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RSPH14 (radial spoke head 14 homolog)

Identity

Alias_namesRTDR1
rhabdoid tumor deletion region gene 1
radial spoke head 14 homolog (Chlamydomonas)
Other alias
HGNC (Hugo) RSPH14
LocusID (NCBI) 27156
Atlas_Id 42180
Location 22q11.22  [Link to chromosome band 22q11]
Location_base_pair Starts at 23059415 and ends at 23142054 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DEPDC1B (5q12.1) / RSPH14 (22q11.22)RSPH14 (22q11.22) / RSPH14 (22q11.22)RSPH14 (22q11.22) / SORCS2 (4p16.1)

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)RSPH14   13437
Cards
Entrez_Gene (NCBI)RSPH14  27156  radial spoke head 14 homolog
AliasesRTDR1
GeneCards (Weizmann)RSPH14
Ensembl hg19 (Hinxton)ENSG00000100218 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100218 [Gene_View]  chr22:23059415-23142054 [Contig_View]  RSPH14 [Vega]
ICGC DataPortalENSG00000100218
TCGA cBioPortalRSPH14
AceView (NCBI)RSPH14
Genatlas (Paris)RSPH14
WikiGenes27156
SOURCE (Princeton)RSPH14
Genetics Home Reference (NIH)RSPH14
Genomic and cartography
GoldenPath hg38 (UCSC)RSPH14  -     chr22:23059415-23142054 -  22q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RSPH14  -     22q11.22   [Description]    (hg19-Feb_2009)
EnsemblRSPH14 - 22q11.22 [CytoView hg19]  RSPH14 - 22q11.22 [CytoView hg38]
Mapping of homologs : NCBIRSPH14 [Mapview hg19]  RSPH14 [Mapview hg38]
OMIM605663   
Gene and transcription
Genbank (Entrez)AF133587 AK299530 AK310327 BC008986 CR456567
RefSeq transcript (Entrez)NM_014433
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RSPH14
Cluster EST : UnigeneHs.526920 [ NCBI ]
CGAP (NCI)Hs.526920
Alternative Splicing GalleryENSG00000100218
Gene ExpressionRSPH14 [ NCBI-GEO ]   RSPH14 [ EBI - ARRAY_EXPRESS ]   RSPH14 [ SEEK ]   RSPH14 [ MEM ]
Gene Expression Viewer (FireBrowse)RSPH14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27156
GTEX Portal (Tissue expression)RSPH14
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHP6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHP6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHP6
Splice isoforms : SwissVarQ9UHP6
PhosPhoSitePlusQ9UHP6
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Conserved Domain (NCBI)RSPH14
DMDM Disease mutations27156
Blocks (Seattle)RSPH14
SuperfamilyQ9UHP6
Human Protein AtlasENSG00000100218
Peptide AtlasQ9UHP6
HPRD16136
IPIIPI00004368   IPI00878449   IPI00880169   IPI00878139   IPI00877841   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHP6
IntAct (EBI)Q9UHP6
FunCoupENSG00000100218
BioGRIDRSPH14
STRING (EMBL)RSPH14
ZODIACRSPH14
Ontologies - Pathways
QuickGOQ9UHP6
Ontology : AmiGOmolecular_function  protein binding  cellular_component  biological_process  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  biological_process  
NDEx NetworkRSPH14
Atlas of Cancer Signalling NetworkRSPH14
Wikipedia pathwaysRSPH14
Orthology - Evolution
OrthoDB27156
GeneTree (enSembl)ENSG00000100218
Phylogenetic Trees/Animal Genes : TreeFamRSPH14
HOVERGENQ9UHP6
HOGENOMQ9UHP6
Homologs : HomoloGeneRSPH14
Homology/Alignments : Family Browser (UCSC)RSPH14
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRSPH14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSPH14
dbVarRSPH14
ClinVarRSPH14
1000_GenomesRSPH14 
Exome Variant ServerRSPH14
ExAC (Exome Aggregation Consortium)RSPH14 (select the gene name)
Genetic variants : HAPMAP27156
Genomic Variants (DGV)RSPH14 [DGVbeta]
DECIPHERRSPH14 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRSPH14 
Mutations
ICGC Data PortalRSPH14 
TCGA Data PortalRSPH14 
Broad Tumor PortalRSPH14
OASIS PortalRSPH14 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDRSPH14
BioMutasearch RSPH14
DgiDB (Drug Gene Interaction Database)RSPH14
DoCM (Curated mutations)RSPH14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RSPH14 (select a term)
intoGenRSPH14
Cancer3DRSPH14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605663   
Orphanet
MedgenRSPH14
Genetic Testing Registry RSPH14
NextProtQ9UHP6 [Medical]
TSGene27156
GENETestsRSPH14
Target ValidationRSPH14
Huge Navigator RSPH14 [HugePedia]
snp3D : Map Gene to Disease27156
BioCentury BCIQRSPH14
ClinGenRSPH14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27156
Chemical/Pharm GKB GenePA34878
Clinical trialRSPH14
Miscellaneous
canSAR (ICR)RSPH14 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRSPH14
EVEXRSPH14
GoPubMedRSPH14
iHOPRSPH14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:06:22 CEST 2017

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