Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

R3HDM1 (R3H domain containing 1)

Identity

Alias_namesR3HDM
R3H domain (binds single-stranded nucleic acids) containing
Alias_symbol (synonym)KIAA0029
Other alias
HGNC (Hugo) R3HDM1
LocusID (NCBI) 23518
Atlas_Id 54568
Location 2q21.3  [Link to chromosome band 2q21]
Location_base_pair Starts at 136343893 and ends at 136482840 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GRB10 (7p12.1) / R3HDM1 (2q21.3)HPX (11p15.4) / R3HDM1 (2q21.3)R3HDM1 (2q21.3) / ANKRD30BL (2q21.2)
R3HDM1 (2q21.3) / MBD5 (2q23.1)R3HDM1 (2q21.3) / R3HDM1 (2q21.3)R3HDM1 (2q21.3) / YTHDC1 (4q13.2)
TMED5 (1p22.1) / R3HDM1 (2q21.3)UBXN4 (2q21.3) / R3HDM1 (2q21.3)UBXN4 2q21.3 / R3HDM1 2q21.3

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

 


External links

Nomenclature
HGNC (Hugo)R3HDM1   9757
Cards
Entrez_Gene (NCBI)R3HDM1  23518  R3H domain containing 1
AliasesR3HDM
GeneCards (Weizmann)R3HDM1
Ensembl hg19 (Hinxton)ENSG00000048991 [Gene_View]  chr2:136343893-136482840 [Contig_View]  R3HDM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000048991 [Gene_View]  chr2:136343893-136482840 [Contig_View]  R3HDM1 [Vega]
ICGC DataPortalENSG00000048991
TCGA cBioPortalR3HDM1
AceView (NCBI)R3HDM1
Genatlas (Paris)R3HDM1
WikiGenes23518
SOURCE (Princeton)R3HDM1
Genetics Home Reference (NIH)R3HDM1
Genomic and cartography
GoldenPath hg19 (UCSC)R3HDM1  -     chr2:136343893-136482840 +  2q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)R3HDM1  -     2q21.3   [Description]    (hg38-Dec_2013)
EnsemblR3HDM1 - 2q21.3 [CytoView hg19]  R3HDM1 - 2q21.3 [CytoView hg38]
Mapping of homologs : NCBIR3HDM1 [Mapview hg19]  R3HDM1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK026987 AK127793 AK290015 AK297000 AL704414
RefSeq transcript (Entrez)NM_001282798 NM_001282799 NM_001282800 NM_015361
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929304
Consensus coding sequences : CCDS (NCBI)R3HDM1
Cluster EST : UnigeneHs.412462 [ NCBI ]
CGAP (NCI)Hs.412462
Alternative Splicing GalleryENSG00000048991
Gene ExpressionR3HDM1 [ NCBI-GEO ]   R3HDM1 [ EBI - ARRAY_EXPRESS ]   R3HDM1 [ SEEK ]   R3HDM1 [ MEM ]
Gene Expression Viewer (FireBrowse)R3HDM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23518
GTEX Portal (Tissue expression)R3HDM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15032   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15032  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15032
Splice isoforms : SwissVarQ15032
PhosPhoSitePlusQ15032
Domaine pattern : Prosite (Expaxy)R3H (PS51061)    SUZ (PS51673)   
Domains : Interpro (EBI)R3H_dom    SUZ   
Domain families : Pfam (Sanger)R3H (PF01424)    SUZ (PF12752)   
Domain families : Pfam (NCBI)pfam01424    pfam12752   
Domain families : Smart (EMBL)R3H (SM00393)  
Conserved Domain (NCBI)R3HDM1
DMDM Disease mutations23518
Blocks (Seattle)R3HDM1
SuperfamilyQ15032
Human Protein AtlasENSG00000048991
Peptide AtlasQ15032
HPRD10180
IPIIPI00332932   IPI00847498   IPI00953332   IPI00917939   IPI00916859   IPI00916703   IPI00916011   IPI00915883   IPI00031498   IPI00916502   IPI00916835   IPI00917787   IPI00917076   
Protein Interaction databases
DIP (DOE-UCLA)Q15032
IntAct (EBI)Q15032
FunCoupENSG00000048991
BioGRIDR3HDM1
STRING (EMBL)R3HDM1
ZODIACR3HDM1
Ontologies - Pathways
QuickGOQ15032
Ontology : AmiGOpoly(A) RNA binding  
Ontology : EGO-EBIpoly(A) RNA binding  
NDEx NetworkR3HDM1
Atlas of Cancer Signalling NetworkR3HDM1
Wikipedia pathwaysR3HDM1
Orthology - Evolution
OrthoDB23518
GeneTree (enSembl)ENSG00000048991
Phylogenetic Trees/Animal Genes : TreeFamR3HDM1
HOVERGENQ15032
HOGENOMQ15032
Homologs : HomoloGeneR3HDM1
Homology/Alignments : Family Browser (UCSC)R3HDM1
Gene fusions - Rearrangements
Fusion : MitelmanR3HDM1/ANKRD30BL [2q21.3/2q21.2]  
Fusion : MitelmanUBXN4/R3HDM1 [2q21.3/2q21.3]  [t(2;2)(q21;q21)]  
Fusion: TCGAUBXN4 2q21.3 R3HDM1 2q21.3 BRCA LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerR3HDM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)R3HDM1
dbVarR3HDM1
ClinVarR3HDM1
1000_GenomesR3HDM1 
Exome Variant ServerR3HDM1
ExAC (Exome Aggregation Consortium)R3HDM1 (select the gene name)
Genetic variants : HAPMAP23518
Genomic Variants (DGV)R3HDM1 [DGVbeta]
DECIPHER (Syndromes)2:136343893-136482840  ENSG00000048991
CONAN: Copy Number AnalysisR3HDM1 
Mutations
ICGC Data PortalR3HDM1 
TCGA Data PortalR3HDM1 
Broad Tumor PortalR3HDM1
OASIS PortalR3HDM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICR3HDM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDR3HDM1
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 R3HDM1
DgiDB (Drug Gene Interaction Database)R3HDM1
DoCM (Curated mutations)R3HDM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)R3HDM1 (select a term)
intoGenR3HDM1
Cancer3DR3HDM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenR3HDM1
Genetic Testing Registry R3HDM1
NextProtQ15032 [Medical]
TSGene23518
GENETestsR3HDM1
Huge Navigator R3HDM1 [HugePedia]
snp3D : Map Gene to Disease23518
BioCentury BCIQR3HDM1
ClinGenR3HDM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23518
Chemical/Pharm GKB GenePA34098
Clinical trialR3HDM1
Miscellaneous
canSAR (ICR)R3HDM1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineR3HDM1
EVEXR3HDM1
GoPubMedR3HDM1
iHOPR3HDM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:16:23 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.