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TCOF1 (treacle ribosome biogenesis factor 1)

Identity

Alias (NCBI)MFD1
TCS
TCS1
treacle
HGNC (Hugo) TCOF1
HGNC Alias symbtreacle
TCS
HGNC Previous nameTreacher Collins-Franceschetti syndrome 1
LocusID (NCBI) 6949
Atlas_Id 56165
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 150357697 and ends at 150400293 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;5)(q21;q32) PDE4DIP/PDGFRB::t(1;5)(q21-23;q32) TPM3/PDGFRB::t(1;5)(q21-23;q31-33)


External links

 

Nomenclature
HGNC (Hugo)TCOF1   11654
Cards
Entrez_Gene (NCBI)TCOF1    treacle ribosome biogenesis factor 1
AliasesMFD1; TCS; TCS1; treacle
GeneCards (Weizmann)TCOF1
Ensembl hg19 (Hinxton)ENSG00000070814 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070814 [Gene_View]  ENSG00000070814 [Sequence]  chr5:150357697-150400293 [Contig_View]  TCOF1 [Vega]
ICGC DataPortalENSG00000070814
TCGA cBioPortalTCOF1
AceView (NCBI)TCOF1
Genatlas (Paris)TCOF1
SOURCE (Princeton)TCOF1
Genetics Home Reference (NIH)TCOF1
Genomic and cartography
GoldenPath hg38 (UCSC)TCOF1  -     chr5:150357697-150400293 +  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TCOF1  -     5q32   [Description]    (hg19-Feb_2009)
GoldenPathTCOF1 - 5q32 [CytoView hg19]  TCOF1 - 5q32 [CytoView hg38]
ImmunoBaseENSG00000070814
Genome Data Viewer NCBITCOF1 [Mapview hg19]  
OMIM154500   606847   
Gene and transcription
Genbank (Entrez)AB209317 AI419459 AI939467 AK096467 AK225284
RefSeq transcript (Entrez)NM_000356 NM_001008656 NM_001008657 NM_001135243 NM_001135244 NM_001135245 NM_001195141 NM_001371623
Consensus coding sequences : CCDS (NCBI)TCOF1
Gene ExpressionTCOF1 [ NCBI-GEO ]   TCOF1 [ EBI - ARRAY_EXPRESS ]   TCOF1 [ SEEK ]   TCOF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TCOF1 [ Firebrowse - Broad ]
GenevisibleExpression of TCOF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6949
GTEX Portal (Tissue expression)TCOF1
Human Protein AtlasENSG00000070814-TCOF1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ13428
Domaine pattern : Prosite (Expaxy)LISH (PS50896)   
Domains : Interpro (EBI)LisH    Treacle    Treacle_dom   
Domain families : Pfam (Sanger)Treacle (PF03546)   
Domain families : Pfam (NCBI)pfam03546   
Domain families : Smart (EMBL)LisH (SM00667)  
Conserved Domain (NCBI)TCOF1
SuperfamilyQ13428
AlphaFold pdb e-kbQ13428   
Human Protein Atlas [tissue]ENSG00000070814-TCOF1 [tissue]
HPRD06026
Protein Interaction databases
DIP (DOE-UCLA)Q13428
IntAct (EBI)Q13428
BioGRIDTCOF1
STRING (EMBL)TCOF1
ZODIACTCOF1
Ontologies - Pathways
QuickGOQ13428
Ontology : AmiGOskeletal system development  fibrillar center  RNA binding  transporter activity  protein binding  nucleoplasm  nucleolus  nucleolus  cytosol  regulation of translation  neural crest formation  neural crest cell development  protein-macromolecule adaptor activity  nucleolar large rRNA transcription by RNA polymerase I  protein heterodimerization activity  scaffold protein binding  scaffold protein binding  
Ontology : EGO-EBIskeletal system development  fibrillar center  RNA binding  transporter activity  protein binding  nucleoplasm  nucleolus  nucleolus  cytosol  regulation of translation  neural crest formation  neural crest cell development  protein-macromolecule adaptor activity  nucleolar large rRNA transcription by RNA polymerase I  protein heterodimerization activity  scaffold protein binding  scaffold protein 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
Homologs : HomoloGeneTCOF1
Homology/Alignments : Family Browser (UCSC)TCOF1
Gene fusions - Rearrangements
Fusion : QuiverTCOF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTCOF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TCOF1
dbVarTCOF1
ClinVarTCOF1
MonarchTCOF1
1000_GenomesTCOF1 
Exome Variant ServerTCOF1
GNOMAD BrowserENSG00000070814
Varsome BrowserTCOF1
ACMGTCOF1 variants
VarityQ13428
Genomic Variants (DGV)TCOF1 [DGVbeta]
DECIPHERTCOF1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTCOF1
Mutations and Diseases : HGMDTCOF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTCOF1
DgiDB (Drug Gene Interaction Database)TCOF1
DoCM (Curated mutations)TCOF1
CIViC (Clinical Interpretations of Variants in Cancer)TCOF1
Cancer3DTCOF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154500    606847   
Orphanet293   
DisGeNETTCOF1
MedgenTCOF1
Genetic Testing Registry TCOF1
NextProtQ13428 [Medical]
GENETestsTCOF1
Target ValidationTCOF1
Huge Navigator TCOF1 [HugePedia]
ClinGenTCOF1
Clinical trials, drugs, therapy
MyCancerGenomeTCOF1
Protein Interactions : CTDTCOF1
Pharm GKB GenePA36405
PharosQ13428
Clinical trialTCOF1
Miscellaneous
canSAR (ICR)TCOF1
HarmonizomeTCOF1
DataMed IndexTCOF1
Probes
Litterature
PubMed150 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTCOF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:34:37 CEST 2021

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