Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ERLEC1 (endoplasmic reticulum lectin 1)

Identity

Alias_namesC2orf30
chromosome 2 open reading frame 30
Alias_symbol (synonym)CL25084
XTP3TPB
XTP3-B
ERLECTIN
Other aliasCIM
CL24936
HEL117
HGNC (Hugo) ERLEC1
LocusID (NCBI) 27248
Atlas_Id 62894
Location 2p16.2  [Link to chromosome band 2p16]
Location_base_pair Starts at 53786931 and ends at 53818819 bp from pter ( according to hg38-Dec_2013)

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)ERLEC1   25222
Cards
Entrez_Gene (NCBI)ERLEC1  27248  endoplasmic reticulum lectin 1
AliasesC2orf30; CIM; CL24936; CL25084; 
HEL117; XTP3-B; XTP3TPB
GeneCards (Weizmann)ERLEC1
Ensembl hg19 (Hinxton)ENSG00000068912 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000068912 [Gene_View]  chr2:53786931-53818819 [Contig_View]  ERLEC1 [Vega]
ICGC DataPortalENSG00000068912
TCGA cBioPortalERLEC1
AceView (NCBI)ERLEC1
Genatlas (Paris)ERLEC1
WikiGenes27248
SOURCE (Princeton)ERLEC1
Genetics Home Reference (NIH)ERLEC1
Genomic and cartography
GoldenPath hg38 (UCSC)ERLEC1  -     chr2:53786931-53818819 +  2p16.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERLEC1  -     2p16.2   [Description]    (hg19-Feb_2009)
EnsemblERLEC1 - 2p16.2 [CytoView hg19]  ERLEC1 - 2p16.2 [CytoView hg38]
Mapping of homologs : NCBIERLEC1 [Mapview hg19]  ERLEC1 [Mapview hg38]
OMIM611229   
Gene and transcription
Genbank (Entrez)AA687108 AF131743 AF131849 AK001913 AK315477
RefSeq transcript (Entrez)NM_001127397 NM_001127398 NM_015701
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERLEC1
Cluster EST : UnigeneHs.713845 [ NCBI ]
CGAP (NCI)Hs.713845
Alternative Splicing GalleryENSG00000068912
Gene ExpressionERLEC1 [ NCBI-GEO ]   ERLEC1 [ EBI - ARRAY_EXPRESS ]   ERLEC1 [ SEEK ]   ERLEC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERLEC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27248
GTEX Portal (Tissue expression)ERLEC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DZ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DZ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DZ1
Splice isoforms : SwissVarQ96DZ1
PhosPhoSitePlusQ96DZ1
Domains : Interpro (EBI)Man6P_isomerase_rcpt-bd_dom    PRKCSH   
Domain families : Pfam (Sanger)PRKCSH (PF07915)   
Domain families : Pfam (NCBI)pfam07915   
Conserved Domain (NCBI)ERLEC1
DMDM Disease mutations27248
Blocks (Seattle)ERLEC1
SuperfamilyQ96DZ1
Human Protein AtlasENSG00000068912
Peptide AtlasQ96DZ1
HPRD10310
IPIIPI00748151   IPI00432337   IPI00894202   
Protein Interaction databases
DIP (DOE-UCLA)Q96DZ1
IntAct (EBI)Q96DZ1
FunCoupENSG00000068912
BioGRIDERLEC1
STRING (EMBL)ERLEC1
ZODIACERLEC1
Ontologies - Pathways
QuickGOQ96DZ1
Ontology : AmiGOglycoprotein binding  protein binding  endoplasmic reticulum lumen  ubiquitin-dependent ERAD pathway  ERAD pathway  endoplasmic reticulum quality control compartment  unfolded protein binding  transmembrane transport  negative regulation of retrograde protein transport, ER to cytosol  
Ontology : EGO-EBIglycoprotein binding  protein binding  endoplasmic reticulum lumen  ubiquitin-dependent ERAD pathway  ERAD pathway  endoplasmic reticulum quality control compartment  unfolded protein binding  transmembrane transport  negative regulation of retrograde protein transport, ER to cytosol  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkERLEC1
Atlas of Cancer Signalling NetworkERLEC1
Wikipedia pathwaysERLEC1
Orthology - Evolution
OrthoDB27248
GeneTree (enSembl)ENSG00000068912
Phylogenetic Trees/Animal Genes : TreeFamERLEC1
HOVERGENQ96DZ1
HOGENOMQ96DZ1
Homologs : HomoloGeneERLEC1
Homology/Alignments : Family Browser (UCSC)ERLEC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERLEC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERLEC1
dbVarERLEC1
ClinVarERLEC1
1000_GenomesERLEC1 
Exome Variant ServerERLEC1
ExAC (Exome Aggregation Consortium)ERLEC1 (select the gene name)
Genetic variants : HAPMAP27248
Genomic Variants (DGV)ERLEC1 [DGVbeta]
DECIPHERERLEC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERLEC1 
Mutations
ICGC Data PortalERLEC1 
TCGA Data PortalERLEC1 
Broad Tumor PortalERLEC1
OASIS PortalERLEC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERLEC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERLEC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ERLEC1
DgiDB (Drug Gene Interaction Database)ERLEC1
DoCM (Curated mutations)ERLEC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERLEC1 (select a term)
intoGenERLEC1
Cancer3DERLEC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611229   
Orphanet
MedgenERLEC1
Genetic Testing Registry ERLEC1
NextProtQ96DZ1 [Medical]
TSGene27248
GENETestsERLEC1
Target ValidationERLEC1
Huge Navigator ERLEC1 [HugePedia]
snp3D : Map Gene to Disease27248
BioCentury BCIQERLEC1
ClinGenERLEC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27248
Chemical/Pharm GKB GenePA165696636
Clinical trialERLEC1
Miscellaneous
canSAR (ICR)ERLEC1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERLEC1
EVEXERLEC1
GoPubMedERLEC1
iHOPERLEC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:47:21 CEST 2017

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