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CHCHD5 (coiled-coil-helix-coiled-coil-helix domain containing 5)

Identity

Other aliasC2orf9
CHTM1
MIC14
MIX14
HGNC (Hugo) CHCHD5
LocusID (NCBI) 84269
Atlas_Id 57898
Location 2q14.1  [Link to chromosome band 2q14]
Location_base_pair Starts at 112584437 and ends at 112589040 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)CHCHD5   17840
Cards
Entrez_Gene (NCBI)CHCHD5  84269  coiled-coil-helix-coiled-coil-helix domain containing 5
AliasesC2orf9; CHTM1; MIC14; MIX14
GeneCards (Weizmann)CHCHD5
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr2:112584437-112589040 [Contig_View]  CHCHD5 [Vega]
TCGA cBioPortalCHCHD5
AceView (NCBI)CHCHD5
Genatlas (Paris)CHCHD5
WikiGenes84269
SOURCE (Princeton)CHCHD5
Genetics Home Reference (NIH)CHCHD5
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD5  -     chr2:112584437-112589040 +  2q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD5  -     2q14.1   [Description]    (hg19-Feb_2009)
GoldenPathCHCHD5 - 2q14.1 [CytoView hg19]  CHCHD5 - 2q14.1 [CytoView hg38]
Mapping of homologs : NCBICHCHD5 [Mapview hg19]  CHCHD5 [Mapview hg38]
OMIM616978   
Gene and transcription
Genbank (Entrez)AK096990 AK312219 BC004498 BM563093 BX115079
RefSeq transcript (Entrez)NM_001304353 NM_001304354 NM_001371322 NM_001371323 NM_032309
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHCHD5
Cluster EST : UnigeneHs.375707 [ NCBI ]
CGAP (NCI)Hs.375707
Gene ExpressionCHCHD5 [ NCBI-GEO ]   CHCHD5 [ EBI - ARRAY_EXPRESS ]   CHCHD5 [ SEEK ]   CHCHD5 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84269
GTEX Portal (Tissue expression)CHCHD5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSY4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSY4
Splice isoforms : SwissVarQ9BSY4
PhosPhoSitePlusQ9BSY4
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)CHCH    CX9C   
Domain families : Pfam (Sanger)CHCH (PF06747)    CX9C (PF16860)   
Domain families : Pfam (NCBI)pfam06747    pfam16860   
Conserved Domain (NCBI)CHCHD5
DMDM Disease mutations84269
Blocks (Seattle)CHCHD5
PDB (RSDB)2LQL   
PDB Europe2LQL   
PDB (PDBSum)2LQL   
PDB (IMB)2LQL   
Structural Biology KnowledgeBase2LQL   
SCOP (Structural Classification of Proteins)2LQL   
CATH (Classification of proteins structures)2LQL   
SuperfamilyQ9BSY4
Peptide AtlasQ9BSY4
IPIIPI00395372   IPI00916966   IPI00305552   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSY4
IntAct (EBI)Q9BSY4
BioGRIDCHCHD5
STRING (EMBL)CHCHD5
ZODIACCHCHD5
Ontologies - Pathways
QuickGOQ9BSY4
Ontology : AmiGOmitochondrial intermembrane space  
Ontology : EGO-EBImitochondrial intermembrane space  
NDEx NetworkCHCHD5
Atlas of Cancer Signalling NetworkCHCHD5
Wikipedia pathwaysCHCHD5
Orthology - Evolution
OrthoDB84269
Phylogenetic Trees/Animal Genes : TreeFamCHCHD5
HOGENOMQ9BSY4
Homologs : HomoloGeneCHCHD5
Homology/Alignments : Family Browser (UCSC)CHCHD5
Gene fusions - Rearrangements
Fusion : QuiverCHCHD5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD5
dbVarCHCHD5
ClinVarCHCHD5
1000_GenomesCHCHD5 
Exome Variant ServerCHCHD5
Varsome BrowserCHCHD5
Genetic variants : HAPMAP84269
Genomic Variants (DGV)CHCHD5 [DGVbeta]
DECIPHERCHCHD5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHCHD5 
Mutations
ICGC Data PortalCHCHD5 
TCGA Data PortalCHCHD5 
Broad Tumor PortalCHCHD5
OASIS PortalCHCHD5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHCHD5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCHCHD5
Mutations and Diseases : HGMDCHCHD5
BioMutasearch CHCHD5
DgiDB (Drug Gene Interaction Database)CHCHD5
DoCM (Curated mutations)CHCHD5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD5 (select a term)
intoGenCHCHD5
Cancer3DCHCHD5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616978   
Orphanet
DisGeNETCHCHD5
MedgenCHCHD5
Genetic Testing Registry CHCHD5
NextProtQ9BSY4 [Medical]
TSGene84269
GENETestsCHCHD5
Target ValidationCHCHD5
Huge Navigator CHCHD5 [HugePedia]
snp3D : Map Gene to Disease84269
BioCentury BCIQCHCHD5
ClinGenCHCHD5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84269
Chemical/Pharm GKB GenePA25896
Clinical trialCHCHD5
Miscellaneous
canSAR (ICR)CHCHD5 (select the gene name)
DataMed IndexCHCHD5
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD5
EVEXCHCHD5
GoPubMedCHCHD5
iHOPCHCHD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 12 15:28:43 CEST 2019

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