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CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)

Identity

Alias_namesC22orf16
chromosome 22 open reading frame 16
Alias_symbol (synonym)N27C7-4
Other aliasFTDALS2
IMMD
SMAJ
HGNC (Hugo) CHCHD10
LocusID (NCBI) 400916
Atlas_Id 61790
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 23765834 and ends at 23767972 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHCHD10 (22q11.23) / EIF4A3 (17q25.3)

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)CHCHD10   15559
Cards
Entrez_Gene (NCBI)CHCHD10  400916  coiled-coil-helix-coiled-coil-helix domain containing 10
AliasesC22orf16; FTDALS2; IMMD; N27C7-4; 
SMAJ
GeneCards (Weizmann)CHCHD10
Ensembl hg19 (Hinxton)ENSG00000250479 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000250479 [Gene_View]  chr22:23765834-23767972 [Contig_View]  CHCHD10 [Vega]
ICGC DataPortalENSG00000250479
TCGA cBioPortalCHCHD10
AceView (NCBI)CHCHD10
Genatlas (Paris)CHCHD10
WikiGenes400916
SOURCE (Princeton)CHCHD10
Genetics Home Reference (NIH)CHCHD10
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD10  -     chr22:23765834-23767972 -  22q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD10  -     22q11.23   [Description]    (hg19-Feb_2009)
EnsemblCHCHD10 - 22q11.23 [CytoView hg19]  CHCHD10 - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBICHCHD10 [Mapview hg19]  CHCHD10 [Mapview hg38]
OMIM615048   615903   615911   616209   
Gene and transcription
Genbank (Entrez)AI247342 AK289560 BC053570 BC065232 BM128374
RefSeq transcript (Entrez)NM_001301339 NM_213720
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_034223 NT_187633
Consensus coding sequences : CCDS (NCBI)CHCHD10
Cluster EST : UnigeneHs.66915 [ NCBI ]
CGAP (NCI)Hs.66915
Alternative Splicing GalleryENSG00000250479
Gene ExpressionCHCHD10 [ NCBI-GEO ]   CHCHD10 [ EBI - ARRAY_EXPRESS ]   CHCHD10 [ SEEK ]   CHCHD10 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD10 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)400916
GTEX Portal (Tissue expression)CHCHD10
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WYQ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WYQ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WYQ3
Splice isoforms : SwissVarQ8WYQ3
PhosPhoSitePlusQ8WYQ3
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)CHCH   
Domain families : Pfam (Sanger)CHCH (PF06747)   
Domain families : Pfam (NCBI)pfam06747   
Conserved Domain (NCBI)CHCHD10
DMDM Disease mutations400916
Blocks (Seattle)CHCHD10
SuperfamilyQ8WYQ3
Human Protein AtlasENSG00000250479
Peptide AtlasQ8WYQ3
HPRD12797
IPIIPI00103764   IPI00878610   IPI00974322   IPI00975954   IPI00973898   
Protein Interaction databases
DIP (DOE-UCLA)Q8WYQ3
IntAct (EBI)Q8WYQ3
FunCoupENSG00000250479
BioGRIDCHCHD10
STRING (EMBL)CHCHD10
ZODIACCHCHD10
Ontologies - Pathways
QuickGOQ8WYQ3
Ontology : AmiGOmolecular_function  nucleus  mitochondrion  mitochondrial intermembrane space  oxidative phosphorylation  ATP biosynthetic process  mitochondrion organization  negative regulation of ATP citrate synthase activity  
Ontology : EGO-EBImolecular_function  nucleus  mitochondrion  mitochondrial intermembrane space  oxidative phosphorylation  ATP biosynthetic process  mitochondrion organization  negative regulation of ATP citrate synthase activity  
NDEx NetworkCHCHD10
Atlas of Cancer Signalling NetworkCHCHD10
Wikipedia pathwaysCHCHD10
Orthology - Evolution
OrthoDB400916
GeneTree (enSembl)ENSG00000250479
Phylogenetic Trees/Animal Genes : TreeFamCHCHD10
HOVERGENQ8WYQ3
HOGENOMQ8WYQ3
Homologs : HomoloGeneCHCHD10
Homology/Alignments : Family Browser (UCSC)CHCHD10
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD10 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD10
dbVarCHCHD10
ClinVarCHCHD10
1000_GenomesCHCHD10 
Exome Variant ServerCHCHD10
ExAC (Exome Aggregation Consortium)CHCHD10 (select the gene name)
Genetic variants : HAPMAP400916
Genomic Variants (DGV)CHCHD10 [DGVbeta]
DECIPHERCHCHD10 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHCHD10 
Mutations
ICGC Data PortalCHCHD10 
TCGA Data PortalCHCHD10 
Broad Tumor PortalCHCHD10
OASIS PortalCHCHD10 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHCHD10  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHCHD10
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
BioMutasearch CHCHD10
DgiDB (Drug Gene Interaction Database)CHCHD10
DoCM (Curated mutations)CHCHD10 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD10 (select a term)
intoGenCHCHD10
Cancer3DCHCHD10(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615048    615903    615911    616209   
Orphanet106    20341    20381    23691   
MedgenCHCHD10
Genetic Testing Registry CHCHD10
NextProtQ8WYQ3 [Medical]
TSGene400916
GENETestsCHCHD10
Target ValidationCHCHD10
Huge Navigator CHCHD10 [HugePedia]
snp3D : Map Gene to Disease400916
BioCentury BCIQCHCHD10
ClinGenCHCHD10
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD400916
Chemical/Pharm GKB GenePA162382225
Clinical trialCHCHD10
Miscellaneous
canSAR (ICR)CHCHD10 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD10
EVEXCHCHD10
GoPubMedCHCHD10
iHOPCHCHD10
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:04:45 CEST 2017

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