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RSPH1 (radial spoke head 1 homolog)

Identity

Alias_namesTSGA2
testis specific A2 homolog (mouse)
radial spoke head 1 homolog (Chlamydomonas)
Alias_symbol (synonym)FLJ32753
RSP44
RSPH10A
CILD24
Other aliasCT79
TSA2
HGNC (Hugo) RSPH1
LocusID (NCBI) 89765
Atlas_Id 72906
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42472486 and ends at 42496354 bp from pter ( according to hg38-Dec_2013)

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)RSPH1   12371
Cards
Entrez_Gene (NCBI)RSPH1  89765  radial spoke head 1 homolog
AliasesCT79; RSP44; RSPH10A; TSA2; 
TSGA2
GeneCards (Weizmann)RSPH1
Ensembl hg19 (Hinxton)ENSG00000160188 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160188 [Gene_View]  chr21:42472486-42496354 [Contig_View]  RSPH1 [Vega]
ICGC DataPortalENSG00000160188
TCGA cBioPortalRSPH1
AceView (NCBI)RSPH1
Genatlas (Paris)RSPH1
WikiGenes89765
SOURCE (Princeton)RSPH1
Genetics Home Reference (NIH)RSPH1
Genomic and cartography
GoldenPath hg38 (UCSC)RSPH1  -     chr21:42472486-42496354 -  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RSPH1  -     21q22.3   [Description]    (hg19-Feb_2009)
EnsemblRSPH1 - 21q22.3 [CytoView hg19]  RSPH1 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIRSPH1 [Mapview hg19]  RSPH1 [Mapview hg38]
OMIM609314   615481   
Gene and transcription
Genbank (Entrez)AB006536 AB041016 AK057315 AK314746 BC101519
RefSeq transcript (Entrez)NM_001286506 NM_080860
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RSPH1
Cluster EST : UnigeneHs.661069 [ NCBI ]
CGAP (NCI)Hs.661069
Alternative Splicing GalleryENSG00000160188
Gene ExpressionRSPH1 [ NCBI-GEO ]   RSPH1 [ EBI - ARRAY_EXPRESS ]   RSPH1 [ SEEK ]   RSPH1 [ MEM ]
Gene Expression Viewer (FireBrowse)RSPH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89765
GTEX Portal (Tissue expression)RSPH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WYR4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WYR4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WYR4
Splice isoforms : SwissVarQ8WYR4
PhosPhoSitePlusQ8WYR4
Domains : Interpro (EBI)MORN   
Domain families : Pfam (Sanger)MORN (PF02493)   
Domain families : Pfam (NCBI)pfam02493   
Domain families : Smart (EMBL)MORN (SM00698)  
Conserved Domain (NCBI)RSPH1
DMDM Disease mutations89765
Blocks (Seattle)RSPH1
SuperfamilyQ8WYR4
Human Protein AtlasENSG00000160188
Peptide AtlasQ8WYR4
HPRD11651
IPIIPI00103777   IPI00797170   
Protein Interaction databases
DIP (DOE-UCLA)Q8WYR4
IntAct (EBI)Q8WYR4
FunCoupENSG00000160188
BioGRIDRSPH1
STRING (EMBL)RSPH1
ZODIACRSPH1
Ontologies - Pathways
QuickGOQ8WYR4
Ontology : AmiGOcondensed nuclear chromosome  outer dense fiber  protein binding  nucleus  cytosol  spermatid development  motile cilium  axoneme assembly  meiotic cell cycle  meiotic spindle  
Ontology : EGO-EBIcondensed nuclear chromosome  outer dense fiber  protein binding  nucleus  cytosol  spermatid development  motile cilium  axoneme assembly  meiotic cell cycle  meiotic spindle  
NDEx NetworkRSPH1
Atlas of Cancer Signalling NetworkRSPH1
Wikipedia pathwaysRSPH1
Orthology - Evolution
OrthoDB89765
GeneTree (enSembl)ENSG00000160188
Phylogenetic Trees/Animal Genes : TreeFamRSPH1
HOVERGENQ8WYR4
HOGENOMQ8WYR4
Homologs : HomoloGeneRSPH1
Homology/Alignments : Family Browser (UCSC)RSPH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRSPH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSPH1
dbVarRSPH1
ClinVarRSPH1
1000_GenomesRSPH1 
Exome Variant ServerRSPH1
ExAC (Exome Aggregation Consortium)RSPH1 (select the gene name)
Genetic variants : HAPMAP89765
Genomic Variants (DGV)RSPH1 [DGVbeta]
DECIPHERRSPH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRSPH1 
Mutations
ICGC Data PortalRSPH1 
TCGA Data PortalRSPH1 
Broad Tumor PortalRSPH1
OASIS PortalRSPH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRSPH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRSPH1
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 RSPH1
DgiDB (Drug Gene Interaction Database)RSPH1
DoCM (Curated mutations)RSPH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RSPH1 (select a term)
intoGenRSPH1
Cancer3DRSPH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609314    615481   
Orphanet665   
MedgenRSPH1
Genetic Testing Registry RSPH1
NextProtQ8WYR4 [Medical]
TSGene89765
GENETestsRSPH1
Target ValidationRSPH1
Huge Navigator RSPH1 [HugePedia]
snp3D : Map Gene to Disease89765
BioCentury BCIQRSPH1
ClinGenRSPH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD89765
Chemical/Pharm GKB GenePA162402177
Clinical trialRSPH1
Miscellaneous
canSAR (ICR)RSPH1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRSPH1
EVEXRSPH1
GoPubMedRSPH1
iHOPRSPH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:39:37 CEST 2017

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