_Id 72772
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 33094798 and ends at 33109390 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GUK1 (1q42.13) / RP9 (7p14.3)RP9 (7p14.3) / AFF3 (2q11.2)

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)RP9   10288
Cards
Entrez_Gene (NCBI)RP9  6100  retinitis pigmentosa 9 (autosomal dominant)
AliasesPAP-1; PAP1
GeneCards (Weizmann)RP9
Ensembl hg19 (Hinxton)ENSG00000164610 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164610 [Gene_View]  chr7:33094798-33109390 [Contig_View]  RP9 [Vega]
ICGC DataPortalENSG00000164610
TCGA cBioPortalRP9
AceView (NCBI)RP9
Genatlas (Paris)RP9
WikiGenes6100
SOURCE (Princeton)RP9
Genetics Home Reference (NIH)RP9
Genomic and cartography
GoldenPath hg38 (UCSC)RP9  -     chr7:33094798-33109390 -  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RP9  -     7p14.3   [Description]    (hg19-Feb_2009)
EnsemblRP9 - 7p14.3 [CytoView hg19]  RP9 - 7p14.3 [CytoView hg38]
Mapping of homologs : NCBIRP9 [Mapview hg19]  RP9 [Mapview hg38]
OMIM180104   607331   
Gene and transcription
Genbank (Entrez)BC025928 EU447007
RefSeq transcript (Entrez)NM_203288
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RP9
Cluster EST : UnigeneHs.326805 [ NCBI ]
CGAP (NCI)Hs.326805
Alternative Splicing GalleryENSG00000164610
Gene ExpressionRP9 [ NCBI-GEO ]   RP9 [ EBI - ARRAY_EXPRESS ]   RP9 [ SEEK ]   RP9 [ MEM ]
Gene Expression Viewer (FireBrowse)RP9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6100
GTEX Portal (Tissue expression)RP9
Human Protein AtlasENSG00000164610-RP9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TA86   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TA86  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TA86
Splice isoforms : SwissVarQ8TA86
PhosPhoSitePlusQ8TA86
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RP9
DMDM Disease mutations6100
Blocks (Seattle)RP9
SuperfamilyQ8TA86
Human Protein Atlas [tissue]ENSG00000164610-RP9 [tissue]
Peptide AtlasQ8TA86
HPRD08457
IPIIPI00400824   IPI00917015   
Protein Interaction databases
DIP (DOE-UCLA)Q8TA86
IntAct (EBI)Q8TA86
FunCoupENSG00000164610
BioGRIDRP9
STRING (EMBL)RP9
ZODIACRP9
Ontologies - Pathways
QuickGOQ8TA86
Ontology : AmiGORNA binding  protein binding  nucleus  signal recognition particle receptor complex  cytosol  RNA splicing  metal ion binding  cognition  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  signal recognition particle receptor complex  cytosol  RNA splicing  metal ion binding  cognition  
NDEx NetworkRP9
Atlas of Cancer Signalling NetworkRP9
Wikipedia pathwaysRP9
Orthology - Evolution
OrthoDB6100
GeneTree (enSembl)ENSG00000164610
Phylogenetic Trees/Animal Genes : TreeFamRP9
HOVERGENQ8TA86
HOGENOMQ8TA86
Homologs : HomoloGeneRP9
Homology/Alignments : Family Browser (UCSC)RP9
Gene fusions - Rearrangements
Tumor Fusion PortalRP9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRP9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RP9
dbVarRP9
ClinVarRP9
1000_GenomesRP9 
Exome Variant ServerRP9
ExAC (Exome Aggregation Consortium)ENSG00000164610
GNOMAD BrowserENSG00000164610
Genetic variants : HAPMAP6100
Genomic Variants (DGV)RP9 [DGVbeta]
DECIPHERRP9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRP9 
Mutations
ICGC Data PortalRP9 
TCGA Data PortalRP9 
Broad Tumor PortalRP9
OASIS PortalRP9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRP9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRP9
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 RP9
DgiDB (Drug Gene Interaction Database)RP9
DoCM (Curated mutations)RP9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RP9 (select a term)
intoGenRP9
Cancer3DRP9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180104    607331   
Orphanet659   
DisGeNETRP9
MedgenRP9
Genetic Testing Registry RP9
NextProtQ8TA86 [Medical]
TSGene6100
GENETestsRP9
Target ValidationRP9
Huge Navigator RP9 [HugePedia]
snp3D : Map Gene to Disease6100
BioCentury BCIQRP9
ClinGenRP9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6100
Chemical/Pharm GKB GenePA34650
Clinical trialRP9
Miscellaneous
canSAR (ICR)RP9 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRP9
EVEXRP9
GoPubMedRP9
iHOPRP9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:17:05 CET 2017

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