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ORMDL1 (ORMDL sphingolipid biosynthesis regulator 1)

Identity

Alias_namesORM1 (S. cerevisiae)-like 1
ORM1-like 1 (S. cerevisiae)
Other alias-
HGNC (Hugo) ORMDL1
LocusID (NCBI) 94101
Atlas_Id 71547
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 189770267 and ends at 189784371 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)
CSH2 (17q23.3) / ORMDL1 (2q32.2)GAS5 (1q25.1) / ORMDL1 (2q32.2)

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

 


External links

Nomenclature
HGNC (Hugo)ORMDL1   16036
Cards
Entrez_Gene (NCBI)ORMDL1  94101  ORMDL sphingolipid biosynthesis regulator 1
Aliases
GeneCards (Weizmann)ORMDL1
Ensembl hg19 (Hinxton)ENSG00000128699 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128699 [Gene_View]  chr2:189770267-189784371 [Contig_View]  ORMDL1 [Vega]
ICGC DataPortalENSG00000128699
TCGA cBioPortalORMDL1
AceView (NCBI)ORMDL1
Genatlas (Paris)ORMDL1
WikiGenes94101
SOURCE (Princeton)ORMDL1
Genetics Home Reference (NIH)ORMDL1
Genomic and cartography
GoldenPath hg38 (UCSC)ORMDL1  -     chr2:189770267-189784371 -  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ORMDL1  -     2q32.2   [Description]    (hg19-Feb_2009)
EnsemblORMDL1 - 2q32.2 [CytoView hg19]  ORMDL1 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIORMDL1 [Mapview hg19]  ORMDL1 [Mapview hg38]
OMIM610073   
Gene and transcription
Genbank (Entrez)AA603217 AB064959 AB064960 AF151036 AF395704
RefSeq transcript (Entrez)NM_001128150 NM_016467
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ORMDL1
Cluster EST : UnigeneHs.700632 [ NCBI ]
CGAP (NCI)Hs.700632
Alternative Splicing GalleryENSG00000128699
Gene ExpressionORMDL1 [ NCBI-GEO ]   ORMDL1 [ EBI - ARRAY_EXPRESS ]   ORMDL1 [ SEEK ]   ORMDL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ORMDL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94101
GTEX Portal (Tissue expression)ORMDL1
Human Protein AtlasENSG00000128699-ORMDL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0S3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0S3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0S3
Splice isoforms : SwissVarQ9P0S3
PhosPhoSitePlusQ9P0S3
Domains : Interpro (EBI)ORMDL    ORML1   
Domain families : Pfam (Sanger)ORMDL (PF04061)   
Domain families : Pfam (NCBI)pfam04061   
Conserved Domain (NCBI)ORMDL1
DMDM Disease mutations94101
Blocks (Seattle)ORMDL1
SuperfamilyQ9P0S3
Human Protein Atlas [tissue]ENSG00000128699-ORMDL1 [tissue]
Peptide AtlasQ9P0S3
HPRD15092
IPIIPI00009364   IPI00917448   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0S3
IntAct (EBI)Q9P0S3
FunCoupENSG00000128699
BioGRIDORMDL1
STRING (EMBL)ORMDL1
ZODIACORMDL1
Ontologies - Pathways
QuickGOQ9P0S3
Ontology : AmiGOendoplasmic reticulum  endoplasmic reticulum membrane  ceramide metabolic process  integral component of membrane  SPOTS complex  cellular sphingolipid homeostasis  negative regulation of ceramide biosynthetic process  
Ontology : EGO-EBIendoplasmic reticulum  endoplasmic reticulum membrane  ceramide metabolic process  integral component of membrane  SPOTS complex  cellular sphingolipid homeostasis  negative regulation of ceramide biosynthetic process  
NDEx NetworkORMDL1
Atlas of Cancer Signalling NetworkORMDL1
Wikipedia pathwaysORMDL1
Orthology - Evolution
OrthoDB94101
GeneTree (enSembl)ENSG00000128699
Phylogenetic Trees/Animal Genes : TreeFamORMDL1
HOVERGENQ9P0S3
HOGENOMQ9P0S3
Homologs : HomoloGeneORMDL1
Homology/Alignments : Family Browser (UCSC)ORMDL1
Gene fusions - Rearrangements
Tumor Fusion PortalORMDL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerORMDL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ORMDL1
dbVarORMDL1
ClinVarORMDL1
1000_GenomesORMDL1 
Exome Variant ServerORMDL1
ExAC (Exome Aggregation Consortium)ENSG00000128699
GNOMAD BrowserENSG00000128699
Genetic variants : HAPMAP94101
Genomic Variants (DGV)ORMDL1 [DGVbeta]
DECIPHERORMDL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisORMDL1 
Mutations
ICGC Data PortalORMDL1 
TCGA Data PortalORMDL1 
Broad Tumor PortalORMDL1
OASIS PortalORMDL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICORMDL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDORMDL1
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 ORMDL1
DgiDB (Drug Gene Interaction Database)ORMDL1
DoCM (Curated mutations)ORMDL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ORMDL1 (select a term)
intoGenORMDL1
Cancer3DORMDL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610073   
Orphanet
DisGeNETORMDL1
MedgenORMDL1
Genetic Testing Registry ORMDL1
NextProtQ9P0S3 [Medical]
TSGene94101
GENETestsORMDL1
Target ValidationORMDL1
Huge Navigator ORMDL1 [HugePedia]
snp3D : Map Gene to Disease94101
BioCentury BCIQORMDL1
ClinGenORMDL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD94101
Chemical/Pharm GKB GenePA32819
Clinical trialORMDL1
Miscellaneous
canSAR (ICR)ORMDL1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineORMDL1
EVEXORMDL1
GoPubMedORMDL1
iHOPORMDL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:05:57 CET 2017

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