Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ELAC1 (elaC ribonuclease Z 1)

Identity

Alias_nameselaC (E. coli) homolog 1
elaC homolog 1 (E. coli)
Alias_symbol (synonym)D29
Other alias
HGNC (Hugo) ELAC1
LocusID (NCBI) 55520
Atlas_Id 40436
Location 18q21.2  [Link to chromosome band 18q21]
Location_base_pair Starts at 50968017 and ends at 50988120 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)
CHL1 (3p26.3) / ELAC1 (18q21.2)ELAC1 (18q21.2) / SMAD4 (18q21.2)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  ELAC1/SMAD4 (18q21)

External links

Nomenclature
HGNC (Hugo)ELAC1   14197
Cards
Entrez_Gene (NCBI)ELAC1  55520  elaC ribonuclease Z 1
AliasesD29
GeneCards (Weizmann)ELAC1
Ensembl hg19 (Hinxton)ENSG00000141642 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141642 [Gene_View]  ENSG00000141642 [Sequence]  chr18:50968017-50988120 [Contig_View]  ELAC1 [Vega]
ICGC DataPortalENSG00000141642
TCGA cBioPortalELAC1
AceView (NCBI)ELAC1
Genatlas (Paris)ELAC1
WikiGenes55520
SOURCE (Princeton)ELAC1
Genetics Home Reference (NIH)ELAC1
Genomic and cartography
GoldenPath hg38 (UCSC)ELAC1  -     chr18:50968017-50988120 +  18q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELAC1  -     18q21.2   [Description]    (hg19-Feb_2009)
GoldenPathELAC1 - 18q21.2 [CytoView hg19]  ELAC1 - 18q21.2 [CytoView hg38]
ImmunoBaseENSG00000141642
Mapping of homologs : NCBIELAC1 [Mapview hg19]  ELAC1 [Mapview hg38]
OMIM608079   
Gene and transcription
Genbank (Entrez)AB029151 AF308695 AI870985 AK024822 AK223507
RefSeq transcript (Entrez)NM_018696
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELAC1
Cluster EST : UnigeneHs.657360 [ NCBI ]
CGAP (NCI)Hs.657360
Alternative Splicing GalleryENSG00000141642
Gene ExpressionELAC1 [ NCBI-GEO ]   ELAC1 [ EBI - ARRAY_EXPRESS ]   ELAC1 [ SEEK ]   ELAC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELAC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55520
GTEX Portal (Tissue expression)ELAC1
Human Protein AtlasENSG00000141642-ELAC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H777   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H777  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H777
Splice isoforms : SwissVarQ9H777
Catalytic activity : Enzyme3.1.26.11 [ Enzyme-Expasy ]   3.1.26.113.1.26.11 [ IntEnz-EBI ]   3.1.26.11 [ BRENDA ]   3.1.26.11 [ KEGG ]   
PhosPhoSitePlusQ9H777
Domains : Interpro (EBI)Metallo-B-lactamas    RibonucZ/Hydroxyglut_hydro    RNase_Z/BN   
Domain families : Pfam (Sanger)Lactamase_B (PF00753)    Lactamase_B_2 (PF12706)   
Domain families : Pfam (NCBI)pfam00753    pfam12706   
Conserved Domain (NCBI)ELAC1
DMDM Disease mutations55520
Blocks (Seattle)ELAC1
PDB (RSDB)3ZWF   
PDB Europe3ZWF   
PDB (PDBSum)3ZWF   
PDB (IMB)3ZWF   
Structural Biology KnowledgeBase3ZWF   
SCOP (Structural Classification of Proteins)3ZWF   
CATH (Classification of proteins structures)3ZWF   
SuperfamilyQ9H777
Human Protein Atlas [tissue]ENSG00000141642-ELAC1 [tissue]
Peptide AtlasQ9H777
HPRD16275
IPIIPI00302979   
Protein Interaction databases
DIP (DOE-UCLA)Q9H777
IntAct (EBI)Q9H777
FunCoupENSG00000141642
BioGRIDELAC1
STRING (EMBL)ELAC1
ZODIACELAC1
Ontologies - Pathways
QuickGOQ9H777
Ontology : AmiGOnucleus  nucleus  cytosol  tRNA 3'-trailer cleavage, endonucleolytic  3'-tRNA processing endoribonuclease activity  metal ion binding  
Ontology : EGO-EBInucleus  nucleus  cytosol  tRNA 3'-trailer cleavage, endonucleolytic  3'-tRNA processing endoribonuclease activity  metal ion binding  
Pathways : KEGGRNA transport   
NDEx NetworkELAC1
Atlas of Cancer Signalling NetworkELAC1
Wikipedia pathwaysELAC1
Orthology - Evolution
OrthoDB55520
GeneTree (enSembl)ENSG00000141642
Phylogenetic Trees/Animal Genes : TreeFamELAC1
HOGENOMQ9H777
Homologs : HomoloGeneELAC1
Homology/Alignments : Family Browser (UCSC)ELAC1
Gene fusions - Rearrangements
Fusion : MitelmanELAC1/SMAD4 [18q21.2/18q21.2]  
Fusion : QuiverELAC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELAC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELAC1
dbVarELAC1
ClinVarELAC1
1000_GenomesELAC1 
Exome Variant ServerELAC1
ExAC (Exome Aggregation Consortium)ENSG00000141642
GNOMAD BrowserENSG00000141642
Varsome BrowserELAC1
Genetic variants : HAPMAP55520
Genomic Variants (DGV)ELAC1 [DGVbeta]
DECIPHERELAC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELAC1 
Mutations
ICGC Data PortalELAC1 
TCGA Data PortalELAC1 
Broad Tumor PortalELAC1
OASIS PortalELAC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELAC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DELAC1
Mutations and Diseases : HGMDELAC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ELAC1
DgiDB (Drug Gene Interaction Database)ELAC1
DoCM (Curated mutations)ELAC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELAC1 (select a term)
intoGenELAC1
Cancer3DELAC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608079   
Orphanet
DisGeNETELAC1
MedgenELAC1
Genetic Testing Registry ELAC1
NextProtQ9H777 [Medical]
TSGene55520
GENETestsELAC1
Target ValidationELAC1
Huge Navigator ELAC1 [HugePedia]
snp3D : Map Gene to Disease55520
BioCentury BCIQELAC1
ClinGenELAC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55520
Chemical/Pharm GKB GenePA27738
Clinical trialELAC1
Miscellaneous
canSAR (ICR)ELAC1 (select the gene name)
DataMed IndexELAC1
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELAC1
EVEXELAC1
GoPubMedELAC1
iHOPELAC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:41:47 CET 2019
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