Atlas of Genetics and Cytogenetics in Oncology and Haematology


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P3H4 (prolyl 3-hydroxylase family member 4 (non-enzymatic))

Identity

Alias_namesLEPREL4
nucleolar autoantigen (55kD)
rat synaptonemal complex protein
leprecan-like 4
Alias_symbol (synonym)SC65
NO55
Other aliasNOL55
HGNC (Hugo) P3H4
LocusID (NCBI) 10609
Atlas_Id 76633
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 41801953 and ends at 41812199 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)
P3H4 (17q21.2) / MOAP1 (14q32.12)

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)P3H4   16946
Cards
Entrez_Gene (NCBI)P3H4  10609  prolyl 3-hydroxylase family member 4 (non-enzymatic)
AliasesLEPREL4; NO55; NOL55; SC65
GeneCards (Weizmann)P3H4
Ensembl hg19 (Hinxton)ENSG00000141696 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141696 [Gene_View]  chr17:41801953-41812199 [Contig_View]  P3H4 [Vega]
ICGC DataPortalENSG00000141696
TCGA cBioPortalP3H4
AceView (NCBI)P3H4
Genatlas (Paris)P3H4
WikiGenes10609
SOURCE (Princeton)P3H4
Genetics Home Reference (NIH)P3H4
Genomic and cartography
GoldenPath hg38 (UCSC)P3H4  -     chr17:41801953-41812199 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P3H4  -     17q21.2   [Description]    (hg19-Feb_2009)
EnsemblP3H4 - 17q21.2 [CytoView hg19]  P3H4 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIP3H4 [Mapview hg19]  P3H4 [Mapview hg38]
OMIM617419   
Gene and transcription
Genbank (Entrez)AJ250583 AK056016 AK056085 AK222945 AK301301
RefSeq transcript (Entrez)NM_006455
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P3H4
Cluster EST : UnigeneHs.446459 [ NCBI ]
CGAP (NCI)Hs.446459
Alternative Splicing GalleryENSG00000141696
Gene ExpressionP3H4 [ NCBI-GEO ]   P3H4 [ EBI - ARRAY_EXPRESS ]   P3H4 [ SEEK ]   P3H4 [ MEM ]
Gene Expression Viewer (FireBrowse)P3H4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10609
GTEX Portal (Tissue expression)P3H4
Human Protein AtlasENSG00000141696-P3H4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92791   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92791  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92791
Splice isoforms : SwissVarQ92791
PhosPhoSitePlusQ92791
Domains : Interpro (EBI)SC65    TPR-like_helical_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)P3H4
DMDM Disease mutations10609
Blocks (Seattle)P3H4
SuperfamilyQ92791
Human Protein Atlas [tissue]ENSG00000141696-P3H4 [tissue]
Peptide AtlasQ92791
HPRD10126
IPIIPI00978985   IPI00642798   
Protein Interaction databases
DIP (DOE-UCLA)Q92791
IntAct (EBI)Q92791
FunCoupENSG00000141696
BioGRIDP3H4
STRING (EMBL)P3H4
ZODIACP3H4
Ontologies - Pathways
QuickGOQ92791
Ontology : AmiGOcondensed nuclear chromosome  synaptonemal complex  nucleolus  synaptonemal complex assembly  
Ontology : EGO-EBIcondensed nuclear chromosome  synaptonemal complex  nucleolus  synaptonemal complex assembly  
NDEx NetworkP3H4
Atlas of Cancer Signalling NetworkP3H4
Wikipedia pathwaysP3H4
Orthology - Evolution
OrthoDB10609
GeneTree (enSembl)ENSG00000141696
Phylogenetic Trees/Animal Genes : TreeFamP3H4
HOVERGENQ92791
HOGENOMQ92791
Homologs : HomoloGeneP3H4
Homology/Alignments : Family Browser (UCSC)P3H4
Gene fusions - Rearrangements
Tumor Fusion PortalP3H4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP3H4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P3H4
dbVarP3H4
ClinVarP3H4
1000_GenomesP3H4 
Exome Variant ServerP3H4
ExAC (Exome Aggregation Consortium)ENSG00000141696
GNOMAD BrowserENSG00000141696
Genetic variants : HAPMAP10609
Genomic Variants (DGV)P3H4 [DGVbeta]
DECIPHERP3H4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP3H4 
Mutations
ICGC Data PortalP3H4 
TCGA Data PortalP3H4 
Broad Tumor PortalP3H4
OASIS PortalP3H4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDP3H4
BioMutasearch P3H4
DgiDB (Drug Gene Interaction Database)P3H4
DoCM (Curated mutations)P3H4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P3H4 (select a term)
intoGenP3H4
Cancer3DP3H4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617419   
Orphanet
DisGeNETP3H4
MedgenP3H4
Genetic Testing Registry P3H4
NextProtQ92791 [Medical]
TSGene10609
GENETestsP3H4
Target ValidationP3H4
Huge Navigator P3H4 [HugePedia]
snp3D : Map Gene to Disease10609
BioCentury BCIQP3H4
ClinGenP3H4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10609
Chemical/Pharm GKB GenePA166048948
Clinical trialP3H4
Miscellaneous
canSAR (ICR)P3H4 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP3H4
EVEXP3H4
GoPubMedP3H4
iHOPP3H4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 13:36:31 CET 2017

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