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RSPH6A (radial spoke head 6 homolog A)

Identity

Alias_namesRSHL1
radial spokehead-like 1
radial spoke head 6 homolog A (Chlamydomonas)
Alias_symbol (synonym)RSP4
RSP6
RSPH4B
Other alias
HGNC (Hugo) RSPH6A
LocusID (NCBI) 81492
Atlas_Id 72912
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45795710 and ends at 45815347 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DMPK (19q13.32) / RSPH6A (19q13.32)RSPH6A (19q13.32) / DMWD (19q13.32)RSPH6A (19q13.32) / NCL (2q37.1)

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)RSPH6A   14241
Cards
Entrez_Gene (NCBI)RSPH6A  81492  radial spoke head 6 homolog A
AliasesRSHL1; RSP4; RSP6; RSPH4B
GeneCards (Weizmann)RSPH6A
Ensembl hg19 (Hinxton)ENSG00000104941 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104941 [Gene_View]  chr19:45795710-45815347 [Contig_View]  RSPH6A [Vega]
ICGC DataPortalENSG00000104941
TCGA cBioPortalRSPH6A
AceView (NCBI)RSPH6A
Genatlas (Paris)RSPH6A
WikiGenes81492
SOURCE (Princeton)RSPH6A
Genetics Home Reference (NIH)RSPH6A
Genomic and cartography
GoldenPath hg38 (UCSC)RSPH6A  -     chr19:45795710-45815347 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RSPH6A  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblRSPH6A - 19q13.32 [CytoView hg19]  RSPH6A - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIRSPH6A [Mapview hg19]  RSPH6A [Mapview hg38]
OMIM607548   
Gene and transcription
Genbank (Entrez)AK093068 AK098837 AK223347 AL136761 AM393487
RefSeq transcript (Entrez)NM_030785
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RSPH6A
Cluster EST : UnigeneHs.146544 [ NCBI ]
CGAP (NCI)Hs.146544
Alternative Splicing GalleryENSG00000104941
Gene ExpressionRSPH6A [ NCBI-GEO ]   RSPH6A [ EBI - ARRAY_EXPRESS ]   RSPH6A [ SEEK ]   RSPH6A [ MEM ]
Gene Expression Viewer (FireBrowse)RSPH6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81492
GTEX Portal (Tissue expression)RSPH6A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0K4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0K4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0K4
Splice isoforms : SwissVarQ9H0K4
PhosPhoSitePlusQ9H0K4
Domains : Interpro (EBI)Radial_spoke   
Domain families : Pfam (Sanger)Radial_spoke (PF04712)   
Domain families : Pfam (NCBI)pfam04712   
Conserved Domain (NCBI)RSPH6A
DMDM Disease mutations81492
Blocks (Seattle)RSPH6A
SuperfamilyQ9H0K4
Human Protein AtlasENSG00000104941
Peptide AtlasQ9H0K4
HPRD09611
IPIIPI00006541   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0K4
IntAct (EBI)Q9H0K4
FunCoupENSG00000104941
BioGRIDRSPH6A
STRING (EMBL)RSPH6A
ZODIACRSPH6A
Ontologies - Pathways
QuickGOQ9H0K4
Ontology : AmiGOintracellular  
Ontology : EGO-EBIintracellular  
NDEx NetworkRSPH6A
Atlas of Cancer Signalling NetworkRSPH6A
Wikipedia pathwaysRSPH6A
Orthology - Evolution
OrthoDB81492
GeneTree (enSembl)ENSG00000104941
Phylogenetic Trees/Animal Genes : TreeFamRSPH6A
HOVERGENQ9H0K4
HOGENOMQ9H0K4
Homologs : HomoloGeneRSPH6A
Homology/Alignments : Family Browser (UCSC)RSPH6A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRSPH6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSPH6A
dbVarRSPH6A
ClinVarRSPH6A
1000_GenomesRSPH6A 
Exome Variant ServerRSPH6A
ExAC (Exome Aggregation Consortium)RSPH6A (select the gene name)
Genetic variants : HAPMAP81492
Genomic Variants (DGV)RSPH6A [DGVbeta]
DECIPHERRSPH6A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRSPH6A 
Mutations
ICGC Data PortalRSPH6A 
TCGA Data PortalRSPH6A 
Broad Tumor PortalRSPH6A
OASIS PortalRSPH6A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRSPH6A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRSPH6A
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 RSPH6A
DgiDB (Drug Gene Interaction Database)RSPH6A
DoCM (Curated mutations)RSPH6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RSPH6A (select a term)
intoGenRSPH6A
Cancer3DRSPH6A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607548   
Orphanet
MedgenRSPH6A
Genetic Testing Registry RSPH6A
NextProtQ9H0K4 [Medical]
TSGene81492
GENETestsRSPH6A
Target ValidationRSPH6A
Huge Navigator RSPH6A [HugePedia]
snp3D : Map Gene to Disease81492
BioCentury BCIQRSPH6A
ClinGenRSPH6A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81492
Chemical/Pharm GKB GenePA34873
Clinical trialRSPH6A
Miscellaneous
canSAR (ICR)RSPH6A (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRSPH6A
EVEXRSPH6A
GoPubMedRSPH6A
iHOPRSPH6A
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 15:39:38 CEST 2017

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