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SHPRH (SNF2 histone linker PHD RING helicase)

Identity

Alias_namesSNF2 histone linker PHD RING helicase
Alias_symbol (synonym)FLJ90837
KIAA2023
bA545I5.2
Other alias
HGNC (Hugo) SHPRH
LocusID (NCBI) 257218
Atlas_Id 42294
Location 6q24.3  [Link to chromosome band 6q24]
Location_base_pair Starts at 145884809 and ends at 145964097 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)
KLF6 (10p15.1) / SHPRH (6q24.3)SHPRH (6q24.3) / NDUFS5 (1p34.3)UTRN (6q24.2) / SHPRH (6q24.3)
SHPRH 6q24.3 / NDUFS5 1p34.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;6)(p34;q24) SHPRH/NDUFS5
UTRN/SHPRH (6q24)


External links

Nomenclature
HGNC (Hugo)SHPRH   19336
Cards
Entrez_Gene (NCBI)SHPRH  257218  SNF2 histone linker PHD RING helicase
AliasesbA545I5.2
GeneCards (Weizmann)SHPRH
Ensembl hg19 (Hinxton)ENSG00000146414 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146414 [Gene_View]  ENSG00000146414 [Sequence]  chr6:145884809-145964097 [Contig_View]  SHPRH [Vega]
ICGC DataPortalENSG00000146414
TCGA cBioPortalSHPRH
AceView (NCBI)SHPRH
Genatlas (Paris)SHPRH
WikiGenes257218
SOURCE (Princeton)SHPRH
Genetics Home Reference (NIH)SHPRH
Genomic and cartography
GoldenPath hg38 (UCSC)SHPRH  -     chr6:145884809-145964097 -  6q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHPRH  -     6q24.3   [Description]    (hg19-Feb_2009)
EnsemblSHPRH - 6q24.3 [CytoView hg19]  SHPRH - 6q24.3 [CytoView hg38]
Mapping of homologs : NCBISHPRH [Mapview hg19]  SHPRH [Mapview hg38]
OMIM608048   
Gene and transcription
Genbank (Entrez)AA315737 AB095943 AK075318 AK094944 AK126959
RefSeq transcript (Entrez)NM_001042683 NM_173082
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHPRH
Cluster EST : UnigeneHs.723297 [ NCBI ]
CGAP (NCI)Hs.723297
Alternative Splicing GalleryENSG00000146414
Gene ExpressionSHPRH [ NCBI-GEO ]   SHPRH [ EBI - ARRAY_EXPRESS ]   SHPRH [ SEEK ]   SHPRH [ MEM ]
Gene Expression Viewer (FireBrowse)SHPRH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)257218
GTEX Portal (Tissue expression)SHPRH
Human Protein AtlasENSG00000146414-SHPRH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ149N8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ149N8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ149N8
Splice isoforms : SwissVarQ149N8
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ149N8
Domaine pattern : Prosite (Expaxy)H15 (PS51504)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    ZF_PHD_1 (PS01359)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Helicase_ATP-bd    Helicase_C    Histone_H1/H5_H15    P-loop_NTPase    SNF2-like_sf    SNF2_N    WH-like_DNA-bd_sf    WH_DNA-bd_sf    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)Helicase_C (PF00271)    Linker_histone (PF00538)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam00271    pfam00538    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  H15 (SM00526)  HELICc (SM00490)  PHD (SM00249)  RING (SM00184)  
Conserved Domain (NCBI)SHPRH
DMDM Disease mutations257218
Blocks (Seattle)SHPRH
PDB (SRS)2M85    4QN1   
PDB (PDBSum)2M85    4QN1   
PDB (IMB)2M85    4QN1   
PDB (RSDB)2M85    4QN1   
Structural Biology KnowledgeBase2M85    4QN1   
SCOP (Structural Classification of Proteins)2M85    4QN1   
CATH (Classification of proteins structures)2M85    4QN1   
SuperfamilyQ149N8
Human Protein Atlas [tissue]ENSG00000146414-SHPRH [tissue]
Peptide AtlasQ149N8
HPRD10476
IPIIPI00845497   IPI00470931   IPI00746978   IPI00845433   IPI00552397   IPI00470627   IPI00984056   
Protein Interaction databases
DIP (DOE-UCLA)Q149N8
IntAct (EBI)Q149N8
FunCoupENSG00000146414
BioGRIDSHPRH
STRING (EMBL)SHPRH
ZODIACSHPRH
Ontologies - Pathways
QuickGOQ149N8
Ontology : AmiGOprotein polyubiquitination  nucleosome  DNA binding  helicase activity  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleoplasm  DNA repair  nucleosome assembly  cellular response to DNA damage stimulus  protein ubiquitination  ubiquitin protein ligase binding  metal ion binding  ubiquitin protein ligase activity  
Ontology : EGO-EBIprotein polyubiquitination  nucleosome  DNA binding  helicase activity  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleoplasm  DNA repair  nucleosome assembly  cellular response to DNA damage stimulus  protein ubiquitination  ubiquitin protein ligase binding  metal ion binding  ubiquitin protein ligase activity  
NDEx NetworkSHPRH
Atlas of Cancer Signalling NetworkSHPRH
Wikipedia pathwaysSHPRH
Orthology - Evolution
OrthoDB257218
GeneTree (enSembl)ENSG00000146414
Phylogenetic Trees/Animal Genes : TreeFamSHPRH
HOVERGENQ149N8
HOGENOMQ149N8
Homologs : HomoloGeneSHPRH
Homology/Alignments : Family Browser (UCSC)SHPRH
Gene fusions - Rearrangements
Fusion : MitelmanSHPRH/NDUFS5 [6q24.3/1p34.3]  
Fusion : MitelmanUTRN/SHPRH [6q24.2/6q24.3]  [t(6;6)(q24;q24)]  
Fusion PortalSHPRH 6q24.3 NDUFS5 1p34.3 BLCA
Fusion : QuiverSHPRH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHPRH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHPRH
dbVarSHPRH
ClinVarSHPRH
1000_GenomesSHPRH 
Exome Variant ServerSHPRH
ExAC (Exome Aggregation Consortium)ENSG00000146414
GNOMAD BrowserENSG00000146414
Varsome BrowserSHPRH
Genetic variants : HAPMAP257218
Genomic Variants (DGV)SHPRH [DGVbeta]
DECIPHERSHPRH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHPRH 
Mutations
ICGC Data PortalSHPRH 
TCGA Data PortalSHPRH 
Broad Tumor PortalSHPRH
OASIS PortalSHPRH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHPRH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHPRH
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 SHPRH
DgiDB (Drug Gene Interaction Database)SHPRH
DoCM (Curated mutations)SHPRH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHPRH (select a term)
intoGenSHPRH
Cancer3DSHPRH(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608048   
Orphanet
DisGeNETSHPRH
MedgenSHPRH
Genetic Testing Registry SHPRH
NextProtQ149N8 [Medical]
TSGene257218
GENETestsSHPRH
Target ValidationSHPRH
Huge Navigator SHPRH [HugePedia]
snp3D : Map Gene to Disease257218
BioCentury BCIQSHPRH
ClinGenSHPRH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD257218
Chemical/Pharm GKB GenePA134880315
Clinical trialSHPRH
Miscellaneous
canSAR (ICR)SHPRH (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHPRH
EVEXSHPRH
GoPubMedSHPRH
iHOPSHPRH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:39:00 CET 2018

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