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DCLRE1C (DNA cross-link repair 1C)

Identity

Alias_namesSCIDA
severe combined immunodeficiency, type a (Athabascan)
DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
Alias_symbol (synonym)ARTEMIS
FLJ11360
SNM1C
A-SCID
Other aliasDCLREC1C
RS-SCID
HGNC (Hugo) DCLRE1C
LocusID (NCBI) 64421
Atlas_Id 40273
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 14904611 and ends at 14954432 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		DCLRE1C (10p13) / DCLRE1C (10p13)DNAJC1 (10p12.31) / DCLRE1C (10p13)NSMCE2 (8q24.13) / DCLRE1C (10p13)
DNAJC1 10p12.31 / DCLRE1C 10p13NSMCE2 8q24.13 / DCLRE1C 10p13

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)DCLRE1C   17642
LRG (Locus Reference Genomic)LRG_54
Cards
Entrez_Gene (NCBI)DCLRE1C  64421  DNA cross-link repair 1C
AliasesA-SCID; DCLREC1C; RS-SCID; SCIDA; 
SNM1C
GeneCards (Weizmann)DCLRE1C
Ensembl hg19 (Hinxton)ENSG00000152457 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152457 [Gene_View]  chr10:14904611-14954432 [Contig_View]  DCLRE1C [Vega]
ICGC DataPortalENSG00000152457
TCGA cBioPortalDCLRE1C
AceView (NCBI)DCLRE1C
Genatlas (Paris)DCLRE1C
WikiGenes64421
SOURCE (Princeton)DCLRE1C
Genetics Home Reference (NIH)DCLRE1C
Genomic and cartography
GoldenPath hg38 (UCSC)DCLRE1C  -     chr10:14904611-14954432 -  10p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DCLRE1C  -     10p13   [Description]    (hg19-Feb_2009)
EnsemblDCLRE1C - 10p13 [CytoView hg19]  DCLRE1C - 10p13 [CytoView hg38]
Mapping of homologs : NCBIDCLRE1C [Mapview hg19]  DCLRE1C [Mapview hg38]
OMIM602450   603554   605988   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001033855 NM_001033857 NM_001033858 NM_001289076 NM_001289077 NM_001289078 NM_001289079 NM_001350965 NM_001350966 NM_001350967 NM_022487
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DCLRE1C
Cluster EST : UnigeneHs.737284 [ NCBI ]
CGAP (NCI)Hs.737284
Alternative Splicing GalleryENSG00000152457
Gene ExpressionDCLRE1C [ NCBI-GEO ]   DCLRE1C [ EBI - ARRAY_EXPRESS ]   DCLRE1C [ SEEK ]   DCLRE1C [ MEM ]
Gene Expression Viewer (FireBrowse)DCLRE1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64421
GTEX Portal (Tissue expression)DCLRE1C
Protein : pattern, domain, 3D structure
UniProt/SwissProt   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96SD1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96SD1
Splice isoforms : SwissVarQ96SD1
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
PhosPhoSitePlusQ96SD1
Domains : Interpro (EBI)DRMBL    Metallo-B-lactamas   
Domain families : Pfam (Sanger)DRMBL (PF07522)    Lactamase_B_2 (PF12706)   
Domain families : Pfam (NCBI)pfam07522    pfam12706   
Conserved Domain (NCBI)DCLRE1C
DMDM Disease mutations64421
Blocks (Seattle)DCLRE1C
PDB (SRS)3W1B    3W1G    4HTP   
PDB (PDBSum)3W1B    3W1G    4HTP   
PDB (IMB)3W1B    3W1G    4HTP   
PDB (RSDB)3W1B    3W1G    4HTP   
Structural Biology KnowledgeBase3W1B    3W1G    4HTP   
SCOP (Structural Classification of Proteins)3W1B    3W1G    4HTP   
CATH (Classification of proteins structures)3W1B    3W1G    4HTP   
SuperfamilyQ96SD1
Human Protein AtlasENSG00000152457
Peptide AtlasQ96SD1
HPRD05817
IPIIPI00290459   IPI00607742   IPI00396624   IPI00290918   IPI00647422   IPI00645024   IPI00645424   IPI00646355   
Protein Interaction databases
DIP (DOE-UCLA)Q96SD1
IntAct (EBI)Q96SD1
FunCoupENSG00000152457
BioGRIDDCLRE1C
STRING (EMBL)DCLRE1C
ZODIACDCLRE1C
Ontologies - Pathways
QuickGOQ96SD1
Ontology : AmiGOsingle-stranded DNA endodeoxyribonuclease activity  nuclear chromosome, telomeric region  adaptive immune response  damaged DNA binding  endonuclease activity  protein binding  nucleoplasm  nucleoplasm  Golgi apparatus  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  5'-3' exonuclease activity  response to ionizing radiation  B cell differentiation  protection from non-homologous end joining at telomere  V(D)J recombination  5'-3' exodeoxyribonuclease activity  interstrand cross-link repair  nonhomologous end joining complex  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIsingle-stranded DNA endodeoxyribonuclease activity  nuclear chromosome, telomeric region  adaptive immune response  damaged DNA binding  endonuclease activity  protein binding  nucleoplasm  nucleoplasm  Golgi apparatus  double-strand break repair via nonhomologous end joining  double-strand break repair via nonhomologous end joining  5'-3' exonuclease activity  response to ionizing radiation  B cell differentiation  protection from non-homologous end joining at telomere  V(D)J recombination  5'-3' exodeoxyribonuclease activity  interstrand cross-link repair  nonhomologous end joining complex  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGNon-homologous end-joining    Primary immunodeficiency   
NDEx NetworkDCLRE1C
Atlas of Cancer Signalling NetworkDCLRE1C
Wikipedia pathwaysDCLRE1C
Orthology - Evolution
OrthoDB64421
GeneTree (enSembl)ENSG00000152457
Phylogenetic Trees/Animal Genes : TreeFamDCLRE1C
HOVERGENQ96SD1
HOGENOMQ96SD1
Homologs : HomoloGeneDCLRE1C
Homology/Alignments : Family Browser (UCSC)DCLRE1C
Gene fusions - Rearrangements
Fusion : MitelmanDNAJC1/DCLRE1C [10p12.31/10p13]  [t(10;10)(p12;p13)]  
Fusion : MitelmanNSMCE2/DCLRE1C [8q24.13/10p13]  [t(8;10)(q24;p13)]  
Fusion: TCGADNAJC1 10p12.31 DCLRE1C 10p13 BRCA
Fusion: TCGANSMCE2 8q24.13 DCLRE1C 10p13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDCLRE1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DCLRE1C
dbVarDCLRE1C
ClinVarDCLRE1C
1000_GenomesDCLRE1C 
Exome Variant ServerDCLRE1C
ExAC (Exome Aggregation Consortium)DCLRE1C (select the gene name)
Genetic variants : HAPMAP64421
Genomic Variants (DGV)DCLRE1C [DGVbeta]
DECIPHERDCLRE1C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDCLRE1C 
Mutations
ICGC Data PortalDCLRE1C 
TCGA Data PortalDCLRE1C 
Broad Tumor PortalDCLRE1C
OASIS PortalDCLRE1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDCLRE1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDCLRE1C
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch DCLRE1C
DgiDB (Drug Gene Interaction Database)DCLRE1C
DoCM (Curated mutations)DCLRE1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DCLRE1C (select a term)
intoGenDCLRE1C
Cancer3DDCLRE1C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602450    603554    605988   
Orphanet993    10452   
MedgenDCLRE1C
Genetic Testing Registry DCLRE1C
NextProtQ96SD1 [Medical]
TSGene64421
GENETestsDCLRE1C
Target ValidationDCLRE1C
Huge Navigator DCLRE1C [HugePedia]
snp3D : Map Gene to Disease64421
BioCentury BCIQDCLRE1C
ClinGenDCLRE1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64421
Chemical/Pharm GKB GenePA27176
Clinical trialDCLRE1C
Miscellaneous
canSAR (ICR)DCLRE1C (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDCLRE1C
EVEXDCLRE1C
GoPubMedDCLRE1C
iHOPDCLRE1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:04:52 CEST 2017
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