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ELMOD3 (ELMO domain containing 3)

Identity

Alias_namesRBM29
RBED1
DFNB88
RNA binding motif protein 29
RNA binding motif and ELMO/CED-12 domain 1
deafness, autosomal recessive 88
ELMO/CED-12 domain containing 3
Alias_symbol (synonym)FLJ21977
Other aliasLST3
HGNC (Hugo) ELMOD3
LocusID (NCBI) 84173
Atlas_Id 54280
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 85354720 and ends at 85391752 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)
ELMOD3 (2p11.2) / TCF7L1 (2p11.2)ELMOD3 (2p11.2) / TTC27 (2p22.3)RSAD2 (2p25.2) / ELMOD3 (2p11.2)
USP39 (2p11.2) / ELMOD3 (2p11.2)ELMOD3 2p11.2 / TCF7L1 2p11.2ELMOD3 2p11.2 / TTC27 2p22.3
USP39 2p11.2 / ELMOD3 2p11.2

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p11;p25) RSAD2/ELMOD3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  ELMOD3/TCF7L1 (2p11)
USP39/ELMOD3 (2p11)
t(2;2)(p11;p22) ELMOD3/TTC27

External links

Nomenclature
HGNC (Hugo)ELMOD3   26158
Cards
Entrez_Gene (NCBI)ELMOD3  84173  ELMO domain containing 3
AliasesDFNB88; LST3; RBED1; RBM29
GeneCards (Weizmann)ELMOD3
Ensembl hg19 (Hinxton)ENSG00000115459 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115459 [Gene_View]  ENSG00000115459 [Sequence]  chr2:85354720-85391752 [Contig_View]  ELMOD3 [Vega]
ICGC DataPortalENSG00000115459
TCGA cBioPortalELMOD3
AceView (NCBI)ELMOD3
Genatlas (Paris)ELMOD3
WikiGenes84173
SOURCE (Princeton)ELMOD3
Genetics Home Reference (NIH)ELMOD3
Genomic and cartography
GoldenPath hg38 (UCSC)ELMOD3  -     chr2:85354720-85391752 +  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELMOD3  -     2p11.2   [Description]    (hg19-Feb_2009)
GoldenPathELMOD3 - 2p11.2 [CytoView hg19]  ELMOD3 - 2p11.2 [CytoView hg38]
ImmunoBaseENSG00000115459
Mapping of homologs : NCBIELMOD3 [Mapview hg19]  ELMOD3 [Mapview hg38]
OMIM615427   615429   
Gene and transcription
Genbank (Entrez)AF258573 AK092920 AK307252 AL713718 BC001942
RefSeq transcript (Entrez)NM_001135021 NM_001135022 NM_001135023 NM_001329791 NM_001329792 NM_001329793 NM_032213
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELMOD3
Cluster EST : UnigeneHs.269990 [ NCBI ]
CGAP (NCI)Hs.269990
Alternative Splicing GalleryENSG00000115459
Gene ExpressionELMOD3 [ NCBI-GEO ]   ELMOD3 [ EBI - ARRAY_EXPRESS ]   ELMOD3 [ SEEK ]   ELMOD3 [ MEM ]
Gene Expression Viewer (FireBrowse)ELMOD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84173
GTEX Portal (Tissue expression)ELMOD3
Human Protein AtlasENSG00000115459-ELMOD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96FG2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96FG2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96FG2
Splice isoforms : SwissVarQ96FG2
PhosPhoSitePlusQ96FG2
Domaine pattern : Prosite (Expaxy)ELMO (PS51335)   
Domains : Interpro (EBI)ELMO_dom    ELMOD3   
Domain families : Pfam (Sanger)ELMO_CED12 (PF04727)   
Domain families : Pfam (NCBI)pfam04727   
Conserved Domain (NCBI)ELMOD3
DMDM Disease mutations84173
Blocks (Seattle)ELMOD3
SuperfamilyQ96FG2
Human Protein Atlas [tissue]ENSG00000115459-ELMOD3 [tissue]
Peptide AtlasQ96FG2
HPRD07973
IPIIPI00827934   IPI00828119   IPI00828073   IPI00827571   IPI00796589   IPI00917936   IPI00916827   IPI00916422   IPI00917931   IPI00916899   IPI01014758   
Protein Interaction databases
DIP (DOE-UCLA)Q96FG2
IntAct (EBI)Q96FG2
FunCoupENSG00000115459
BioGRIDELMOD3
STRING (EMBL)ELMOD3
ZODIACELMOD3
Ontologies - Pathways
QuickGOQ96FG2
Ontology : AmiGOGTPase activator activity  protein binding  cytoplasm  cytoskeleton  stereocilium  positive regulation of GTPase activity  kinocilium  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytoplasm  cytoskeleton  stereocilium  positive regulation of GTPase activity  kinocilium  
NDEx NetworkELMOD3
Atlas of Cancer Signalling NetworkELMOD3
Wikipedia pathwaysELMOD3
Orthology - Evolution
OrthoDB84173
GeneTree (enSembl)ENSG00000115459
Phylogenetic Trees/Animal Genes : TreeFamELMOD3
HOGENOMQ96FG2
Homologs : HomoloGeneELMOD3
Homology/Alignments : Family Browser (UCSC)ELMOD3
Gene fusions - Rearrangements
Fusion : MitelmanELMOD3/TCF7L1 [2p11.2/2p11.2]  
Fusion : MitelmanELMOD3/TTC27 [2p11.2/2p22.3]  [t(2;2)(p11;p22)]  
Fusion : MitelmanRSAD2/ELMOD3 [2p25.2/2p11.2]  [t(2;2)(p11;p25)]  
Fusion : MitelmanUSP39/ELMOD3 [2p11.2/2p11.2]  [t(2;2)(p11;p11)]  
Fusion PortalELMOD3 2p11.2 TCF7L1 2p11.2 BRCA
Fusion PortalELMOD3 2p11.2 TTC27 2p22.3 BRCA
Fusion PortalUSP39 2p11.2 ELMOD3 2p11.2 BRCA
Fusion : QuiverELMOD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELMOD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELMOD3
dbVarELMOD3
ClinVarELMOD3
1000_GenomesELMOD3 
Exome Variant ServerELMOD3
ExAC (Exome Aggregation Consortium)ENSG00000115459
GNOMAD BrowserENSG00000115459
Varsome BrowserELMOD3
Genetic variants : HAPMAP84173
Genomic Variants (DGV)ELMOD3 [DGVbeta]
DECIPHERELMOD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELMOD3 
Mutations
ICGC Data PortalELMOD3 
TCGA Data PortalELMOD3 
Broad Tumor PortalELMOD3
OASIS PortalELMOD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELMOD3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DELMOD3
Mutations and Diseases : HGMDELMOD3
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 ELMOD3
DgiDB (Drug Gene Interaction Database)ELMOD3
DoCM (Curated mutations)ELMOD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELMOD3 (select a term)
intoGenELMOD3
Cancer3DELMOD3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615427    615429   
Orphanet12047   
DisGeNETELMOD3
MedgenELMOD3
Genetic Testing Registry ELMOD3
NextProtQ96FG2 [Medical]
TSGene84173
GENETestsELMOD3
Target ValidationELMOD3
Huge Navigator ELMOD3 [HugePedia]
snp3D : Map Gene to Disease84173
BioCentury BCIQELMOD3
ClinGenELMOD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84173
Chemical/Pharm GKB GenePA164719009
Clinical trialELMOD3
Miscellaneous
canSAR (ICR)ELMOD3 (select the gene name)
DataMed IndexELMOD3
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELMOD3
EVEXELMOD3
GoPubMedELMOD3
iHOPELMOD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:41:51 CET 2019
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