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RPTN (repetin)

Identity

Alias_symbol (synonym)FLJ39117
Other alias-
HGNC (Hugo) RPTN
LocusID (NCBI) 126638
Atlas_Id 72880
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 152153595 and ends at 152159228 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)

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)RPTN   26809
Cards
Entrez_Gene (NCBI)RPTN  126638  repetin
Aliases
GeneCards (Weizmann)RPTN
Ensembl hg19 (Hinxton)ENSG00000215853 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215853 [Gene_View]  chr1:152153595-152159228 [Contig_View]  RPTN [Vega]
ICGC DataPortalENSG00000215853
TCGA cBioPortalRPTN
AceView (NCBI)RPTN
Genatlas (Paris)RPTN
WikiGenes126638
SOURCE (Princeton)RPTN
Genetics Home Reference (NIH)RPTN
Genomic and cartography
GoldenPath hg38 (UCSC)RPTN  -     chr1:152153595-152159228 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPTN  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblRPTN - 1q21.3 [CytoView hg19]  RPTN - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIRPTN [Mapview hg19]  RPTN [Mapview hg38]
OMIM613259   
Gene and transcription
Genbank (Entrez)AK096436 AY396742 BC112216 BC112218
RefSeq transcript (Entrez)NM_001122965 NM_152364
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPTN
Cluster EST : UnigeneHs.376144 [ NCBI ]
CGAP (NCI)Hs.376144
Alternative Splicing GalleryENSG00000215853
Gene ExpressionRPTN [ NCBI-GEO ]   RPTN [ EBI - ARRAY_EXPRESS ]   RPTN [ SEEK ]   RPTN [ MEM ]
Gene Expression Viewer (FireBrowse)RPTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126638
GTEX Portal (Tissue expression)RPTN
Human Protein AtlasENSG00000215853-RPTN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6XPR3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6XPR3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6XPR3
Splice isoforms : SwissVarQ6XPR3
PhosPhoSitePlusQ6XPR3
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    S100_CABP (PS00303)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    S-100_dom    S100/CaBP-9k_CS    S100_Ca-bd_sub   
Domain families : Pfam (Sanger)S_100 (PF01023)   
Domain families : Pfam (NCBI)pfam01023   
Domain families : Smart (EMBL)S_100 (SM01394)  
Conserved Domain (NCBI)RPTN
DMDM Disease mutations126638
Blocks (Seattle)RPTN
SuperfamilyQ6XPR3
Human Protein Atlas [tissue]ENSG00000215853-RPTN [tissue]
Peptide AtlasQ6XPR3
IPIIPI00455626   IPI01012605   
Protein Interaction databases
DIP (DOE-UCLA)Q6XPR3
IntAct (EBI)Q6XPR3
FunCoupENSG00000215853
BioGRIDRPTN
STRING (EMBL)RPTN
ZODIACRPTN
Ontologies - Pathways
QuickGOQ6XPR3
Ontology : AmiGOcornified envelope  calcium ion binding  proteinaceous extracellular matrix  cytosol  transition metal ion binding  cornification  
Ontology : EGO-EBIcornified envelope  calcium ion binding  proteinaceous extracellular matrix  cytosol  transition metal ion binding  cornification  
NDEx NetworkRPTN
Atlas of Cancer Signalling NetworkRPTN
Wikipedia pathwaysRPTN
Orthology - Evolution
OrthoDB126638
GeneTree (enSembl)ENSG00000215853
Phylogenetic Trees/Animal Genes : TreeFamRPTN
HOVERGENQ6XPR3
HOGENOMQ6XPR3
Homologs : HomoloGeneRPTN
Homology/Alignments : Family Browser (UCSC)RPTN
Gene fusions - Rearrangements
Tumor Fusion PortalRPTN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPTN
dbVarRPTN
ClinVarRPTN
1000_GenomesRPTN 
Exome Variant ServerRPTN
ExAC (Exome Aggregation Consortium)ENSG00000215853
GNOMAD BrowserENSG00000215853
Genetic variants : HAPMAP126638
Genomic Variants (DGV)RPTN [DGVbeta]
DECIPHERRPTN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPTN 
Mutations
ICGC Data PortalRPTN 
TCGA Data PortalRPTN 
Broad Tumor PortalRPTN
OASIS PortalRPTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPTN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPTN
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
BioMutasearch RPTN
DgiDB (Drug Gene Interaction Database)RPTN
DoCM (Curated mutations)RPTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPTN (select a term)
intoGenRPTN
Cancer3DRPTN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613259   
Orphanet
DisGeNETRPTN
MedgenRPTN
Genetic Testing Registry RPTN
NextProtQ6XPR3 [Medical]
TSGene126638
GENETestsRPTN
Target ValidationRPTN
Huge Navigator RPTN [HugePedia]
snp3D : Map Gene to Disease126638
BioCentury BCIQRPTN
ClinGenRPTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126638
Chemical/Pharm GKB GenePA142670970
Clinical trialRPTN
Miscellaneous
canSAR (ICR)RPTN (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPTN
EVEXRPTN
GoPubMedRPTN
iHOPRPTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:10:49 CET 2017

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