Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHCHD1 (coiled-coil-helix-coiled-coil-helix domain containing 1)

Identity

Alias_namesC10orf34
chromosome 10 open reading frame 34
Alias_symbol (synonym)FLJ25854
Other aliasC2360
MRP-S37
HGNC (Hugo) CHCHD1
LocusID (NCBI) 118487
Atlas_Id 61789
Location 10q22.2  [Link to chromosome band 10q22]
Location_base_pair Starts at 75541808 and ends at 75543406 bp from pter ( according to hg19-Feb_2009)

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)CHCHD1   23518
Cards
Entrez_Gene (NCBI)CHCHD1  118487  coiled-coil-helix-coiled-coil-helix domain containing 1
AliasesC10orf34; C2360; MRP-S37
GeneCards (Weizmann)CHCHD1
Ensembl hg19 (Hinxton)ENSG00000172586 [Gene_View]  chr10:75541808-75543406 [Contig_View]  CHCHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172586 [Gene_View]  chr10:75541808-75543406 [Contig_View]  CHCHD1 [Vega]
ICGC DataPortalENSG00000172586
TCGA cBioPortalCHCHD1
AceView (NCBI)CHCHD1
Genatlas (Paris)CHCHD1
WikiGenes118487
SOURCE (Princeton)CHCHD1
Genetics Home Reference (NIH)CHCHD1
Genomic and cartography
GoldenPath hg19 (UCSC)CHCHD1  -     chr10:75541808-75543406 +  10q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHCHD1  -     10q22.2   [Description]    (hg38-Dec_2013)
EnsemblCHCHD1 - 10q22.2 [CytoView hg19]  CHCHD1 - 10q22.2 [CytoView hg38]
Mapping of homologs : NCBICHCHD1 [Mapview hg19]  CHCHD1 [Mapview hg38]
OMIM608842   
Gene and transcription
Genbank (Entrez)AK098720 BC015387 BC020852 BM787401 EU832829
RefSeq transcript (Entrez)NM_203298
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)CHCHD1
Cluster EST : UnigeneHs.181174 [ NCBI ]
CGAP (NCI)Hs.181174
Alternative Splicing GalleryENSG00000172586
Gene ExpressionCHCHD1 [ NCBI-GEO ]   CHCHD1 [ EBI - ARRAY_EXPRESS ]   CHCHD1 [ SEEK ]   CHCHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)118487
GTEX Portal (Tissue expression)CHCHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BP2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BP2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BP2
Splice isoforms : SwissVarQ96BP2
PhosPhoSitePlusQ96BP2
Domains : Interpro (EBI)CHCH    Cys_alpha_HP_mot_SF   
Domain families : Pfam (Sanger)CHCH (PF06747)   
Domain families : Pfam (NCBI)pfam06747   
Conserved Domain (NCBI)CHCHD1
DMDM Disease mutations118487
Blocks (Seattle)CHCHD1
SuperfamilyQ96BP2
Human Protein AtlasENSG00000172586
Peptide AtlasQ96BP2
HPRD12313
IPIIPI00060107   IPI00646310   
Protein Interaction databases
DIP (DOE-UCLA)Q96BP2
IntAct (EBI)Q96BP2
FunCoupENSG00000172586
BioGRIDCHCHD1
STRING (EMBL)CHCHD1
ZODIACCHCHD1
Ontologies - Pathways
QuickGOQ96BP2
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  mitochondrion  mitochondrial inner membrane  organelle organization  mitochondrial translation  poly(A) RNA binding  mitochondrial translational initiation  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  mitochondrion  mitochondrial inner membrane  organelle organization  mitochondrial translation  poly(A) RNA binding  mitochondrial translational initiation  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkCHCHD1
Atlas of Cancer Signalling NetworkCHCHD1
Wikipedia pathwaysCHCHD1
Orthology - Evolution
OrthoDB118487
GeneTree (enSembl)ENSG00000172586
Phylogenetic Trees/Animal Genes : TreeFamCHCHD1
HOVERGENQ96BP2
HOGENOMQ96BP2
Homologs : HomoloGeneCHCHD1
Homology/Alignments : Family Browser (UCSC)CHCHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD1
dbVarCHCHD1
ClinVarCHCHD1
1000_GenomesCHCHD1 
Exome Variant ServerCHCHD1
ExAC (Exome Aggregation Consortium)CHCHD1 (select the gene name)
Genetic variants : HAPMAP118487
Genomic Variants (DGV)CHCHD1 [DGVbeta]
DECIPHER (Syndromes)10:75541808-75543406  ENSG00000172586
CONAN: Copy Number AnalysisCHCHD1 
Mutations
ICGC Data PortalCHCHD1 
TCGA Data PortalCHCHD1 
Broad Tumor PortalCHCHD1
OASIS PortalCHCHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHCHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHCHD1
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 CHCHD1
DgiDB (Drug Gene Interaction Database)CHCHD1
DoCM (Curated mutations)CHCHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD1 (select a term)
intoGenCHCHD1
Cancer3DCHCHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608842   
Orphanet
MedgenCHCHD1
Genetic Testing Registry CHCHD1
NextProtQ96BP2 [Medical]
TSGene118487
GENETestsCHCHD1
Huge Navigator CHCHD1 [HugePedia]
snp3D : Map Gene to Disease118487
BioCentury BCIQCHCHD1
ClinGenCHCHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD118487
Chemical/Pharm GKB GenePA134964437
Clinical trialCHCHD1
Miscellaneous
canSAR (ICR)CHCHD1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD1
EVEXCHCHD1
GoPubMedCHCHD1
iHOPCHCHD1
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 : Tue Mar 14 11:59:24 CET 2017

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