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RP1L1 (retinitis pigmentosa 1-like 1)

Identity

Alias_namesretinitis pigmentosa 1-like 1
Alias_symbol (synonym)DCDC4B
Other alias
HGNC (Hugo) RP1L1
LocusID (NCBI) 94137
Atlas_Id 72770
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 10463860 and ends at 10512617 bp from pter ( according to hg19-Feb_2009)

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)RP1L1   15946
Cards
Entrez_Gene (NCBI)RP1L1  94137  retinitis pigmentosa 1-like 1
AliasesDCDC4B
GeneCards (Weizmann)RP1L1
Ensembl hg19 (Hinxton)ENSG00000183638 [Gene_View]  chr8:10463860-10512617 [Contig_View]  RP1L1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183638 [Gene_View]  chr8:10463860-10512617 [Contig_View]  RP1L1 [Vega]
ICGC DataPortalENSG00000183638
TCGA cBioPortalRP1L1
AceView (NCBI)RP1L1
Genatlas (Paris)RP1L1
WikiGenes94137
SOURCE (Princeton)RP1L1
Genetics Home Reference (NIH)RP1L1
Genomic and cartography
GoldenPath hg19 (UCSC)RP1L1  -     chr8:10463860-10512617 -  8p23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RP1L1  -     8p23.1   [Description]    (hg38-Dec_2013)
EnsemblRP1L1 - 8p23.1 [CytoView hg19]  RP1L1 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIRP1L1 [Mapview hg19]  RP1L1 [Mapview hg38]
OMIM608581   613587   
Gene and transcription
Genbank (Entrez)AJ491324 AY168341 AY168342 AY168343 AY168344
RefSeq transcript (Entrez)NM_178857
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_028035 NT_077531 NW_004929336
Consensus coding sequences : CCDS (NCBI)RP1L1
Cluster EST : UnigeneHs.33538 [ NCBI ]
CGAP (NCI)Hs.33538
Alternative Splicing GalleryENSG00000183638
Gene ExpressionRP1L1 [ NCBI-GEO ]   RP1L1 [ EBI - ARRAY_EXPRESS ]   RP1L1 [ SEEK ]   RP1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)RP1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94137
GTEX Portal (Tissue expression)RP1L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWN7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWN7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWN7
Splice isoforms : SwissVarQ8IWN7
PhosPhoSitePlusQ8IWN7
Domaine pattern : Prosite (Expaxy)DC (PS50309)   
Domains : Interpro (EBI)Doublecortin_dom   
Domain families : Pfam (Sanger)DCX (PF03607)   
Domain families : Pfam (NCBI)pfam03607   
Conserved Domain (NCBI)RP1L1
DMDM Disease mutations94137
Blocks (Seattle)RP1L1
SuperfamilyQ8IWN7
Human Protein AtlasENSG00000183638
Peptide AtlasQ8IWN7
HPRD10546
IPIIPI00398728   IPI00398729   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWN7
IntAct (EBI)Q8IWN7
FunCoupENSG00000183638
BioGRIDRP1L1
STRING (EMBL)RP1L1
ZODIACRP1L1
Ontologies - Pathways
QuickGOQ8IWN7
Ontology : AmiGOphotoreceptor outer segment  microtubule  axoneme  visual perception  cell projection organization  photoreceptor connecting cilium  intracellular signal transduction  photoreceptor cell development  photoreceptor cell maintenance  photoreceptor cell maintenance  extracellular exosome  
Ontology : EGO-EBIphotoreceptor outer segment  microtubule  axoneme  visual perception  cell projection organization  photoreceptor connecting cilium  intracellular signal transduction  photoreceptor cell development  photoreceptor cell maintenance  photoreceptor cell maintenance  extracellular exosome  
NDEx NetworkRP1L1
Atlas of Cancer Signalling NetworkRP1L1
Wikipedia pathwaysRP1L1
Orthology - Evolution
OrthoDB94137
GeneTree (enSembl)ENSG00000183638
Phylogenetic Trees/Animal Genes : TreeFamRP1L1
HOVERGENQ8IWN7
HOGENOMQ8IWN7
Homologs : HomoloGeneRP1L1
Homology/Alignments : Family Browser (UCSC)RP1L1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRP1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RP1L1
dbVarRP1L1
ClinVarRP1L1
1000_GenomesRP1L1 
Exome Variant ServerRP1L1
ExAC (Exome Aggregation Consortium)RP1L1 (select the gene name)
Genetic variants : HAPMAP94137
Genomic Variants (DGV)RP1L1 [DGVbeta]
DECIPHER (Syndromes)8:10463860-10512617  ENSG00000183638
CONAN: Copy Number AnalysisRP1L1 
Mutations
ICGC Data PortalRP1L1 
TCGA Data PortalRP1L1 
Broad Tumor PortalRP1L1
OASIS PortalRP1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRP1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRP1L1
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 RP1L1
DgiDB (Drug Gene Interaction Database)RP1L1
DoCM (Curated mutations)RP1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RP1L1 (select a term)
intoGenRP1L1
Cancer3DRP1L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608581    613587   
Orphanet19554   
MedgenRP1L1
Genetic Testing Registry RP1L1
NextProtQ8IWN7 [Medical]
TSGene94137
GENETestsRP1L1
Huge Navigator RP1L1 [HugePedia]
snp3D : Map Gene to Disease94137
BioCentury BCIQRP1L1
ClinGenRP1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD94137
Chemical/Pharm GKB GenePA34640
Clinical trialRP1L1
Miscellaneous
canSAR (ICR)RP1L1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRP1L1
EVEXRP1L1
GoPubMedRP1L1
iHOPRP1L1
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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