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MDC1 (mediator of DNA damage checkpoint 1)

Identity

Alias_namesmediator of DNA-damage checkpoint 1
Alias_symbol (synonym)NFBD1
KIAA0170
Em:AB023051.5
Other alias
HGNC (Hugo) MDC1
LocusID (NCBI) 9656
Atlas_Id 41326
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 30699807 and ends at 30717681 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
E2F7 (12q21.2) / MDC1 (6p21.33)MDC1 (6p21.33) / AHCYL1 (1p13.3)MDC1 (6p21.33) / H19 (11p15.5)
MDC1 (6p21.33) / MDC1 (6p21.33)MRPS25 (3p25.1) / MDC1 (6p21.33)NR1D2 (3p24.2) / MDC1 (6p21.33)

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)MDC1   21163
Cards
Entrez_Gene (NCBI)MDC1  9656  mediator of DNA damage checkpoint 1
AliasesNFBD1
GeneCards (Weizmann)MDC1
Ensembl hg19 (Hinxton)ENSG00000137337 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137337 [Gene_View]  chr6:30699807-30717681 [Contig_View]  MDC1 [Vega]
ICGC DataPortalENSG00000137337
TCGA cBioPortalMDC1
AceView (NCBI)MDC1
Genatlas (Paris)MDC1
WikiGenes9656
SOURCE (Princeton)MDC1
Genetics Home Reference (NIH)MDC1
Genomic and cartography
GoldenPath hg38 (UCSC)MDC1  -     chr6:30699807-30717681 -  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MDC1  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblMDC1 - 6p21.33 [CytoView hg19]  MDC1 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIMDC1 [Mapview hg19]  MDC1 [Mapview hg38]
OMIM607593   
Gene and transcription
Genbank (Entrez)AK298749 AK302434 BC110645 BC131491 BC152556
RefSeq transcript (Entrez)NM_014641
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)MDC1
Cluster EST : UnigeneHs.653495 [ NCBI ]
CGAP (NCI)Hs.653495
Alternative Splicing GalleryENSG00000137337
Gene ExpressionMDC1 [ NCBI-GEO ]   MDC1 [ EBI - ARRAY_EXPRESS ]   MDC1 [ SEEK ]   MDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)MDC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9656
GTEX Portal (Tissue expression)MDC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14676   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14676  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14676
Splice isoforms : SwissVarQ14676
PhosPhoSitePlusQ14676
Domaine pattern : Prosite (Expaxy)BRCT (PS50172)    FHA_DOMAIN (PS50006)   
Domains : Interpro (EBI)BRCT_dom    FHA_dom    SMAD_FHA_domain   
Domain families : Pfam (Sanger)FHA (PF00498)    RTT107_BRCT_5 (PF16770)   
Domain families : Pfam (NCBI)pfam00498    pfam16770   
Domain families : Smart (EMBL)FHA (SM00240)  
Conserved Domain (NCBI)MDC1
DMDM Disease mutations9656
Blocks (Seattle)MDC1
PDB (SRS)2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
PDB (PDBSum)2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
PDB (IMB)2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
PDB (RSDB)2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
Structural Biology KnowledgeBase2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
SCOP (Structural Classification of Proteins)2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
CATH (Classification of proteins structures)2ADO    2AZM    2ETX    3K05    3UEO    3UMZ    3UN0    3UNM    3UNN    3UOT   
SuperfamilyQ14676
Human Protein AtlasENSG00000137337
Peptide AtlasQ14676
HPRD16252
IPIIPI00552897   IPI00470805   IPI00895860   IPI00895842   IPI00792132   IPI00941028   IPI00828041   IPI00908887   IPI01021043   IPI01021180   IPI01022012   IPI01022821   IPI01022362   IPI00937211   IPI01022992   IPI00641106   IPI01018790   IPI00795103   IPI00791591   
Protein Interaction databases
DIP (DOE-UCLA)Q14676
IntAct (EBI)Q14676
FunCoupENSG00000137337
BioGRIDMDC1
STRING (EMBL)MDC1
ZODIACMDC1
Ontologies - Pathways
QuickGOQ14676
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  nucleoplasm  chromosome  focal adhesion  double-strand break repair via nonhomologous end joining  protein C-terminus binding  nuclear body  intra-S DNA damage checkpoint  FHA domain binding  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  nucleoplasm  chromosome  focal adhesion  double-strand break repair via nonhomologous end joining  protein C-terminus binding  nuclear body  intra-S DNA damage checkpoint  FHA domain binding  
NDEx NetworkMDC1
Atlas of Cancer Signalling NetworkMDC1
Wikipedia pathwaysMDC1
Orthology - Evolution
OrthoDB9656
GeneTree (enSembl)ENSG00000137337
Phylogenetic Trees/Animal Genes : TreeFamMDC1
HOVERGENQ14676
HOGENOMQ14676
Homologs : HomoloGeneMDC1
Homology/Alignments : Family Browser (UCSC)MDC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MDC1
dbVarMDC1
ClinVarMDC1
1000_GenomesMDC1 
Exome Variant ServerMDC1
ExAC (Exome Aggregation Consortium)MDC1 (select the gene name)
Genetic variants : HAPMAP9656
Genomic Variants (DGV)MDC1 [DGVbeta]
DECIPHERMDC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMDC1 
Mutations
ICGC Data PortalMDC1 
TCGA Data PortalMDC1 
Broad Tumor PortalMDC1
OASIS PortalMDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMDC1
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 MDC1
DgiDB (Drug Gene Interaction Database)MDC1
DoCM (Curated mutations)MDC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MDC1 (select a term)
intoGenMDC1
Cancer3DMDC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607593   
Orphanet
MedgenMDC1
Genetic Testing Registry MDC1
NextProtQ14676 [Medical]
TSGene9656
GENETestsMDC1
Target ValidationMDC1
Huge Navigator MDC1 [HugePedia]
snp3D : Map Gene to Disease9656
BioCentury BCIQMDC1
ClinGenMDC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9656
Chemical/Pharm GKB GenePA134942837
Clinical trialMDC1
Miscellaneous
canSAR (ICR)MDC1 (select the gene name)
Probes
Litterature
PubMed135 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMDC1
EVEXMDC1
GoPubMedMDC1
iHOPMDC1
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 12:42:36 CEST 2017

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