Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MKKS (McKusick-Kaufman syndrome)

Identity

Alias_namesBBS6
Other aliasHMCS
KMS
MKS
HGNC (Hugo) MKKS
LocusID (NCBI) 8195
Atlas_Id 54462
Location 20p12.2  [Link to chromosome band 20p12]
Location_base_pair Starts at 10385428 and ends at 10412573 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MKKS (20p12.2) / TMEM45A (3q12.2)

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)MKKS   7108
Cards
Entrez_Gene (NCBI)MKKS  8195  McKusick-Kaufman syndrome
AliasesBBS6; HMCS; KMS; MKS
GeneCards (Weizmann)MKKS
Ensembl hg19 (Hinxton)ENSG00000125863 [Gene_View]  chr20:10385428-10412573 [Contig_View]  MKKS [Vega]
Ensembl hg38 (Hinxton)ENSG00000125863 [Gene_View]  chr20:10385428-10412573 [Contig_View]  MKKS [Vega]
ICGC DataPortalENSG00000125863
TCGA cBioPortalMKKS
AceView (NCBI)MKKS
Genatlas (Paris)MKKS
WikiGenes8195
SOURCE (Princeton)MKKS
Genetics Home Reference (NIH)MKKS
Genomic and cartography
GoldenPath hg19 (UCSC)MKKS  -     chr20:10385428-10412573 -  20p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MKKS  -     20p12.2   [Description]    (hg38-Dec_2013)
EnsemblMKKS - 20p12.2 [CytoView hg19]  MKKS - 20p12.2 [CytoView hg38]
Mapping of homologs : NCBIMKKS [Mapview hg19]  MKKS [Mapview hg38]
OMIM209900   236700   604896   605231   
Gene and transcription
Genbank (Entrez)AF075024 AF221992 AF221993 AF275813 AK025741
RefSeq transcript (Entrez)NM_018848 NM_170784
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_009109 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)MKKS
Cluster EST : UnigeneHs.741430 [ NCBI ]
CGAP (NCI)Hs.741430
Alternative Splicing GalleryENSG00000125863
Gene ExpressionMKKS [ NCBI-GEO ]   MKKS [ EBI - ARRAY_EXPRESS ]   MKKS [ SEEK ]   MKKS [ MEM ]
Gene Expression Viewer (FireBrowse)MKKS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8195
GTEX Portal (Tissue expression)MKKS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPJ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPJ1
Splice isoforms : SwissVarQ9NPJ1
PhosPhoSitePlusQ9NPJ1
Domains : Interpro (EBI)Cpn60/TCP-1    GroEL-like_apical_dom    GROEL-like_equatorial    MKKS   
Domain families : Pfam (Sanger)Cpn60_TCP1 (PF00118)   
Domain families : Pfam (NCBI)pfam00118   
Conserved Domain (NCBI)MKKS
DMDM Disease mutations8195
Blocks (Seattle)MKKS
SuperfamilyQ9NPJ1
Human Protein AtlasENSG00000125863
Peptide AtlasQ9NPJ1
HPRD05356
IPIIPI00014939   IPI00020827   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPJ1
IntAct (EBI)Q9NPJ1
FunCoupENSG00000125863
BioGRIDMKKS
STRING (EMBL)MKKS
ZODIACMKKS
Ontologies - Pathways
QuickGOQ9NPJ1
Ontology : AmiGORNA polymerase II repressing transcription factor binding  heart looping  protein binding  ATP binding  intracellular  centrosome  cytosol  protein folding  spermatid development  determination of left/right symmetry  heart development  visual perception  sensory perception of smell  gonad development  negative regulation of gene expression  artery smooth muscle contraction  striatum development  hippocampus development  cerebral cortex development  negative regulation of actin filament polymerization  motile cilium  melanosome transport  negative regulation of GTPase activity  nonmotile primary cilium assembly  social behavior  negative regulation of appetite by leptin-mediated signaling pathway  positive regulation of multicellular organism growth  vasodilation  cilium assembly  fat cell differentiation  photoreceptor cell maintenance  negative regulation of blood pressure  intracellular transport  brain morphogenesis  detection of mechanical stimulus involved in sensory perception of sound  unfolded protein binding  chaperone-mediated protein complex assembly  cartilage development  regulation of stress fiber assembly  pigment granule aggregation in cell center  convergent extension involved in gastrulation  cilium morphogenesis  regulation of cilium beat frequency involved in ciliary motility  face development  kinociliary basal body  
Ontology : EGO-EBIRNA polymerase II repressing transcription factor binding  heart looping  protein binding  ATP binding  intracellular  centrosome  cytosol  protein folding  spermatid development  determination of left/right symmetry  heart development  visual perception  sensory perception of smell  gonad development  negative regulation of gene expression  artery smooth muscle contraction  striatum development  hippocampus development  cerebral cortex development  negative regulation of actin filament polymerization  motile cilium  melanosome transport  negative regulation of GTPase activity  nonmotile primary cilium assembly  social behavior  negative regulation of appetite by leptin-mediated signaling pathway  positive regulation of multicellular organism growth  vasodilation  cilium assembly  fat cell differentiation  photoreceptor cell maintenance  negative regulation of blood pressure  intracellular transport  brain morphogenesis  detection of mechanical stimulus involved in sensory perception of sound  unfolded protein binding  chaperone-mediated protein complex assembly  cartilage development  regulation of stress fiber assembly  pigment granule aggregation in cell center  convergent extension involved in gastrulation  cilium morphogenesis  regulation of cilium beat frequency involved in ciliary motility  face development  kinociliary basal body  
NDEx NetworkMKKS
Atlas of Cancer Signalling NetworkMKKS
Wikipedia pathwaysMKKS
Orthology - Evolution
OrthoDB8195
GeneTree (enSembl)ENSG00000125863
Phylogenetic Trees/Animal Genes : TreeFamMKKS
HOVERGENQ9NPJ1
HOGENOMQ9NPJ1
Homologs : HomoloGeneMKKS
Homology/Alignments : Family Browser (UCSC)MKKS
Gene fusions - Rearrangements
Fusion : MitelmanPCNX/MKKS [14q24.2/20p12.2]  [t(14;20)(q24;p12)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMKKS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MKKS
dbVarMKKS
ClinVarMKKS
1000_GenomesMKKS 
Exome Variant ServerMKKS
ExAC (Exome Aggregation Consortium)MKKS (select the gene name)
Genetic variants : HAPMAP8195
Genomic Variants (DGV)MKKS [DGVbeta]
DECIPHER (Syndromes)20:10385428-10412573  ENSG00000125863
CONAN: Copy Number AnalysisMKKS 
Mutations
ICGC Data PortalMKKS 
TCGA Data PortalMKKS 
Broad Tumor PortalMKKS
OASIS PortalMKKS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMKKS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMKKS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch MKKS
DgiDB (Drug Gene Interaction Database)MKKS
DoCM (Curated mutations)MKKS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MKKS (select a term)
intoGenMKKS
Cancer3DMKKS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM209900    236700    604896    605231   
Orphanet2286    3244   
MedgenMKKS
Genetic Testing Registry MKKS
NextProtQ9NPJ1 [Medical]
TSGene8195
GENETestsMKKS
Huge Navigator MKKS [HugePedia]
snp3D : Map Gene to Disease8195
BioCentury BCIQMKKS
ClinGenMKKS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8195
Chemical/Pharm GKB GenePA30826
Clinical trialMKKS
Miscellaneous
canSAR (ICR)MKKS (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMKKS
EVEXMKKS
GoPubMedMKKS
iHOPMKKS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:10:44 CEST 2017

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