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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. MKS1, Meckel syndrome, type 1
Sequence ID:NM_001165927
NM_017777
RefSeqGene ID:NG_013032
Entrez Gene ID:54903
Ensembl ID:ENSG00000011143

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CCDC28B
CEP290
MKKS
TMEM67
TRIM32
TTC8
WDPCP
MECKEL SYNDROME 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:17q22Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:17: 56282802 - 56293607

 Exon Info From UCSC:
NM_001165927
NM_017777

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3952532Full LengthBC010061Meckel syndrome, type 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_060247  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001165927 NP_001159399    
NM_017777 NP_060247 Q9NXB0 B9

Related Sequences

 
mRNAGenPeptSwissProt
BC010061 AAH10061 Q9NXB0
DQ185029 AAZ94714 Q9NXB0
AK000352 BAA91105 Q9NXB0
AK301020 BAG62637 B4DVC5
CR457229 CAG33510 Q9NXB0

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MKS1 NP_060247 M.musculus Mks1 380718 Gene Info NP_001034773 90
R.norvegicus Mks1 287612   NP_001030089 88

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)