Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Alias_symbol (synonym)MGC2217
COX23
Other alias
HGNC (Hugo) CHCHD7
LocusID (NCBI) 79145
Atlas_Id 44028
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 57124197 and ends at 57131357 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Head and Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) CHCHD7/PLAG1
Head and Neck: Salivary gland tumors: an overview


External links

Nomenclature
HGNC (Hugo)CHCHD7   28314
Cards
Entrez_Gene (NCBI)CHCHD7  79145  coiled-coil-helix-coiled-coil-helix domain containing 7
AliasesCOX23
GeneCards (Weizmann)CHCHD7
Ensembl hg19 (Hinxton)ENSG00000170791 [Gene_View]  chr8:57124197-57131357 [Contig_View]  CHCHD7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000170791 [Gene_View]  chr8:57124197-57131357 [Contig_View]  CHCHD7 [Vega]
ICGC DataPortalENSG00000170791
TCGA cBioPortalCHCHD7
AceView (NCBI)CHCHD7
Genatlas (Paris)CHCHD7
WikiGenes79145
SOURCE (Princeton)CHCHD7
Genetics Home Reference (NIH)CHCHD7
Genomic and cartography
GoldenPath hg19 (UCSC)CHCHD7  -     chr8:57124197-57131357 +  8q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHCHD7  -     8q12.1   [Description]    (hg38-Dec_2013)
EnsemblCHCHD7 - 8q12.1 [CytoView hg19]  CHCHD7 - 8q12.1 [CytoView hg38]
Mapping of homologs : NCBICHCHD7 [Mapview hg19]  CHCHD7 [Mapview hg38]
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
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)CHCHD7
Cluster EST : UnigeneHs.436913 [ NCBI ]
CGAP (NCI)Hs.436913
Alternative Splicing GalleryENSG00000170791
Gene ExpressionCHCHD7 [ NCBI-GEO ]   CHCHD7 [ EBI - ARRAY_EXPRESS ]   CHCHD7 [ SEEK ]   CHCHD7 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79145
GTEX Portal (Tissue expression)CHCHD7
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
Splice isoforms : SwissVarQ9BUK0
PhosPhoSitePlusQ9BUK0
Domains : Interpro (EBI)Cys_alpha_HP_mot_SF   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CHCHD7
DMDM Disease mutations79145
Blocks (Seattle)CHCHD7
PDB (SRS)2LQT   
PDB (PDBSum)2LQT   
PDB (IMB)2LQT   
PDB (RSDB)2LQT   
Structural Biology KnowledgeBase2LQT   
SCOP (Structural Classification of Proteins)2LQT   
CATH (Classification of proteins structures)2LQT   
SuperfamilyQ9BUK0
Human Protein AtlasENSG00000170791
Peptide AtlasQ9BUK0
HPRD13048
IPIIPI00013279   IPI00604730   IPI00385204   IPI00552935   IPI00552793   IPI00984340   IPI00983046   IPI00975653   IPI00553078   IPI00977465   
Protein Interaction databases
DIP (DOE-UCLA)Q9BUK0
IntAct (EBI)Q9BUK0
FunCoupENSG00000170791
BioGRIDCHCHD7
STRING (EMBL)CHCHD7
ZODIACCHCHD7
Ontologies - Pathways
QuickGOQ9BUK0
Ontology : AmiGOmitochondrial intermembrane space  
Ontology : EGO-EBImitochondrial intermembrane space  
NDEx NetworkCHCHD7
Atlas of Cancer Signalling NetworkCHCHD7
Wikipedia pathwaysCHCHD7
Orthology - Evolution
OrthoDB79145
GeneTree (enSembl)ENSG00000170791
Phylogenetic Trees/Animal Genes : TreeFamCHCHD7
HOVERGENQ9BUK0
HOGENOMQ9BUK0
Homologs : HomoloGeneCHCHD7
Homology/Alignments : Family Browser (UCSC)CHCHD7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD7
dbVarCHCHD7
ClinVarCHCHD7
1000_GenomesCHCHD7 
Exome Variant ServerCHCHD7
ExAC (Exome Aggregation Consortium)CHCHD7 (select the gene name)
Genetic variants : HAPMAP79145
Genomic Variants (DGV)CHCHD7 [DGVbeta]
DECIPHER (Syndromes)8:57124197-57131357  ENSG00000170791
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]  
Mutations and Diseases : HGMDCHCHD7
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 CHCHD7
DgiDB (Drug Gene Interaction Database)CHCHD7
DoCM (Curated mutations)CHCHD7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD7 (select a term)
intoGenCHCHD7
Cancer3DCHCHD7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611238   
Orphanet
MedgenCHCHD7
Genetic Testing Registry CHCHD7
NextProtQ9BUK0 [Medical]
TSGene79145
GENETestsCHCHD7
Huge Navigator CHCHD7 [HugePedia]
snp3D : Map Gene to Disease79145
BioCentury BCIQCHCHD7
ClinGenCHCHD7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79145
Chemical/Pharm GKB GenePA134883538
Clinical trialCHCHD7
Miscellaneous
canSAR (ICR)CHCHD7 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD7
EVEXCHCHD7
GoPubMedCHCHD7
iHOPCHCHD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:00:17 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.