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PRR30 (proline rich 30)

Identity

Alias (NCBI)C2orf53
HGNC (Hugo) PRR30
HGNC Alias symbMGC44505
HGNC Previous nameC2orf53
HGNC Previous namechromosome 2 open reading frame 53
LocusID (NCBI) 339779
Atlas_Id 72281
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27136847 and ends at 27139464 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)PRR30   28677
Cards
Entrez_Gene (NCBI)PRR30    proline rich 30
AliasesC2orf53
GeneCards (Weizmann)PRR30
Ensembl hg19 (Hinxton)ENSG00000186143 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186143 [Gene_View]  ENSG00000186143 [Sequence]  chr2:27136847-27139464 [Contig_View]  PRR30 [Vega]
ICGC DataPortalENSG00000186143
TCGA cBioPortalPRR30
AceView (NCBI)PRR30
Genatlas (Paris)PRR30
SOURCE (Princeton)PRR30
Genetics Home Reference (NIH)PRR30
Genomic and cartography
GoldenPath hg38 (UCSC)PRR30  -     chr2:27136847-27139464 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRR30  -     2p23.3   [Description]    (hg19-Feb_2009)
GoldenPathPRR30 - 2p23.3 [CytoView hg19]  PRR30 - 2p23.3 [CytoView hg38]
ImmunoBaseENSG00000186143
genome Data Viewer NCBIPRR30 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA812952 BC045671 BX118458 DB022743 DB052016
RefSeq transcript (Entrez)NM_178553
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRR30
Alternative Splicing GalleryENSG00000186143
Gene ExpressionPRR30 [ NCBI-GEO ]   PRR30 [ EBI - ARRAY_EXPRESS ]   PRR30 [ SEEK ]   PRR30 [ MEM ]
Gene Expression Viewer (FireBrowse)PRR30 [ Firebrowse - Broad ]
GenevisibleExpression of PRR30 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)339779
GTEX Portal (Tissue expression)PRR30
Human Protein AtlasENSG00000186143-PRR30 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53SZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53SZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53SZ7
Splice isoforms : SwissVarQ53SZ7
PhosPhoSitePlusQ53SZ7
Domains : Interpro (EBI)DUF4679   
Domain families : Pfam (Sanger)DUF4679 (PF15728)   
Domain families : Pfam (NCBI)pfam15728   
Conserved Domain (NCBI)PRR30
Blocks (Seattle)PRR30
SuperfamilyQ53SZ7
Human Protein Atlas [tissue]ENSG00000186143-PRR30 [tissue]
Peptide AtlasQ53SZ7
HPRD14633
IPIIPI00328712   IPI00867641   
Protein Interaction databases
DIP (DOE-UCLA)Q53SZ7
IntAct (EBI)Q53SZ7
BioGRIDPRR30
STRING (EMBL)PRR30
ZODIACPRR30
Ontologies - Pathways
QuickGOQ53SZ7
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkPRR30
Atlas of Cancer Signalling NetworkPRR30
Wikipedia pathwaysPRR30
Orthology - Evolution
OrthoDB339779
GeneTree (enSembl)ENSG00000186143
Phylogenetic Trees/Animal Genes : TreeFamPRR30
HOGENOMQ53SZ7
Homologs : HomoloGenePRR30
Homology/Alignments : Family Browser (UCSC)PRR30
Gene fusions - Rearrangements
Fusion : QuiverPRR30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRR30 [hg38]
dbVarPRR30
ClinVarPRR30
MonarchPRR30
1000_GenomesPRR30 
Exome Variant ServerPRR30
GNOMAD BrowserENSG00000186143
Varsome BrowserPRR30
Genomic Variants (DGV)PRR30 [DGVbeta]
DECIPHERPRR30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRR30 
Mutations
ICGC Data PortalPRR30 
TCGA Data PortalPRR30 
Broad Tumor PortalPRR30
OASIS PortalPRR30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRR30  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPRR30
Mutations and Diseases : HGMDPRR30
BioMutasearch PRR30
DgiDB (Drug Gene Interaction Database)PRR30
DoCM (Curated mutations)PRR30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRR30 (select a term)
intoGenPRR30
Cancer3DPRR30(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPRR30
MedgenPRR30
Genetic Testing Registry PRR30
NextProtQ53SZ7 [Medical]
GENETestsPRR30
Target ValidationPRR30
Huge Navigator PRR30 [HugePedia]
ClinGenPRR30
Clinical trials, drugs, therapy
MyCancerGenomePRR30
Protein Interactions : CTD
Pharm GKB GenePA162379215
Clinical trialPRR30
Miscellaneous
canSAR (ICR)PRR30 (select the gene name)
HarmonizomePRR30
DataMed IndexPRR30
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRR30
EVEXPRR30
GoPubMedPRR30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:23:39 CET 2020
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