Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7)

Identity

Alias (NCBI)COX23
HGNC (Hugo) CHCHD7
HGNC Alias symbMGC2217
COX23
HGNC Alias nameCOX23 cytochrome c oxidase assembly homolog (S. cerevisiae)
LocusID (NCBI) 79145
Atlas_Id 44028
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 56211638 and ends at 56218798 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)
BCOR (Xp11.4)::CHCHD7 (8q12.1)CHCHD7 (8q12.1)::PLAG1 (8q12.1)PLAG1 (8q12.1)::CHCHD7 (8q12.1)
CHCHD7 8q12.1::PLAG1 8q12.1

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)CHCHD7   28314
Cards
Entrez_Gene (NCBI)CHCHD7    coiled-coil-helix-coiled-coil-helix domain containing 7
AliasesCOX23
GeneCards (Weizmann)CHCHD7
Ensembl hg19 (Hinxton)ENSG00000170791 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170791 [Gene_View]  ENSG00000170791 [Sequence]  chr8:56211638-56218798 [Contig_View]  CHCHD7 [Vega]
ICGC DataPortalENSG00000170791
TCGA cBioPortalCHCHD7
AceView (NCBI)CHCHD7
Genatlas (Paris)CHCHD7
SOURCE (Princeton)CHCHD7
Genetics Home Reference (NIH)CHCHD7
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD7  -     chr8:56211638-56218798 +  8q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD7  -     8q12.1   [Description]    (hg19-Feb_2009)
GoldenPathCHCHD7 - 8q12.1 [CytoView hg19]  CHCHD7 - 8q12.1 [CytoView hg38]
ImmunoBaseENSG00000170791
Genome Data Viewer NCBICHCHD7 [Mapview hg19]  
OMIM611238   
Gene and transcription
Genbank (Entrez)AK095922 AK098285 AK225982 AK290088 AY070434
RefSeq transcript (Entrez)NM_001011667 NM_001011668 NM_001011669 NM_001011670 NM_001011671 NM_001317858 NM_001317859 NM_024300
Consensus coding sequences : CCDS (NCBI)CHCHD7
Gene ExpressionCHCHD7 [ NCBI-GEO ]   CHCHD7 [ EBI - ARRAY_EXPRESS ]   CHCHD7 [ SEEK ]   CHCHD7 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD7 [ Firebrowse - Broad ]
GenevisibleExpression of CHCHD7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79145
GTEX Portal (Tissue expression)CHCHD7
Human Protein AtlasENSG00000170791-CHCHD7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUK0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BUK0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUK0
PhosPhoSitePlusQ9BUK0
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)Cys_alpha_HP_mot_SF   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CHCHD7
PDB (RSDB)2LQT   
PDB Europe2LQT   
PDB (PDBSum)2LQT   
PDB (IMB)2LQT   
Structural Biology KnowledgeBase2LQT   
SCOP (Structural Classification of Proteins)2LQT   
CATH (Classification of proteins structures)2LQT   
SuperfamilyQ9BUK0
AlphaFold pdb e-kbQ9BUK0   
Human Protein Atlas [tissue]ENSG00000170791-CHCHD7 [tissue]
HPRD13048
Protein Interaction databases
DIP (DOE-UCLA)Q9BUK0
IntAct (EBI)Q9BUK0
BioGRIDCHCHD7
STRING (EMBL)CHCHD7
ZODIACCHCHD7
Ontologies - Pathways
QuickGOQ9BUK0
Ontology : AmiGOmolecular_function  cellular_component  mitochondrial intermembrane space  biological_process  
Ontology : EGO-EBImolecular_function  cellular_component  mitochondrial intermembrane space  biological_process  
NDEx NetworkCHCHD7
Atlas of Cancer Signalling NetworkCHCHD7
Wikipedia pathwaysCHCHD7
Orthology - Evolution
OrthoDB79145
GeneTree (enSembl)ENSG00000170791
Phylogenetic Trees/Animal Genes : TreeFamCHCHD7
Homologs : HomoloGeneCHCHD7
Homology/Alignments : Family Browser (UCSC)CHCHD7
Gene fusions - Rearrangements
Fusion : QuiverCHCHD7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD7
dbVarCHCHD7
ClinVarCHCHD7
MonarchCHCHD7
1000_GenomesCHCHD7 
Exome Variant ServerCHCHD7
GNOMAD BrowserENSG00000170791
Varsome BrowserCHCHD7
ACMGCHCHD7 variants
VarityQ9BUK0
Genomic Variants (DGV)CHCHD7 [DGVbeta]
DECIPHERCHCHD7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHCHD7 
Mutations
ICGC Data PortalCHCHD7 
TCGA Data PortalCHCHD7 
Broad Tumor PortalCHCHD7
OASIS PortalCHCHD7 [ Somatic mutations - Copy number]
Cancer Gene: CensusCHCHD7 
Somatic Mutations in Cancer : COSMICCHCHD7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCHCHD7
Mutations and Diseases : HGMDCHCHD7
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCHCHD7
DgiDB (Drug Gene Interaction Database)CHCHD7
DoCM (Curated mutations)CHCHD7
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD7
Cancer3DCHCHD7
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611238   
Orphanet
DisGeNETCHCHD7
MedgenCHCHD7
Genetic Testing Registry CHCHD7
NextProtQ9BUK0 [Medical]
GENETestsCHCHD7
Target ValidationCHCHD7
Huge Navigator CHCHD7 [HugePedia]
ClinGenCHCHD7
Clinical trials, drugs, therapy
MyCancerGenomeCHCHD7
Protein Interactions : CTDCHCHD7
Pharm GKB GenePA134883538
PharosQ9BUK0
Clinical trialCHCHD7
Miscellaneous
canSAR (ICR)CHCHD7
HarmonizomeCHCHD7
ARCHS4CHCHD7
DataMed IndexCHCHD7
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHCHD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:27:22 CET 2022

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