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MKS1 (Meckel syndrome, type 1)

Identity

Alias_namesMKS
Alias_symbol (synonym)FLJ20345
POC12
BBS13
Other aliasMES
HGNC (Hugo) MKS1
LocusID (NCBI) 54903
Atlas_Id 70334
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 56282797 and ends at 56296966 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MKS1 (17q22) / KSR1 (17q11.1)MKS1 (17q22) / SPAG9 (17q21.33)MKS1 SPAG9
MKS1 KSR1

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)MKS1   7121
LRG (Locus Reference Genomic)LRG_687
Cards
Entrez_Gene (NCBI)MKS1  54903  Meckel syndrome, type 1
AliasesBBS13; MES; MKS; POC12
GeneCards (Weizmann)MKS1
Ensembl hg19 (Hinxton)ENSG00000011143 [Gene_View]  chr17:56282797-56296966 [Contig_View]  MKS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000011143 [Gene_View]  chr17:56282797-56296966 [Contig_View]  MKS1 [Vega]
ICGC DataPortalENSG00000011143
TCGA cBioPortalMKS1
AceView (NCBI)MKS1
Genatlas (Paris)MKS1
WikiGenes54903
SOURCE (Princeton)MKS1
Genetics Home Reference (NIH)MKS1
Genomic and cartography
GoldenPath hg19 (UCSC)MKS1  -     chr17:56282797-56296966 -  17q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MKS1  -     17q22   [Description]    (hg38-Dec_2013)
EnsemblMKS1 - 17q22 [CytoView hg19]  MKS1 - 17q22 [CytoView hg38]
Mapping of homologs : NCBIMKS1 [Mapview hg19]  MKS1 [Mapview hg38]
OMIM249000   609883   615990   
Gene and transcription
Genbank (Entrez)AI208274 AK000352 AK301020 AK310815 BC010061
RefSeq transcript (Entrez)NM_001165927 NM_017777
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_013032 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)MKS1
Cluster EST : UnigeneHs.408843 [ NCBI ]
CGAP (NCI)Hs.408843
Alternative Splicing GalleryENSG00000011143
Gene ExpressionMKS1 [ NCBI-GEO ]   MKS1 [ EBI - ARRAY_EXPRESS ]   MKS1 [ SEEK ]   MKS1 [ MEM ]
Gene Expression Viewer (FireBrowse)MKS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54903
GTEX Portal (Tissue expression)MKS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NXB0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NXB0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NXB0
Splice isoforms : SwissVarQ9NXB0
PhosPhoSitePlusQ9NXB0
Domaine pattern : Prosite (Expaxy)B9 (PS51381)   
Domains : Interpro (EBI)B9_dom   
Domain families : Pfam (Sanger)B9-C2 (PF07162)   
Domain families : Pfam (NCBI)pfam07162   
Conserved Domain (NCBI)MKS1
DMDM Disease mutations54903
Blocks (Seattle)MKS1
SuperfamilyQ9NXB0
Human Protein AtlasENSG00000011143
Peptide AtlasQ9NXB0
HPRD07900
IPIIPI00015720   IPI00186410   IPI01014865   IPI00794034   IPI00795632   
Protein Interaction databases
DIP (DOE-UCLA)Q9NXB0
IntAct (EBI)Q9NXB0
FunCoupENSG00000011143
BioGRIDMKS1
STRING (EMBL)MKS1
ZODIACMKS1
Ontologies - Pathways
QuickGOQ9NXB0
Ontology : AmiGOprotein binding  cytoplasm  centrosome  centriole  cytosol  organelle organization  membrane  TCTN-B9D complex  ciliary basal body  cilium assembly  branching morphogenesis of an epithelial tube  cilium morphogenesis  
Ontology : EGO-EBIprotein binding  cytoplasm  centrosome  centriole  cytosol  organelle organization  membrane  TCTN-B9D complex  ciliary basal body  cilium assembly  branching morphogenesis of an epithelial tube  cilium morphogenesis  
NDEx NetworkMKS1
Atlas of Cancer Signalling NetworkMKS1
Wikipedia pathwaysMKS1
Orthology - Evolution
OrthoDB54903
GeneTree (enSembl)ENSG00000011143
Phylogenetic Trees/Animal Genes : TreeFamMKS1
HOVERGENQ9NXB0
HOGENOMQ9NXB0
Homologs : HomoloGeneMKS1
Homology/Alignments : Family Browser (UCSC)MKS1
Gene fusions - Rearrangements
Fusion: TCGAMKS1 SPAG9
Fusion: TCGAMKS1 KSR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMKS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MKS1
dbVarMKS1
ClinVarMKS1
1000_GenomesMKS1 
Exome Variant ServerMKS1
ExAC (Exome Aggregation Consortium)MKS1 (select the gene name)
Genetic variants : HAPMAP54903
Genomic Variants (DGV)MKS1 [DGVbeta]
DECIPHER (Syndromes)17:56282797-56296966  ENSG00000011143
CONAN: Copy Number AnalysisMKS1 
Mutations
ICGC Data PortalMKS1 
TCGA Data PortalMKS1 
Broad Tumor PortalMKS1
OASIS PortalMKS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMKS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMKS1
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)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch MKS1
DgiDB (Drug Gene Interaction Database)MKS1
DoCM (Curated mutations)MKS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MKS1 (select a term)
intoGenMKS1
Cancer3DMKS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM249000    609883    615990   
Orphanet280    1022    3244    18916   
MedgenMKS1
Genetic Testing Registry MKS1
NextProtQ9NXB0 [Medical]
TSGene54903
GENETestsMKS1
Huge Navigator MKS1 [HugePedia]
snp3D : Map Gene to Disease54903
BioCentury BCIQMKS1
ClinGenMKS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54903
Chemical/Pharm GKB GenePA30840
Clinical trialMKS1
Miscellaneous
canSAR (ICR)MKS1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMKS1
EVEXMKS1
GoPubMedMKS1
iHOPMKS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:33:19 CET 2017

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