Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CMC1 (C-X9-C motif containing 1)

Identity

Alias (NCBI)C3orf68
HGNC (Hugo) CMC1
HGNC Alias symbMGC61571
HGNC Previous nameC3orf68
HGNC Previous namechromosome 3 open reading frame 68
 COX assembly mitochondrial protein 1 homolog (S. cerevisiae)
 C-x(9)-C motif containing 1
LocusID (NCBI) 152100
Atlas_Id 54221
Location 3p24.1  [Link to chromosome band 3p24]
Location_base_pair Starts at 28241619 and ends at 28325127 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)
CMC1 (3p24.1) / AZI2 (3p24.1)CMC1 (3p24.1) / GLB1 (3p22.3)CMC1 (3p24.1) / MKLN1 (7q32.3)
CMC1 (3p24.1) / SLC4A7 (3p24.1)CMC1 (3p24.1) / VPS37C (11q12.2)EIF3H (8q23.3) / CMC1 (3p24.1)
CMC1 3p24.1 / GLB1 3p22.3CMC1 3p24.1 / VPS37C 11q12.2

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(3)(p24p24) CMC1/SLC4A7

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(3;3)(p22;p24) CMC1/GLB1
t(3;11)(p24;q12) CMC1/VPS37C

External links

Nomenclature
HGNC (Hugo)CMC1   28783
Cards
Entrez_Gene (NCBI)CMC1    C-X9-C motif containing 1
AliasesC3orf68
GeneCards (Weizmann)CMC1
Ensembl hg19 (Hinxton)ENSG00000187118 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187118 [Gene_View]  ENSG00000187118 [Sequence]  chr3:28241619-28325127 [Contig_View]  CMC1 [Vega]
ICGC DataPortalENSG00000187118
TCGA cBioPortalCMC1
AceView (NCBI)CMC1
Genatlas (Paris)CMC1
SOURCE (Princeton)CMC1
Genetics Home Reference (NIH)CMC1
Genomic and cartography
GoldenPath hg38 (UCSC)CMC1  -     chr3:28241619-28325127 +  3p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CMC1  -     3p24.1   [Description]    (hg19-Feb_2009)
GoldenPathCMC1 - 3p24.1 [CytoView hg19]  CMC1 - 3p24.1 [CytoView hg38]
ImmunoBaseENSG00000187118
genome Data Viewer NCBICMC1 [Mapview hg19]  
OMIM615166   
Gene and transcription
Genbank (Entrez)AF086095 BC052644 BX648671 CR749370
RefSeq transcript (Entrez)NM_001331185 NM_001331186 NM_001331187 NM_001331189 NM_001331190 NM_182523
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CMC1
Alternative Splicing GalleryENSG00000187118
Gene ExpressionCMC1 [ NCBI-GEO ]   CMC1 [ EBI - ARRAY_EXPRESS ]   CMC1 [ SEEK ]   CMC1 [ MEM ]
Gene Expression Viewer (FireBrowse)CMC1 [ Firebrowse - Broad ]
GenevisibleExpression of CMC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)152100
GTEX Portal (Tissue expression)CMC1
Human Protein AtlasENSG00000187118-CMC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z7K0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z7K0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z7K0
Splice isoforms : SwissVarQ7Z7K0
PhosPhoSitePlusQ7Z7K0
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)Cyt_c_biogenesis_Cmc1-like   
Domain families : Pfam (Sanger)Cmc1 (PF08583)   
Domain families : Pfam (NCBI)pfam08583   
Conserved Domain (NCBI)CMC1
Blocks (Seattle)CMC1
SuperfamilyQ7Z7K0
Human Protein Atlas [tissue]ENSG00000187118-CMC1 [tissue]
Peptide AtlasQ7Z7K0
HPRD14698
IPIIPI00376478   IPI00790595   IPI00927175   IPI00927432   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z7K0
IntAct (EBI)Q7Z7K0
BioGRIDCMC1
STRING (EMBL)CMC1
ZODIACCMC1
Ontologies - Pathways
QuickGOQ7Z7K0
Ontology : AmiGOmitochondrion  mitochondrion  metal ion binding  
Ontology : EGO-EBImitochondrion  mitochondrion  metal ion binding  
NDEx NetworkCMC1
Atlas of Cancer Signalling NetworkCMC1
Wikipedia pathwaysCMC1
Orthology - Evolution
OrthoDB152100
GeneTree (enSembl)ENSG00000187118
Phylogenetic Trees/Animal Genes : TreeFamCMC1
HOGENOMQ7Z7K0
Homologs : HomoloGeneCMC1
Homology/Alignments : Family Browser (UCSC)CMC1
Gene fusions - Rearrangements
Fusion : MitelmanCMC1/GLB1 [3p24.1/3p22.3]  
Fusion : MitelmanCMC1/SLC4A7 [3p24.1/3p24.1]  
Fusion : MitelmanCMC1/VPS37C [3p24.1/11q12.2]  
Fusion PortalCMC1 3p24.1 GLB1 3p22.3 LUAD
Fusion PortalCMC1 3p24.1 VPS37C 11q12.2 BRCA
Fusion : QuiverCMC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCMC1 [hg38]
dbVarCMC1
ClinVarCMC1
MonarchCMC1
1000_GenomesCMC1 
Exome Variant ServerCMC1
GNOMAD BrowserENSG00000187118
Varsome BrowserCMC1
Genomic Variants (DGV)CMC1 [DGVbeta]
DECIPHERCMC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCMC1 
Mutations
ICGC Data PortalCMC1 
TCGA Data PortalCMC1 
Broad Tumor PortalCMC1
OASIS PortalCMC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCMC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCMC1
Mutations and Diseases : HGMDCMC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CMC1
DgiDB (Drug Gene Interaction Database)CMC1
DoCM (Curated mutations)CMC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CMC1 (select a term)
intoGenCMC1
Cancer3DCMC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615166   
Orphanet
DisGeNETCMC1
MedgenCMC1
Genetic Testing Registry CMC1
NextProtQ7Z7K0 [Medical]
GENETestsCMC1
Target ValidationCMC1
Huge Navigator CMC1 [HugePedia]
ClinGenCMC1
Clinical trials, drugs, therapy
MyCancerGenomeCMC1
Protein Interactions : CTD
Pharm GKB GenePA162382538
PharosQ7Z7K0
Clinical trialCMC1
Miscellaneous
canSAR (ICR)CMC1 (select the gene name)
HarmonizomeCMC1
DataMed IndexCMC1
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCMC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:10:35 CET 2021
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