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CHTF18 (chromosome transmission fidelity factor 18)

Identity

Alias (NCBI)C16orf41
C321D2.2
C321D2.3
C321D2.4
CHL12
Ctf18
RUVBL
HGNC (Hugo) CHTF18
HGNC Alias symbCHL12
C321D2.4
Ctf18
HGNC Previous nameC16orf41
HGNC Previous namechromosome 16 open reading frame 41
 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
LocusID (NCBI) 63922
Atlas_Id 46708
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 788620 and ends at 798074 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)
TSC2 (16p13.3)::CHTF18 (16p13.3)

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)CHTF18   18435
Cards
Entrez_Gene (NCBI)CHTF18    chromosome transmission fidelity factor 18
AliasesC16orf41; C321D2.2; C321D2.3; C321D2.4; 
CHL12; Ctf18; RUVBL
GeneCards (Weizmann)CHTF18
Ensembl hg19 (Hinxton)ENSG00000127586 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127586 [Gene_View]  ENSG00000127586 [Sequence]  chr16:788620-798074 [Contig_View]  CHTF18 [Vega]
ICGC DataPortalENSG00000127586
TCGA cBioPortalCHTF18
AceView (NCBI)CHTF18
Genatlas (Paris)CHTF18
SOURCE (Princeton)CHTF18
Genetics Home Reference (NIH)CHTF18
Genomic and cartography
GoldenPath hg38 (UCSC)CHTF18  -     chr16:788620-798074 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHTF18  -     16p13.3   [Description]    (hg19-Feb_2009)
GoldenPathCHTF18 - 16p13.3 [CytoView hg19]  CHTF18 - 16p13.3 [CytoView hg38]
ImmunoBaseENSG00000127586
Genome Data Viewer NCBICHTF18 [Mapview hg19]  
OMIM613201   
Gene and transcription
Genbank (Entrez)AI650845 AK024476 AK128869 AK293846 AK309804
RefSeq transcript (Entrez)NM_022092
Consensus coding sequences : CCDS (NCBI)CHTF18
Gene ExpressionCHTF18 [ NCBI-GEO ]   CHTF18 [ EBI - ARRAY_EXPRESS ]   CHTF18 [ SEEK ]   CHTF18 [ MEM ]
Gene Expression Viewer (FireBrowse)CHTF18 [ Firebrowse - Broad ]
GenevisibleExpression of CHTF18 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)63922
GTEX Portal (Tissue expression)CHTF18
Human Protein AtlasENSG00000127586-CHTF18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WVB6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WVB6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WVB6
PhosPhoSitePlusQ8WVB6
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)   
Domain families : Pfam (NCBI)pfam00004   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)CHTF18
SuperfamilyQ8WVB6
AlphaFold pdb e-kbQ8WVB6   
Human Protein Atlas [tissue]ENSG00000127586-CHTF18 [tissue]
HPRD13059
Protein Interaction databases
DIP (DOE-UCLA)Q8WVB6
IntAct (EBI)Q8WVB6
BioGRIDCHTF18
STRING (EMBL)CHTF18
ZODIACCHTF18
Ontologies - Pathways
QuickGOQ8WVB6
Ontology : AmiGODNA binding  DNA clamp loader activity  DNA clamp loader activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytosol  membrane  single-stranded DNA helicase activity  single-stranded DNA helicase activity  Ctf18 RFC-like complex  telomere maintenance via semi-conservative replication  DNA duplex unwinding  positive regulation of DNA-directed DNA polymerase activity  
Ontology : EGO-EBIDNA binding  DNA clamp loader activity  DNA clamp loader activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytosol  membrane  single-stranded DNA helicase activity  single-stranded DNA helicase activity  Ctf18 RFC-like complex  telomere maintenance via semi-conservative replication  DNA duplex unwinding  positive regulation of DNA-directed DNA polymerase activity  
NDEx NetworkCHTF18
Atlas of Cancer Signalling NetworkCHTF18
Wikipedia pathwaysCHTF18
Orthology - Evolution
OrthoDB63922
GeneTree (enSembl)ENSG00000127586
Phylogenetic Trees/Animal Genes : TreeFamCHTF18
Homologs : HomoloGeneCHTF18
Homology/Alignments : Family Browser (UCSC)CHTF18
Gene fusions - Rearrangements
Fusion : QuiverCHTF18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHTF18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHTF18
dbVarCHTF18
ClinVarCHTF18
MonarchCHTF18
1000_GenomesCHTF18 
Exome Variant ServerCHTF18
GNOMAD BrowserENSG00000127586
Varsome BrowserCHTF18
ACMGCHTF18 variants
VarityQ8WVB6
Genomic Variants (DGV)CHTF18 [DGVbeta]
DECIPHERCHTF18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHTF18 
Mutations
ICGC Data PortalCHTF18 
TCGA Data PortalCHTF18 
Broad Tumor PortalCHTF18
OASIS PortalCHTF18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHTF18  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCHTF18
Mutations and Diseases : HGMDCHTF18
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCHTF18
DgiDB (Drug Gene Interaction Database)CHTF18
DoCM (Curated mutations)CHTF18
CIViC (Clinical Interpretations of Variants in Cancer)CHTF18
Cancer3DCHTF18
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613201   
Orphanet
DisGeNETCHTF18
MedgenCHTF18
Genetic Testing Registry CHTF18
NextProtQ8WVB6 [Medical]
GENETestsCHTF18
Target ValidationCHTF18
Huge Navigator CHTF18 [HugePedia]
ClinGenCHTF18
Clinical trials, drugs, therapy
MyCancerGenomeCHTF18
Protein Interactions : CTDCHTF18
Pharm GKB GenePA134908713
PharosQ8WVB6
Clinical trialCHTF18
Miscellaneous
canSAR (ICR)CHTF18
HarmonizomeCHTF18
ARCHS4CHTF18
DataMed IndexCHTF18
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHTF18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:19:09 CET 2022

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