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 (NCBI)C10orf34
C2360
MRP-S37
HGNC (Hugo) CHCHD1
HGNC Alias symbFLJ25854
HGNC Previous nameC10orf34
HGNC Previous namechromosome 10 open reading frame 34
LocusID (NCBI) 118487
Atlas_Id 61789
Location 10q22.2  [Link to chromosome band 10q22]
Location_base_pair Starts at 73782048 and ends at 73783652 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)CHCHD1   23518
Cards
Entrez_Gene (NCBI)CHCHD1    coiled-coil-helix-coiled-coil-helix domain containing 1
AliasesC10orf34; C2360; MRP-S37
GeneCards (Weizmann)CHCHD1
Ensembl hg19 (Hinxton)ENSG00000172586 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172586 [Gene_View]  ENSG00000172586 [Sequence]  chr10:73782048-73783652 [Contig_View]  CHCHD1 [Vega]
ICGC DataPortalENSG00000172586
TCGA cBioPortalCHCHD1
AceView (NCBI)CHCHD1
Genatlas (Paris)CHCHD1
SOURCE (Princeton)CHCHD1
Genetics Home Reference (NIH)CHCHD1
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD1  -     chr10:73782048-73783652 +  10q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD1  -     10q22.2   [Description]    (hg19-Feb_2009)
GoldenPathCHCHD1 - 10q22.2 [CytoView hg19]  CHCHD1 - 10q22.2 [CytoView hg38]
ImmunoBaseENSG00000172586
Genome Data Viewer NCBICHCHD1 [Mapview hg19]  
OMIM608842   
Gene and transcription
Genbank (Entrez)AK098720 BC015387 BC020852 BM787401
RefSeq transcript (Entrez)NM_203298
Consensus coding sequences : CCDS (NCBI)CHCHD1
Gene ExpressionCHCHD1 [ NCBI-GEO ]   CHCHD1 [ EBI - ARRAY_EXPRESS ]   CHCHD1 [ SEEK ]   CHCHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD1 [ Firebrowse - Broad ]
GenevisibleExpression of CHCHD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)118487
GTEX Portal (Tissue expression)CHCHD1
Human Protein AtlasENSG00000172586-CHCHD1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ96BP2
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)CHCH    CHCHD1    Cys_alpha_HP_mot_SF   
Domain families : Pfam (Sanger)CHCH (PF06747)   
Domain families : Pfam (NCBI)pfam06747   
Conserved Domain (NCBI)CHCHD1
PDB (RSDB)3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
PDB Europe3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
PDB (PDBSum)3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
PDB (IMB)3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
Structural Biology KnowledgeBase3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
SCOP (Structural Classification of Proteins)3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
CATH (Classification of proteins structures)3J9M    6NU2    6NU3    6RW4    6RW5    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
SuperfamilyQ96BP2
AlphaFold pdb e-kbQ96BP2   
Human Protein Atlas [tissue]ENSG00000172586-CHCHD1 [tissue]
HPRD12313
Protein Interaction databases
DIP (DOE-UCLA)Q96BP2
IntAct (EBI)Q96BP2
BioGRIDCHCHD1
STRING (EMBL)CHCHD1
ZODIACCHCHD1
Ontologies - Pathways
QuickGOQ96BP2
Ontology : AmiGOfibrillar center  RNA binding  protein binding  nucleoplasm  nucleoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial ribosome  cytosol  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIfibrillar center  RNA binding  protein binding  nucleoplasm  nucleoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial ribosome  cytosol  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
Homologs : HomoloGeneCHCHD1
Homology/Alignments : Family Browser (UCSC)CHCHD1
Gene fusions - Rearrangements
Fusion : QuiverCHCHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD1
dbVarCHCHD1
ClinVarCHCHD1
MonarchCHCHD1
1000_GenomesCHCHD1 
Exome Variant ServerCHCHD1
GNOMAD BrowserENSG00000172586
Varsome BrowserCHCHD1
ACMGCHCHD1 variants
VarityQ96BP2
Genomic Variants (DGV)CHCHD1 [DGVbeta]
DECIPHERCHCHD1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCHCHD1
Mutations and Diseases : HGMDCHCHD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCHCHD1
DgiDB (Drug Gene Interaction Database)CHCHD1
DoCM (Curated mutations)CHCHD1
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD1
Cancer3DCHCHD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608842   
Orphanet
DisGeNETCHCHD1
MedgenCHCHD1
Genetic Testing Registry CHCHD1
NextProtQ96BP2 [Medical]
GENETestsCHCHD1
Target ValidationCHCHD1
Huge Navigator CHCHD1 [HugePedia]
ClinGenCHCHD1
Clinical trials, drugs, therapy
MyCancerGenomeCHCHD1
Protein Interactions : CTDCHCHD1
Pharm GKB GenePA134964437
PharosQ96BP2
Clinical trialCHCHD1
Miscellaneous
canSAR (ICR)CHCHD1
HarmonizomeCHCHD1
DataMed IndexCHCHD1
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHCHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:46:01 CEST 2021

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