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RD3 (retinal degeneration 3)

Identity

Other aliasC1orf36
LCA12
HGNC (Hugo) RD3
LocusID (NCBI) 343035
Atlas_Id 56744
Location 1q32.3  [Link to chromosome band 1q32]
Location_base_pair Starts at 211476522 and ends at 211492917 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)
RD3 (1q32.3) / PRPF4B (6p25.2)RD3 (1q32.3) / RD3 (1q32.3)

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)RD3   19689
Cards
Entrez_Gene (NCBI)RD3  343035  retinal degeneration 3
AliasesC1orf36; LCA12
GeneCards (Weizmann)RD3
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr1:211476522-211492917 [Contig_View]  RD3 [Vega]
TCGA cBioPortalRD3
AceView (NCBI)RD3
Genatlas (Paris)RD3
WikiGenes343035
SOURCE (Princeton)RD3
Genetics Home Reference (NIH)RD3
Genomic and cartography
GoldenPath hg38 (UCSC)RD3  -     chr1:211476522-211492917 -  1q32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RD3  -     1q32.3   [Description]    (hg19-Feb_2009)
EnsemblRD3 - 1q32.3 [CytoView hg19]  RD3 - 1q32.3 [CytoView hg38]
Mapping of homologs : NCBIRD3 [Mapview hg19]  RD3 [Mapview hg38]
OMIM180040   610612   
Gene and transcription
Genbank (Entrez)AK291210 AY191519 BC035651 BC065541 BX647803
RefSeq transcript (Entrez)NM_001164688 NM_183059
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RD3
Cluster EST : UnigeneHs.632495 [ NCBI ]
CGAP (NCI)Hs.632495
Gene ExpressionRD3 [ NCBI-GEO ]   RD3 [ EBI - ARRAY_EXPRESS ]   RD3 [ SEEK ]   RD3 [ MEM ]
Gene Expression Viewer (FireBrowse)RD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)343035
GTEX Portal (Tissue expression)RD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z3Z2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z3Z2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z3Z2
Splice isoforms : SwissVarQ7Z3Z2
PhosPhoSitePlusQ7Z3Z2
Domains : Interpro (EBI)RD3   
Domain families : Pfam (Sanger)RD3 (PF14473)   
Domain families : Pfam (NCBI)pfam14473   
Domain structure : Prodom (Prabi Lyon)PD822638 (PD822638)   
Conserved Domain (NCBI)RD3
DMDM Disease mutations343035
Blocks (Seattle)RD3
SuperfamilyQ7Z3Z2
Peptide AtlasQ7Z3Z2
IPIIPI00258037   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z3Z2
IntAct (EBI)Q7Z3Z2
BioGRIDRD3
STRING (EMBL)RD3
ZODIACRD3
Ontologies - Pathways
QuickGOQ7Z3Z2
Ontology : AmiGOprotein binding  visual perception  response to stimulus  retina development in camera-type eye  
Ontology : EGO-EBIprotein binding  visual perception  response to stimulus  retina development in camera-type eye  
NDEx NetworkRD3
Atlas of Cancer Signalling NetworkRD3
Wikipedia pathwaysRD3
Orthology - Evolution
OrthoDB343035
Phylogenetic Trees/Animal Genes : TreeFamRD3
HOVERGENQ7Z3Z2
HOGENOMQ7Z3Z2
Homologs : HomoloGeneRD3
Homology/Alignments : Family Browser (UCSC)RD3
Gene fusions - Rearrangements
Fusion: Tumor Portal RD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RD3
dbVarRD3
ClinVarRD3
1000_GenomesRD3 
Exome Variant ServerRD3
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP343035
Genomic Variants (DGV)RD3 [DGVbeta]
DECIPHERRD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRD3 
Mutations
ICGC Data PortalRD3 
TCGA Data PortalRD3 
Broad Tumor PortalRD3
OASIS PortalRD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRD3
BioMutasearch RD3
DgiDB (Drug Gene Interaction Database)RD3
DoCM (Curated mutations)RD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RD3 (select a term)
intoGenRD3
Cancer3DRD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180040    610612   
Orphanet
MedgenRD3
Genetic Testing Registry RD3
NextProtQ7Z3Z2 [Medical]
TSGene343035
GENETestsRD3
Target ValidationRD3
Huge Navigator RD3 [HugePedia]
snp3D : Map Gene to Disease343035
BioCentury BCIQRD3
ClinGenRD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD343035
Chemical/Pharm GKB GenePA162400998
Clinical trialRD3
Miscellaneous
canSAR (ICR)RD3 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRD3
EVEXRD3
GoPubMedRD3
iHOPRD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:08:22 CET 2017

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