Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KRT18 (keratin 18)

Identity

Alias (NCBI)CK-18
CYK18
K18
HGNC (Hugo) KRT18
HGNC Previous namekeratin 18, type I
LocusID (NCBI) 3875
Atlas_Id 41104
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 52948871 and ends at 52952901 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)
EHMT2 (6p21.33) / KRT18 (12q13.13)KRT18 (12q13.13) / PLEC (8q24.3)SND1 (7q32.1) / KRT18 (12q13.13)

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: Thymus: Thymoma: an overview
t(8;12)(q24;q13) KRT18/PLEC

External links

Nomenclature
HGNC (Hugo)KRT18   6430
Cards
Entrez_Gene (NCBI)KRT18  3875  keratin 18
AliasesCK-18; CYK18; K18
GeneCards (Weizmann)KRT18
Ensembl hg19 (Hinxton)ENSG00000111057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111057 [Gene_View]  ENSG00000111057 [Sequence]  chr12:52948871-52952901 [Contig_View]  KRT18 [Vega]
ICGC DataPortalENSG00000111057
TCGA cBioPortalKRT18
AceView (NCBI)KRT18
Genatlas (Paris)KRT18
WikiGenes3875
SOURCE (Princeton)KRT18
Genetics Home Reference (NIH)KRT18
Genomic and cartography
GoldenPath hg38 (UCSC)KRT18  -     chr12:52948871-52952901 +  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KRT18  -     12q13.13   [Description]    (hg19-Feb_2009)
GoldenPathKRT18 - 12q13.13 [CytoView hg19]  KRT18 - 12q13.13 [CytoView hg38]
ImmunoBaseENSG00000111057
genome Data Viewer NCBIKRT18 [Mapview hg19]  
OMIM118900   148070   215600   
Gene and transcription
Genbank (Entrez)AK129587 AK223093 AK308506 AK313988 AY762101
RefSeq transcript (Entrez)NM_000224 NM_199187
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KRT18
Alternative Splicing GalleryENSG00000111057
Gene ExpressionKRT18 [ NCBI-GEO ]   KRT18 [ EBI - ARRAY_EXPRESS ]   KRT18 [ SEEK ]   KRT18 [ MEM ]
Gene Expression Viewer (FireBrowse)KRT18 [ Firebrowse - Broad ]
GenevisibleExpression of KRT18 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3875
GTEX Portal (Tissue expression)KRT18
Human Protein AtlasENSG00000111057-KRT18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05783   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05783  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05783
Splice isoforms : SwissVarP05783
PhosPhoSitePlusP05783
Domaine pattern : Prosite (Expaxy)IF_ROD_1 (PS00226)    IF_ROD_2 (PS51842)   
Domains : Interpro (EBI)IF_conserved    IF_rod_dom    IF_rod_dom_coil1B    Keratin-18    Keratin_I   
Domain families : Pfam (Sanger)Filament (PF00038)   
Domain families : Pfam (NCBI)pfam00038   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)KRT18
DMDM Disease mutations3875
Blocks (Seattle)KRT18
SuperfamilyP05783
Human Protein Atlas [tissue]ENSG00000111057-KRT18 [tissue]
Peptide AtlasP05783
HPRD01020
IPIIPI00554788   IPI00816245   IPI01022070   
Protein Interaction databases
DIP (DOE-UCLA)P05783
IntAct (EBI)P05783
FunCoupENSG00000111057
BioGRIDKRT18
STRING (EMBL)KRT18
ZODIACKRT18
Ontologies - Pathways
QuickGOP05783
Ontology : AmiGORNA binding  structural molecule activity  protein binding  nucleolus  cytoplasm  microtubule organizing center  cytosol  cytosol  intermediate filament  adherens junction  cell cycle  anatomical structure morphogenesis  viral process  keratinization  tumor necrosis factor-mediated signaling pathway  centriolar satellite  Golgi to plasma membrane CFTR protein transport  negative regulation of apoptotic process  keratin filament  intermediate filament cytoskeleton organization  perinuclear region of cytoplasm  extracellular exosome  cornification  cell periphery  scaffold protein binding  extrinsic apoptotic signaling pathway  hepatocyte apoptotic process  cadherin binding involved in cell-cell adhesion  
Ontology : EGO-EBIRNA binding  structural molecule activity  protein binding  nucleolus  cytoplasm  microtubule organizing center  cytosol  cytosol  intermediate filament  adherens junction  cell cycle  anatomical structure morphogenesis  viral process  keratinization  tumor necrosis factor-mediated signaling pathway  centriolar satellite  Golgi to plasma membrane CFTR protein transport  negative regulation of apoptotic process  keratin filament  intermediate filament cytoskeleton organization  perinuclear region of cytoplasm  extracellular exosome  cornification  cell periphery  scaffold protein binding  extrinsic apoptotic signaling pathway  hepatocyte apoptotic process  cadherin binding involved in cell-cell adhesion  
Pathways : KEGGPathogenic Escherichia coli infection   
NDEx NetworkKRT18
Atlas of Cancer Signalling NetworkKRT18
Wikipedia pathwaysKRT18
Orthology - Evolution
OrthoDB3875
GeneTree (enSembl)ENSG00000111057
Phylogenetic Trees/Animal Genes : TreeFamKRT18
HOGENOMP05783
Homologs : HomoloGeneKRT18
Homology/Alignments : Family Browser (UCSC)KRT18
Gene fusions - Rearrangements
Fusion : MitelmanKRT18/PLEC [12q13.13/8q24.3]  
Fusion : QuiverKRT18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKRT18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KRT18
dbVarKRT18
ClinVarKRT18
1000_GenomesKRT18 
Exome Variant ServerKRT18
GNOMAD BrowserENSG00000111057
Varsome BrowserKRT18
Genetic variants : HAPMAP3875
Genomic Variants (DGV)KRT18 [DGVbeta]
DECIPHERKRT18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKRT18 
Mutations
ICGC Data PortalKRT18 
TCGA Data PortalKRT18 
Broad Tumor PortalKRT18
OASIS PortalKRT18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKRT18  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKRT18
Mutations and Diseases : HGMDKRT18
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 KRT18
DgiDB (Drug Gene Interaction Database)KRT18
DoCM (Curated mutations)KRT18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KRT18 (select a term)
intoGenKRT18
Cancer3DKRT18(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118900    148070    215600   
Orphanet
DisGeNETKRT18
MedgenKRT18
Genetic Testing Registry KRT18
NextProtP05783 [Medical]
TSGene3875
GENETestsKRT18
Target ValidationKRT18
Huge Navigator KRT18 [HugePedia]
snp3D : Map Gene to Disease3875
BioCentury BCIQKRT18
ClinGenKRT18
Clinical trials, drugs, therapy
Protein Interactions : CTD3875
Pharm GKB GenePA30217
Clinical trialKRT18
Miscellaneous
canSAR (ICR)KRT18 (select the gene name)
HarmonizomeKRT18
DataMed IndexKRT18
Probes
Litterature
PubMed315 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKRT18
EVEXKRT18
GoPubMedKRT18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:19:40 CEST 2020
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