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CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

Identity

Alias_symbol (synonym)FLJ20420
MINOS3
PPP1R22
Mic19
Other alias
HGNC (Hugo) CHCHD3
LocusID (NCBI) 54927
Atlas_Id 54214
Location 7q32.3  [Link to chromosome band 7q32]
Location_base_pair Starts at 132784862 and ends at 133082158 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHCHD3 (7q32.3) / CHCHD3 (7q32.3)CHCHD3 (7q32.3) / CPEB3 (10q23.32)CHCHD3 (7q32.3) / EXOC4 (7q33)
CHCHD3 (7q32.3) / HUWE1 (Xp11.22)CHCHD3 (7q32.3) / MET (7q31.2)GTF2IP1 (7q11.23) / CHCHD3 (7q32.3)
HNRNPM (19p13.2) / CHCHD3 (7q32.3)LINC00337 (1p36.31) / CHCHD3 (7q32.3)MYH9 (22q12.3) / CHCHD3 (7q32.3)
NFIX (19p13.2) / CHCHD3 (7q32.3)PCSK2 (20p12.1) / CHCHD3 (7q32.3)POGZ (1q21.3) / CHCHD3 (7q32.3)
SMO (7q32.1) / CHCHD3 (7q32.3)TTC28 (22q12.1) / CHCHD3 (7q32.3)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)CHCHD3   21906
Cards
Entrez_Gene (NCBI)CHCHD3  54927  coiled-coil-helix-coiled-coil-helix domain containing 3
AliasesMINOS3; Mic19; PPP1R22
GeneCards (Weizmann)CHCHD3
Ensembl hg19 (Hinxton)ENSG00000106554 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106554 [Gene_View]  chr7:132784862-133082158 [Contig_View]  CHCHD3 [Vega]
ICGC DataPortalENSG00000106554
TCGA cBioPortalCHCHD3
AceView (NCBI)CHCHD3
Genatlas (Paris)CHCHD3
WikiGenes54927
SOURCE (Princeton)CHCHD3
Genetics Home Reference (NIH)CHCHD3
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD3  -     chr7:132784862-133082158 -  7q32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD3  -     7q32.3   [Description]    (hg19-Feb_2009)
EnsemblCHCHD3 - 7q32.3 [CytoView hg19]  CHCHD3 - 7q32.3 [CytoView hg38]
Mapping of homologs : NCBICHCHD3 [Mapview hg19]  CHCHD3 [Mapview hg38]
OMIM613748   
Gene and transcription
Genbank (Entrez)AK000427 AK129533 AK294071 AK310236 AL516679
RefSeq transcript (Entrez)NM_001317177 NM_001317178 NM_017812
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHCHD3
Cluster EST : UnigeneHs.655010 [ NCBI ]
CGAP (NCI)Hs.655010
Alternative Splicing GalleryENSG00000106554
Gene ExpressionCHCHD3 [ NCBI-GEO ]   CHCHD3 [ EBI - ARRAY_EXPRESS ]   CHCHD3 [ SEEK ]   CHCHD3 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54927
GTEX Portal (Tissue expression)CHCHD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NX63   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NX63  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NX63
Splice isoforms : SwissVarQ9NX63
PhosPhoSitePlusQ9NX63
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)DUF737   
Domain families : Pfam (Sanger)DUF737 (PF05300)   
Domain families : Pfam (NCBI)pfam05300   
Conserved Domain (NCBI)CHCHD3
DMDM Disease mutations54927
Blocks (Seattle)CHCHD3
SuperfamilyQ9NX63
Human Protein AtlasENSG00000106554
Peptide AtlasQ9NX63
HPRD13044
IPIIPI00015833   IPI00921826   IPI00926903   IPI00927150   IPI00927721   
Protein Interaction databases
DIP (DOE-UCLA)Q9NX63
IntAct (EBI)Q9NX63
FunCoupENSG00000106554
BioGRIDCHCHD3
STRING (EMBL)CHCHD3
ZODIACCHCHD3
Ontologies - Pathways
QuickGOQ9NX63
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  transcription, DNA-templated  inner mitochondrial membrane organization  mitochondrial fusion  phosphatase binding  protein complex scaffold  cristae formation  MICOS complex  extracellular exosome  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  transcription, DNA-templated  inner mitochondrial membrane organization  mitochondrial fusion  phosphatase binding  protein complex scaffold  cristae formation  MICOS complex  extracellular exosome  
NDEx NetworkCHCHD3
Atlas of Cancer Signalling NetworkCHCHD3
Wikipedia pathwaysCHCHD3
Orthology - Evolution
OrthoDB54927
GeneTree (enSembl)ENSG00000106554
Phylogenetic Trees/Animal Genes : TreeFamCHCHD3
HOVERGENQ9NX63
HOGENOMQ9NX63
Homologs : HomoloGeneCHCHD3
Homology/Alignments : Family Browser (UCSC)CHCHD3
Gene fusions - Rearrangements
Fusion : MitelmanCHCHD3/MET [7q32.3/7q31.2]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD3
dbVarCHCHD3
ClinVarCHCHD3
1000_GenomesCHCHD3 
Exome Variant ServerCHCHD3
ExAC (Exome Aggregation Consortium)CHCHD3 (select the gene name)
Genetic variants : HAPMAP54927
Genomic Variants (DGV)CHCHD3 [DGVbeta]
DECIPHERCHCHD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHCHD3 
Mutations
ICGC Data PortalCHCHD3 
TCGA Data PortalCHCHD3 
Broad Tumor PortalCHCHD3
OASIS PortalCHCHD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHCHD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHCHD3
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CHCHD3
DgiDB (Drug Gene Interaction Database)CHCHD3
DoCM (Curated mutations)CHCHD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD3 (select a term)
intoGenCHCHD3
Cancer3DCHCHD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613748   
Orphanet
MedgenCHCHD3
Genetic Testing Registry CHCHD3
NextProtQ9NX63 [Medical]
TSGene54927
GENETestsCHCHD3
Target ValidationCHCHD3
Huge Navigator CHCHD3 [HugePedia]
snp3D : Map Gene to Disease54927
BioCentury BCIQCHCHD3
ClinGenCHCHD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54927
Chemical/Pharm GKB GenePA134983108
Clinical trialCHCHD3
Miscellaneous
canSAR (ICR)CHCHD3 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD3
EVEXCHCHD3
GoPubMedCHCHD3
iHOPCHCHD3
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 : Wed Jun 7 12:28:12 CEST 2017

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