Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MKS1 (MKS transition zone complex subunit 1)

Identity

Alias (NCBI)BBS13
JBTS28
MES
MKS
POC12
HGNC (Hugo) MKS1
HGNC Alias symbFLJ20345
POC12
BBS13
HGNC Alias namePOC12 centriolar protein homolog (Chlamydomonas)
HGNC Previous nameMKS
HGNC Previous nameMeckel syndrome, type 1
LocusID (NCBI) 54903
Atlas_Id 57692
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 58205441 and ends at 58219255 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)
MKS1 (17q22) / KSR1 (17q11.1)MKS1 (17q22) / SPAG9 (17q21.33)

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
Cards
Entrez_Gene (NCBI)MKS1    MKS transition zone complex subunit 1
AliasesBBS13; JBTS28; MES; MKS; 
POC12
GeneCards (Weizmann)MKS1
Ensembl hg19 (Hinxton)ENSG00000011143 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000011143 [Gene_View]  ENSG00000011143 [Sequence]  chr17:58205441-58219255 [Contig_View]  MKS1 [Vega]
ICGC DataPortalENSG00000011143
TCGA cBioPortalMKS1
AceView (NCBI)MKS1
Genatlas (Paris)MKS1
SOURCE (Princeton)MKS1
Genetics Home Reference (NIH)MKS1
Genomic and cartography
GoldenPath hg38 (UCSC)MKS1  -     chr17:58205441-58219255 -  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MKS1  -     17q22   [Description]    (hg19-Feb_2009)
GoldenPathMKS1 - 17q22 [CytoView hg19]  MKS1 - 17q22 [CytoView hg38]
ImmunoBaseENSG00000011143
genome Data Viewer NCBIMKS1 [Mapview hg19]  
OMIM249000   609883   615990   617121   
Gene and transcription
Genbank (Entrez)AI208274 AK000352 AK301020 AK310815 BC010061
RefSeq transcript (Entrez)NM_001165927 NM_001321268 NM_001321269 NM_001330397 NM_017777
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MKS1
Alternative Splicing GalleryENSG00000011143
Gene ExpressionMKS1 [ NCBI-GEO ]   MKS1 [ EBI - ARRAY_EXPRESS ]   MKS1 [ SEEK ]   MKS1 [ MEM ]
Gene Expression Viewer (FireBrowse)MKS1 [ Firebrowse - Broad ]
GenevisibleExpression of MKS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54903
GTEX Portal (Tissue expression)MKS1
Human Protein AtlasENSG00000011143-MKS1 [pathology]   [cell]   [tissue]
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)C2_B9 (PS51381)   
Domains : Interpro (EBI)B9_dom   
Domain families : Pfam (Sanger)B9-C2 (PF07162)   
Domain families : Pfam (NCBI)pfam07162   
Conserved Domain (NCBI)MKS1
Blocks (Seattle)MKS1
SuperfamilyQ9NXB0
Human Protein Atlas [tissue]ENSG00000011143-MKS1 [tissue]
Peptide AtlasQ9NXB0
IPIIPI00015720   IPI00186410   IPI01014865   IPI00794034   IPI00795632   
Protein Interaction databases
DIP (DOE-UCLA)Q9NXB0
IntAct (EBI)Q9NXB0
BioGRIDMKS1
STRING (EMBL)MKS1
ZODIACMKS1
Ontologies - Pathways
QuickGOQ9NXB0
Ontology : AmiGOprotein binding  cytoplasm  centrosome  cytosol  MKS complex  MKS complex  ciliary basal body  cilium assembly  cilium assembly  cilium assembly  ciliary basal body-plasma membrane docking  
Ontology : EGO-EBIprotein binding  cytoplasm  centrosome  cytosol  MKS complex  MKS complex  ciliary basal body  cilium assembly  cilium assembly  cilium assembly  ciliary basal body-plasma membrane docking  
NDEx NetworkMKS1
Atlas of Cancer Signalling NetworkMKS1
Wikipedia pathwaysMKS1
Orthology - Evolution
OrthoDB54903
GeneTree (enSembl)ENSG00000011143
Phylogenetic Trees/Animal Genes : TreeFamMKS1
HOGENOMQ9NXB0
Homologs : HomoloGeneMKS1
Homology/Alignments : Family Browser (UCSC)MKS1
Gene fusions - Rearrangements
Fusion : QuiverMKS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMKS1 [hg38]
dbVarMKS1
ClinVarMKS1
MonarchMKS1
1000_GenomesMKS1 
Exome Variant ServerMKS1
GNOMAD BrowserENSG00000011143
Varsome BrowserMKS1
Genomic Variants (DGV)MKS1 [DGVbeta]
DECIPHERMKS1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMKS1
Mutations and Diseases : HGMDMKS1
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM249000    609883    615990    617121   
Orphanet
DisGeNETMKS1
MedgenMKS1
Genetic Testing Registry MKS1
NextProtQ9NXB0 [Medical]
GENETestsMKS1
Target ValidationMKS1
Huge Navigator MKS1 [HugePedia]
ClinGenMKS1
Clinical trials, drugs, therapy
MyCancerGenomeMKS1
Protein Interactions : CTD
Pharm GKB GenePA30840
PharosQ9NXB0
Clinical trialMKS1
Miscellaneous
canSAR (ICR)MKS1 (select the gene name)
HarmonizomeMKS1
DataMed IndexMKS1
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMKS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 25 19:34:25 CET 2021

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