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MCCD1 (mitochondrial coiled-coil domain 1)

Identity

Alias (NCBI)-
HGNC (Hugo) MCCD1
LocusID (NCBI) 401250
Atlas_Id 68841
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31528962 and ends at 31530231 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)

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)MCCD1   20668
Cards
Entrez_Gene (NCBI)MCCD1  401250  mitochondrial coiled-coil domain 1
Aliases
GeneCards (Weizmann)MCCD1
Ensembl hg19 (Hinxton)ENSG00000204511 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204511 [Gene_View]  ENSG00000204511 [Sequence]  chr6:31528962-31530231 [Contig_View]  MCCD1 [Vega]
ICGC DataPortalENSG00000204511
TCGA cBioPortalMCCD1
AceView (NCBI)MCCD1
Genatlas (Paris)MCCD1
WikiGenes401250
SOURCE (Princeton)MCCD1
Genetics Home Reference (NIH)MCCD1
Genomic and cartography
GoldenPath hg38 (UCSC)MCCD1  -     chr6:31528962-31530231 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCCD1  -     6p21.33   [Description]    (hg19-Feb_2009)
GoldenPathMCCD1 - 6p21.33 [CytoView hg19]  MCCD1 - 6p21.33 [CytoView hg38]
ImmunoBaseENSG00000204511
genome Data Viewer NCBIMCCD1 [Mapview hg19]  
OMIM609624   
Gene and transcription
Genbank (Entrez)BC132994 BC132996 BN000141
RefSeq transcript (Entrez)NM_001011700
RefSeq genomic (Entrez)NC_000006 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)MCCD1
Alternative Splicing GalleryENSG00000204511
Gene ExpressionMCCD1 [ NCBI-GEO ]   MCCD1 [ EBI - ARRAY_EXPRESS ]   MCCD1 [ SEEK ]   MCCD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MCCD1 [ Firebrowse - Broad ]
GenevisibleExpression of MCCD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)401250
GTEX Portal (Tissue expression)MCCD1
Human Protein AtlasENSG00000204511-MCCD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59942   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59942  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59942
Splice isoforms : SwissVarP59942
PhosPhoSitePlusP59942
Domains : Interpro (EBI)MCCD1   
Domain families : Pfam (Sanger)MCCD1 (PF15707)   
Domain families : Pfam (NCBI)pfam15707   
Conserved Domain (NCBI)MCCD1
DMDM Disease mutations401250
Blocks (Seattle)MCCD1
SuperfamilyP59942
Human Protein Atlas [tissue]ENSG00000204511-MCCD1 [tissue]
Peptide AtlasP59942
HPRD17470
IPIIPI00386634   IPI01008826   
Protein Interaction databases
DIP (DOE-UCLA)P59942
IntAct (EBI)P59942
FunCoupENSG00000204511
BioGRIDMCCD1
STRING (EMBL)MCCD1
ZODIACMCCD1
Ontologies - Pathways
QuickGOP59942
Ontology : AmiGOmitochondrion  
Ontology : EGO-EBImitochondrion  
NDEx NetworkMCCD1
Atlas of Cancer Signalling NetworkMCCD1
Wikipedia pathwaysMCCD1
Orthology - Evolution
OrthoDB401250
GeneTree (enSembl)ENSG00000204511
Phylogenetic Trees/Animal Genes : TreeFamMCCD1
HOGENOMP59942
Homologs : HomoloGeneMCCD1
Homology/Alignments : Family Browser (UCSC)MCCD1
Gene fusions - Rearrangements
Fusion : QuiverMCCD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCCD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCCD1
dbVarMCCD1
ClinVarMCCD1
1000_GenomesMCCD1 
Exome Variant ServerMCCD1
GNOMAD BrowserENSG00000204511
Varsome BrowserMCCD1
Genetic variants : HAPMAP401250
Genomic Variants (DGV)MCCD1 [DGVbeta]
DECIPHERMCCD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCCD1 
Mutations
ICGC Data PortalMCCD1 
TCGA Data PortalMCCD1 
Broad Tumor PortalMCCD1
OASIS PortalMCCD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCCD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMCCD1
Mutations and Diseases : HGMDMCCD1
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 MCCD1
DgiDB (Drug Gene Interaction Database)MCCD1
DoCM (Curated mutations)MCCD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCCD1 (select a term)
intoGenMCCD1
Cancer3DMCCD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609624   
Orphanet
DisGeNETMCCD1
MedgenMCCD1
Genetic Testing Registry MCCD1
NextProtP59942 [Medical]
TSGene401250
GENETestsMCCD1
Target ValidationMCCD1
Huge Navigator MCCD1 [HugePedia]
snp3D : Map Gene to Disease401250
BioCentury BCIQMCCD1
ClinGenMCCD1
Clinical trials, drugs, therapy
Protein Interactions : CTD401250
Pharm GKB GenePA134913652
Clinical trialMCCD1
Miscellaneous
canSAR (ICR)MCCD1 (select the gene name)
HarmonizomeMCCD1
DataMed IndexMCCD1
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCCD1
EVEXMCCD1
GoPubMedMCCD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Aug 22 19:24:31 CEST 2020

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