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RSPH14 (radial spoke head 14 homolog)

Identity

Alias (NCBI)RTDR1
HGNC (Hugo) RSPH14
HGNC Previous nameRTDR1
HGNC Previous namerhabdoid tumor deletion region gene 1
 radial spoke head 14 homolog (Chlamydomonas)
LocusID (NCBI) 27156
Atlas_Id 42180
Location 22q11.22  [Link to chromosome band 22q11]
Location_base_pair Starts at 23059415 and ends at 23141990 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)
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    radial spoke head 14 homolog
AliasesRTDR1
GeneCards (Weizmann)RSPH14
Ensembl hg19 (Hinxton)ENSG00000100218 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100218 [Gene_View]  ENSG00000100218 [Sequence]  chr22:23059415-23141990 [Contig_View]  RSPH14 [Vega]
ICGC DataPortalENSG00000100218
TCGA cBioPortalRSPH14
AceView (NCBI)RSPH14
Genatlas (Paris)RSPH14
SOURCE (Princeton)RSPH14
Genetics Home Reference (NIH)RSPH14
Genomic and cartography
GoldenPath hg38 (UCSC)RSPH14  -     chr22:23059415-23141990 -  22q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RSPH14  -     22q11.22   [Description]    (hg19-Feb_2009)
GoldenPathRSPH14 - 22q11.22 [CytoView hg19]  RSPH14 - 22q11.22 [CytoView hg38]
ImmunoBaseENSG00000100218
Genome Data Viewer NCBIRSPH14 [Mapview hg19]  
OMIM605663   
Gene and transcription
Genbank (Entrez)AF133587 AK299530 AK310327 BC008986 CR456567
RefSeq transcript (Entrez)NM_014433
Consensus coding sequences : CCDS (NCBI)RSPH14
Gene ExpressionRSPH14 [ NCBI-GEO ]   RSPH14 [ EBI - ARRAY_EXPRESS ]   RSPH14 [ SEEK ]   RSPH14 [ MEM ]
Gene Expression Viewer (FireBrowse)RSPH14 [ Firebrowse - Broad ]
GenevisibleExpression of RSPH14 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27156
GTEX Portal (Tissue expression)RSPH14
Human Protein AtlasENSG00000100218-RSPH14 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UHP6
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    RSP14   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Conserved Domain (NCBI)RSPH14
SuperfamilyQ9UHP6
AlphaFold pdb e-kbQ9UHP6   
Human Protein Atlas [tissue]ENSG00000100218-RSPH14 [tissue]
HPRD16136
Protein Interaction databases
DIP (DOE-UCLA)Q9UHP6
IntAct (EBI)Q9UHP6
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
Homologs : HomoloGeneRSPH14
Homology/Alignments : Family Browser (UCSC)RSPH14
Gene fusions - Rearrangements
Fusion : QuiverRSPH14
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRSPH14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSPH14
dbVarRSPH14
ClinVarRSPH14
MonarchRSPH14
1000_GenomesRSPH14 
Exome Variant ServerRSPH14
GNOMAD BrowserENSG00000100218
Varsome BrowserRSPH14
ACMGRSPH14 variants
VarityQ9UHP6
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]
Somatic Mutations in Cancer : COSMICRSPH14  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRSPH14
Mutations and Diseases : HGMDRSPH14
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRSPH14
DgiDB (Drug Gene Interaction Database)RSPH14
DoCM (Curated mutations)RSPH14
CIViC (Clinical Interpretations of Variants in Cancer)RSPH14
Cancer3DRSPH14
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605663   
Orphanet
DisGeNETRSPH14
MedgenRSPH14
Genetic Testing Registry RSPH14
NextProtQ9UHP6 [Medical]
GENETestsRSPH14
Target ValidationRSPH14
Huge Navigator RSPH14 [HugePedia]
ClinGenRSPH14
Clinical trials, drugs, therapy
MyCancerGenomeRSPH14
Protein Interactions : CTDRSPH14
Pharm GKB GenePA34878
PharosQ9UHP6
Clinical trialRSPH14
Miscellaneous
canSAR (ICR)RSPH14
HarmonizomeRSPH14
DataMed IndexRSPH14
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRSPH14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:29:46 CEST 2021

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