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ETHE1 (ethylmalonic encephalopathy 1)

Identity

Alias_namesethylmalonic encephalopathy 1
Alias_symbol (synonym)YF13H12
HSCO
Other alias
HGNC (Hugo) ETHE1
LocusID (NCBI) 23474
Atlas_Id 62929
Location 19q13.31  [Link to chromosome band 19q13]
Location_base_pair Starts at 44010871 and ends at 44031396 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ETHE1 (19q13.31) / BMP5 (6p12.1)ETHE1 (19q13.31) / CADM4 (19q13.31)ETHE1 (19q13.31) / DIAPH2 (Xq21.33)
ETHE1 (19q13.31) / UPK3A (22q13.31)QPCTL (19q13.32) / ETHE1 (19q13.31)SIPA1L3 (19q13.13) / ETHE1 (19q13.31)
ULK1 (12q24.33) / ETHE1 (19q13.31)ZNF791 (19p13.2) / ETHE1 (19q13.31)SIPA1L3 ETHE1
QPCTL ETHE1ZNF791 ETHE1ETHE1 CADM4
ETHE1 UPK3A

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)ETHE1   23287
Cards
Entrez_Gene (NCBI)ETHE1  23474  ethylmalonic encephalopathy 1
AliasesHSCO; YF13H12
GeneCards (Weizmann)ETHE1
Ensembl hg19 (Hinxton)ENSG00000105755 [Gene_View]  chr19:44010871-44031396 [Contig_View]  ETHE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000105755 [Gene_View]  chr19:44010871-44031396 [Contig_View]  ETHE1 [Vega]
ICGC DataPortalENSG00000105755
TCGA cBioPortalETHE1
AceView (NCBI)ETHE1
Genatlas (Paris)ETHE1
WikiGenes23474
SOURCE (Princeton)ETHE1
Genetics Home Reference (NIH)ETHE1
Genomic and cartography
GoldenPath hg19 (UCSC)ETHE1  -     chr19:44010871-44031396 -  19q13.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ETHE1  -     19q13.31   [Description]    (hg38-Dec_2013)
EnsemblETHE1 - 19q13.31 [CytoView hg19]  ETHE1 - 19q13.31 [CytoView hg38]
Mapping of homologs : NCBIETHE1 [Mapview hg19]  ETHE1 [Mapview hg38]
OMIM602473   608451   
Gene and transcription
Genbank (Entrez)AI879202 AK309880 AK315346 AM392804 BC008250
RefSeq transcript (Entrez)NM_014297
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_008141 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)ETHE1
Cluster EST : UnigeneHs.7486 [ NCBI ]
CGAP (NCI)Hs.7486
Alternative Splicing GalleryENSG00000105755
Gene ExpressionETHE1 [ NCBI-GEO ]   ETHE1 [ EBI - ARRAY_EXPRESS ]   ETHE1 [ SEEK ]   ETHE1 [ MEM ]
Gene Expression Viewer (FireBrowse)ETHE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23474
GTEX Portal (Tissue expression)ETHE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95571   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95571  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95571
Splice isoforms : SwissVarO95571
Catalytic activity : Enzyme1.13.11.18 [ Enzyme-Expasy ]   1.13.11.181.13.11.18 [ IntEnz-EBI ]   1.13.11.18 [ BRENDA ]   1.13.11.18 [ KEGG ]   
PhosPhoSitePlusO95571
Domains : Interpro (EBI)Beta-lactamas-like   
Domain families : Pfam (Sanger)Lactamase_B (PF00753)   
Domain families : Pfam (NCBI)pfam00753   
Domain families : Smart (EMBL)Lactamase_B (SM00849)  
Conserved Domain (NCBI)ETHE1
DMDM Disease mutations23474
Blocks (Seattle)ETHE1
PDB (SRS)4CHL   
PDB (PDBSum)4CHL   
PDB (IMB)4CHL   
PDB (RSDB)4CHL   
Structural Biology KnowledgeBase4CHL   
SCOP (Structural Classification of Proteins)4CHL   
CATH (Classification of proteins structures)4CHL   
SuperfamilyO95571
Human Protein AtlasENSG00000105755
Peptide AtlasO95571
HPRD09764
IPIIPI00003766   
Protein Interaction databases
DIP (DOE-UCLA)O95571
IntAct (EBI)O95571
FunCoupENSG00000105755
BioGRIDETHE1
STRING (EMBL)ETHE1
ZODIACETHE1
Ontologies - Pathways
QuickGOO95571
Ontology : AmiGOsulfur amino acid metabolic process  sulfur amino acid catabolic process  iron ion binding  nucleoplasm  cytoplasm  mitochondrion  mitochondrial matrix  glutathione metabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  sulfur dioxygenase activity  sulfur dioxygenase activity  sulfide oxidation, using sulfide:quinone oxidoreductase  hydrogen sulfide metabolic process  
Ontology : EGO-EBIsulfur amino acid metabolic process  sulfur amino acid catabolic process  iron ion binding  nucleoplasm  cytoplasm  mitochondrion  mitochondrial matrix  glutathione metabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  sulfur dioxygenase activity  sulfur dioxygenase activity  sulfide oxidation, using sulfide:quinone oxidoreductase  hydrogen sulfide metabolic process  
Pathways : KEGGSulfur metabolism   
NDEx NetworkETHE1
Atlas of Cancer Signalling NetworkETHE1
Wikipedia pathwaysETHE1
Orthology - Evolution
OrthoDB23474
GeneTree (enSembl)ENSG00000105755
Phylogenetic Trees/Animal Genes : TreeFamETHE1
HOVERGENO95571
HOGENOMO95571
Homologs : HomoloGeneETHE1
Homology/Alignments : Family Browser (UCSC)ETHE1
Gene fusions - Rearrangements
Fusion: TCGASIPA1L3 ETHE1
Fusion: TCGAQPCTL ETHE1
Fusion: TCGAZNF791 ETHE1
Fusion: TCGAETHE1 CADM4
Fusion: TCGAETHE1 UPK3A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETHE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETHE1
dbVarETHE1
ClinVarETHE1
1000_GenomesETHE1 
Exome Variant ServerETHE1
ExAC (Exome Aggregation Consortium)ETHE1 (select the gene name)
Genetic variants : HAPMAP23474
Genomic Variants (DGV)ETHE1 [DGVbeta]
DECIPHER (Syndromes)19:44010871-44031396  ENSG00000105755
CONAN: Copy Number AnalysisETHE1 
Mutations
ICGC Data PortalETHE1 
TCGA Data PortalETHE1 
Broad Tumor PortalETHE1
OASIS PortalETHE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICETHE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDETHE1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ETHE1
DgiDB (Drug Gene Interaction Database)ETHE1
DoCM (Curated mutations)ETHE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ETHE1 (select a term)
intoGenETHE1
Cancer3DETHE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602473    608451   
Orphanet10672   
MedgenETHE1
Genetic Testing Registry ETHE1
NextProtO95571 [Medical]
TSGene23474
GENETestsETHE1
Huge Navigator ETHE1 [HugePedia]
snp3D : Map Gene to Disease23474
BioCentury BCIQETHE1
ClinGenETHE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23474
Chemical/Pharm GKB GenePA134879650
Clinical trialETHE1
Miscellaneous
canSAR (ICR)ETHE1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineETHE1
EVEXETHE1
GoPubMedETHE1
iHOPETHE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:03:12 CET 2017

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