Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KNTC1 (kinetochore associated 1)

Identity

Alias_symbol (synonym)KIAA0166
ROD
Other alias
HGNC (Hugo) KNTC1
LocusID (NCBI) 9735
Atlas_Id 43335
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 122527262 and ends at 122626400 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DENR (12q24.31) / KNTC1 (12q24.31)KNTC1 (12q24.31) / CCDC53 (12q23.2)KNTC1 (12q24.31) / MLXIP (12q24.31)
DENR 12q24.31 / KNTC1 12q24.31KNTC1 12q24.31 / CCDC53 12q23.2KNTC1 12q24.31 / MLXIP 12q24.31

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)KNTC1   17255
Cards
Entrez_Gene (NCBI)KNTC1  9735  kinetochore associated 1
AliasesROD
GeneCards (Weizmann)KNTC1
Ensembl hg19 (Hinxton)ENSG00000184445 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184445 [Gene_View]  chr12:122527262-122626400 [Contig_View]  KNTC1 [Vega]
ICGC DataPortalENSG00000184445
TCGA cBioPortalKNTC1
AceView (NCBI)KNTC1
Genatlas (Paris)KNTC1
WikiGenes9735
SOURCE (Princeton)KNTC1
Genetics Home Reference (NIH)KNTC1
Genomic and cartography
GoldenPath hg38 (UCSC)KNTC1  -     chr12:122527262-122626400 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KNTC1  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblKNTC1 - 12q24.31 [CytoView hg19]  KNTC1 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIKNTC1 [Mapview hg19]  KNTC1 [Mapview hg38]
OMIM607363   
Gene and transcription
Genbank (Entrez)AA157787 AI916095 AK093470 AK293403 AK303337
RefSeq transcript (Entrez)NM_014708
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KNTC1
Cluster EST : UnigeneHs.689083 [ NCBI ]
CGAP (NCI)Hs.689083
Alternative Splicing GalleryENSG00000184445
Gene ExpressionKNTC1 [ NCBI-GEO ]   KNTC1 [ EBI - ARRAY_EXPRESS ]   KNTC1 [ SEEK ]   KNTC1 [ MEM ]
Gene Expression Viewer (FireBrowse)KNTC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9735
GTEX Portal (Tissue expression)KNTC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50748   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50748  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50748
Splice isoforms : SwissVarP50748
PhosPhoSitePlusP50748
Domains : Interpro (EBI)RZZ-complex_KNTC1/ROD_C    WD40_repeat_dom   
Domain families : Pfam (Sanger)Rod_C (PF10493)   
Domain families : Pfam (NCBI)pfam10493   
Conserved Domain (NCBI)KNTC1
DMDM Disease mutations9735
Blocks (Seattle)KNTC1
SuperfamilyP50748
Human Protein AtlasENSG00000184445
Peptide AtlasP50748
HPRD09561
IPIIPI00001458   IPI00795872   IPI00795298   IPI01009288   IPI01015744   IPI01014401   
Protein Interaction databases
DIP (DOE-UCLA)P50748
IntAct (EBI)P50748
FunCoupENSG00000184445
BioGRIDKNTC1
STRING (EMBL)KNTC1
ZODIACKNTC1
Ontologies - Pathways
QuickGOP50748
Ontology : AmiGOcondensed chromosome kinetochore  spindle pole  protein binding  nucleus  kinetochore microtubule  cytosol  cytosol  plasma membrane  protein complex assembly  sister chromatid cohesion  mitotic cell cycle checkpoint  regulation of exit from mitosis  actin cytoskeleton  cell division  RZZ complex  
Ontology : EGO-EBIcondensed chromosome kinetochore  spindle pole  protein binding  nucleus  kinetochore microtubule  cytosol  cytosol  plasma membrane  protein complex assembly  sister chromatid cohesion  mitotic cell cycle checkpoint  regulation of exit from mitosis  actin cytoskeleton  cell division  RZZ complex  
NDEx NetworkKNTC1
Atlas of Cancer Signalling NetworkKNTC1
Wikipedia pathwaysKNTC1
Orthology - Evolution
OrthoDB9735
GeneTree (enSembl)ENSG00000184445
Phylogenetic Trees/Animal Genes : TreeFamKNTC1
HOVERGENP50748
HOGENOMP50748
Homologs : HomoloGeneKNTC1
Homology/Alignments : Family Browser (UCSC)KNTC1
Gene fusions - Rearrangements
Fusion : MitelmanDENR/KNTC1 [12q24.31/12q24.31]  [t(12;12)(q24;q24)]  
Fusion : MitelmanKNTC1/CCDC53 [12q24.31/12q23.2]  [t(12;12)(q23;q24)]  
Fusion : MitelmanKNTC1/MLXIP [12q24.31/12q24.31]  [t(12;12)(q24;q24)]  
Fusion: TCGADENR 12q24.31 KNTC1 12q24.31 LUAD
Fusion: TCGAKNTC1 12q24.31 CCDC53 12q23.2 LGG
Fusion: TCGAKNTC1 12q24.31 MLXIP 12q24.31 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKNTC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KNTC1
dbVarKNTC1
ClinVarKNTC1
1000_GenomesKNTC1 
Exome Variant ServerKNTC1
ExAC (Exome Aggregation Consortium)KNTC1 (select the gene name)
Genetic variants : HAPMAP9735
Genomic Variants (DGV)KNTC1 [DGVbeta]
DECIPHERKNTC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKNTC1 
Mutations
ICGC Data PortalKNTC1 
TCGA Data PortalKNTC1 
Broad Tumor PortalKNTC1
OASIS PortalKNTC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKNTC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKNTC1
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 KNTC1
DgiDB (Drug Gene Interaction Database)KNTC1
DoCM (Curated mutations)KNTC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KNTC1 (select a term)
intoGenKNTC1
Cancer3DKNTC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607363   
Orphanet
MedgenKNTC1
Genetic Testing Registry KNTC1
NextProtP50748 [Medical]
TSGene9735
GENETestsKNTC1
Target ValidationKNTC1
Huge Navigator KNTC1 [HugePedia]
snp3D : Map Gene to Disease9735
BioCentury BCIQKNTC1
ClinGenKNTC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9735
Chemical/Pharm GKB GenePA30184
Clinical trialKNTC1
Miscellaneous
canSAR (ICR)KNTC1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKNTC1
EVEXKNTC1
GoPubMedKNTC1
iHOPKNTC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:57:15 CEST 2017

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