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TCOF1 (treacle ribosome biogenesis factor 1)

Identity

Alias_namesTreacher Collins-Franceschetti syndrome 1
Alias_symbol (synonym)treacle
TCS
Other aliasMFD1
TCS1
HGNC (Hugo) TCOF1
LocusID (NCBI) 6949
Atlas_Id 56165
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 149737202 and ends at 149779871 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GTF2F1 (19p13.3) / TCOF1 (5q32)HLA-C (6p21.33) / TCOF1 (5q32)NDST1 (5q33.1) / TCOF1 (5q32)
PROSER1 (13q13.3) / TCOF1 (5q32)RAD50 (5q31.1) / TCOF1 (5q32)TCOF1 (5q32) / ARMCX4 (Xq22.1)
TCOF1 (5q32) / DSP (6p24.3)TCOF1 (5q32) / EIF5A (17p13.1)

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)TCOF1   11654
Cards
Entrez_Gene (NCBI)TCOF1  6949  treacle ribosome biogenesis factor 1
AliasesMFD1; TCS; TCS1; treacle
GeneCards (Weizmann)TCOF1
Ensembl hg19 (Hinxton)ENSG00000070814 [Gene_View]  chr5:149737202-149779871 [Contig_View]  TCOF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000070814 [Gene_View]  chr5:149737202-149779871 [Contig_View]  TCOF1 [Vega]
ICGC DataPortalENSG00000070814
TCGA cBioPortalTCOF1
AceView (NCBI)TCOF1
Genatlas (Paris)TCOF1
WikiGenes6949
SOURCE (Princeton)TCOF1
Genetics Home Reference (NIH)TCOF1
Genomic and cartography
GoldenPath hg19 (UCSC)TCOF1  -     chr5:149737202-149779871 +  5q32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TCOF1  -     5q32   [Description]    (hg38-Dec_2013)
EnsemblTCOF1 - 5q32 [CytoView hg19]  TCOF1 - 5q32 [CytoView hg38]
Mapping of homologs : NCBITCOF1 [Mapview hg19]  TCOF1 [Mapview hg38]
OMIM154500   606847   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_000356 NM_001008656 NM_001008657 NM_001135243 NM_001135244 NM_001135245 NM_001195141
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TCOF1
Cluster EST : UnigeneHs.605019 [ NCBI ]
CGAP (NCI)Hs.605019
Alternative Splicing GalleryENSG00000070814
Gene ExpressionTCOF1 [ NCBI-GEO ]   TCOF1 [ EBI - ARRAY_EXPRESS ]   TCOF1 [ SEEK ]   TCOF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TCOF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6949
GTEX Portal (Tissue expression)TCOF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13428   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13428  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13428
Splice isoforms : SwissVarQ13428
PhosPhoSitePlusQ13428
Domaine pattern : Prosite (Expaxy)LISH (PS50896)   
Domains : Interpro (EBI)LisH    TCS_treacle    Treacle-like_TCS   
Domain families : Pfam (Sanger)Treacle (PF03546)   
Domain families : Pfam (NCBI)pfam03546   
Domain families : Smart (EMBL)LisH (SM00667)  
Conserved Domain (NCBI)TCOF1
DMDM Disease mutations6949
Blocks (Seattle)TCOF1
SuperfamilyQ13428
Human Protein AtlasENSG00000070814
Peptide AtlasQ13428
HPRD06026
IPIIPI00815731   IPI00298696   IPI00815944   IPI00555853   IPI00165041   IPI00914061   IPI00969501   IPI00909120   IPI00815713   IPI00966372   IPI00965844   IPI00965583   
Protein Interaction databases
DIP (DOE-UCLA)Q13428
IntAct (EBI)Q13428
FunCoupENSG00000070814
BioGRIDTCOF1
STRING (EMBL)TCOF1
ZODIACTCOF1
Ontologies - Pathways
QuickGOQ13428
Ontology : AmiGOskeletal system development  transporter activity  nucleus  nucleolus  cytoplasm  transport  poly(A) RNA binding  
Ontology : EGO-EBIskeletal system development  transporter activity  nucleus  nucleolus  cytoplasm  transport  poly(A) RNA binding  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkTCOF1
Atlas of Cancer Signalling NetworkTCOF1
Wikipedia pathwaysTCOF1
Orthology - Evolution
OrthoDB6949
GeneTree (enSembl)ENSG00000070814
Phylogenetic Trees/Animal Genes : TreeFamTCOF1
HOVERGENQ13428
HOGENOMQ13428
Homologs : HomoloGeneTCOF1
Homology/Alignments : Family Browser (UCSC)TCOF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTCOF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TCOF1
dbVarTCOF1
ClinVarTCOF1
1000_GenomesTCOF1 
Exome Variant ServerTCOF1
ExAC (Exome Aggregation Consortium)TCOF1 (select the gene name)
Genetic variants : HAPMAP6949
Genomic Variants (DGV)TCOF1 [DGVbeta]
DECIPHER (Syndromes)5:149737202-149779871  ENSG00000070814
CONAN: Copy Number AnalysisTCOF1 
Mutations
ICGC Data PortalTCOF1 
TCGA Data PortalTCOF1 
Broad Tumor PortalTCOF1
OASIS PortalTCOF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTCOF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTCOF1
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 TCOF1
DgiDB (Drug Gene Interaction Database)TCOF1
DoCM (Curated mutations)TCOF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TCOF1 (select a term)
intoGenTCOF1
Cancer3DTCOF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154500    606847   
Orphanet293   
MedgenTCOF1
Genetic Testing Registry TCOF1
NextProtQ13428 [Medical]
TSGene6949
GENETestsTCOF1
Huge Navigator TCOF1 [HugePedia]
snp3D : Map Gene to Disease6949
BioCentury BCIQTCOF1
ClinGenTCOF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6949
Chemical/Pharm GKB GenePA36405
Clinical trialTCOF1
Miscellaneous
canSAR (ICR)TCOF1 (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTCOF1
EVEXTCOF1
GoPubMedTCOF1
iHOPTCOF1
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 15:22:05 CEST 2017

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