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FERMT1 (fermitin family member 1)

Identity

Alias_namesC20orf42
chromosome 20 open reading frame 42
fermitin family homolog 1 (Drosophila)
Alias_symbol (synonym)FLJ20116
URP1
KIND1
UNC112A
Other aliasDTGCU2
HGNC (Hugo) FERMT1
LocusID (NCBI) 55612
Atlas_Id 52820
Location 20p12.3  [Link to chromosome band 20p12]
Location_base_pair Starts at 6074845 and ends at 6123544 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CENPV (17p11.2) / FERMT1 (20p12.3)FERMT1 (20p12.3) / FERMT1 (20p12.3)FERMT1 (20p12.3) / MCM8 (20p12.3)
FERMT1 (20p12.3) / RBBP7 (Xp22.2)FERMT1 (20p12.3) / RBBP8 (18q11.2)FERMT1 (20p12.3) / TVP23C (17p12)
CENPV 17p11.2 / FERMT1 20p12.3FERMT1 20p12.3 FAM18B2FERMT1 20p12.3 / MCM8 20p12.3
FERMT1 20p12.3 / RBBP8 18q11.2

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)FERMT1   15889
Cards
Entrez_Gene (NCBI)FERMT1  55612  fermitin family member 1
AliasesC20orf42; DTGCU2; KIND1; UNC112A; 
URP1
GeneCards (Weizmann)FERMT1
Ensembl hg19 (Hinxton)ENSG00000101311 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101311 [Gene_View]  chr20:6074845-6123544 [Contig_View]  FERMT1 [Vega]
ICGC DataPortalENSG00000101311
TCGA cBioPortalFERMT1
AceView (NCBI)FERMT1
Genatlas (Paris)FERMT1
WikiGenes55612
SOURCE (Princeton)FERMT1
Genetics Home Reference (NIH)FERMT1
Genomic and cartography
GoldenPath hg38 (UCSC)FERMT1  -     chr20:6074845-6123544 -  20p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FERMT1  -     20p12.3   [Description]    (hg19-Feb_2009)
EnsemblFERMT1 - 20p12.3 [CytoView hg19]  FERMT1 - 20p12.3 [CytoView hg38]
Mapping of homologs : NCBIFERMT1 [Mapview hg19]  FERMT1 [Mapview hg38]
OMIM173650   607900   
Gene and transcription
Genbank (Entrez)AB105105 AF443278 AK000123 AK000747 AK025365
RefSeq transcript (Entrez)NM_017671
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FERMT1
Cluster EST : UnigeneHs.472054 [ NCBI ]
CGAP (NCI)Hs.472054
Alternative Splicing GalleryENSG00000101311
Gene ExpressionFERMT1 [ NCBI-GEO ]   FERMT1 [ EBI - ARRAY_EXPRESS ]   FERMT1 [ SEEK ]   FERMT1 [ MEM ]
Gene Expression Viewer (FireBrowse)FERMT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55612
GTEX Portal (Tissue expression)FERMT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQL6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQL6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQL6
Splice isoforms : SwissVarQ9BQL6
PhosPhoSitePlusQ9BQL6
Domaine pattern : Prosite (Expaxy)FERM_2 (PS00661)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)FERM_M (PF00373)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam00373    pfam00169   
Domain families : Smart (EMBL)B41 (SM00295)  PH (SM00233)  
Conserved Domain (NCBI)FERMT1
DMDM Disease mutations55612
Blocks (Seattle)FERMT1
SuperfamilyQ9BQL6
Human Protein AtlasENSG00000101311
Peptide AtlasQ9BQL6
HPRD06388
IPIIPI00304754   IPI00383562   IPI00643475   IPI00220602   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQL6
IntAct (EBI)Q9BQL6
FunCoupENSG00000101311
BioGRIDFERMT1
STRING (EMBL)FERMT1
ZODIACFERMT1
Ontologies - Pathways
QuickGOQ9BQL6
Ontology : AmiGOpositive regulation of cell-matrix adhesion  cytosol  focal adhesion  cell adhesion  negative regulation of gene expression  cell junction  positive regulation of transforming growth factor beta receptor signaling pathway  filamentous actin  ruffle membrane  positive regulation of cell adhesion mediated by integrin  negative regulation of catenin import into nucleus  keratinocyte proliferation  keratinocyte migration  negative regulation of timing of anagen  basement membrane organization  negative regulation of canonical Wnt signaling pathway  establishment of epithelial cell polarity  negative regulation of stem cell proliferation  positive regulation of transforming growth factor-beta secretion  
Ontology : EGO-EBIpositive regulation of cell-matrix adhesion  cytosol  focal adhesion  cell adhesion  negative regulation of gene expression  cell junction  positive regulation of transforming growth factor beta receptor signaling pathway  filamentous actin  ruffle membrane  positive regulation of cell adhesion mediated by integrin  negative regulation of catenin import into nucleus  keratinocyte proliferation  keratinocyte migration  negative regulation of timing of anagen  basement membrane organization  negative regulation of canonical Wnt signaling pathway  establishment of epithelial cell polarity  negative regulation of stem cell proliferation  positive regulation of transforming growth factor-beta secretion  
NDEx NetworkFERMT1
Atlas of Cancer Signalling NetworkFERMT1
Wikipedia pathwaysFERMT1
Orthology - Evolution
OrthoDB55612
GeneTree (enSembl)ENSG00000101311
Phylogenetic Trees/Animal Genes : TreeFamFERMT1
HOVERGENQ9BQL6
HOGENOMQ9BQL6
Homologs : HomoloGeneFERMT1
Homology/Alignments : Family Browser (UCSC)FERMT1
Gene fusions - Rearrangements
Fusion : MitelmanCENPV/FERMT1 [17p11.2/20p12.3]  [t(17;20)(p11;p12)]  
Fusion : MitelmanFERMT1/MCM8 [20p12.3/20p12.3]  [t(20;20)(p12;p12)]  
Fusion : MitelmanFERMT1/RBBP8 [20p12.3/18q11.2]  [t(18;20)(q11;p12)]  
Fusion : MitelmanFERMT1/TVP23C [20p12.3/17p12]  [t(17;20)(p12;p12)]  
Fusion: TCGACENPV 17p11.2 FERMT1 20p12.3 BRCA
Fusion: TCGAFERMT1 20p12.3 FAM18B2 BRCA
Fusion: TCGAFERMT1 20p12.3 MCM8 20p12.3 BRCA
Fusion: TCGAFERMT1 20p12.3 RBBP8 18q11.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFERMT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FERMT1
dbVarFERMT1
ClinVarFERMT1
1000_GenomesFERMT1 
Exome Variant ServerFERMT1
ExAC (Exome Aggregation Consortium)FERMT1 (select the gene name)
Genetic variants : HAPMAP55612
Genomic Variants (DGV)FERMT1 [DGVbeta]
DECIPHERFERMT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFERMT1 
Mutations
ICGC Data PortalFERMT1 
TCGA Data PortalFERMT1 
Broad Tumor PortalFERMT1
OASIS PortalFERMT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFERMT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFERMT1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch FERMT1
DgiDB (Drug Gene Interaction Database)FERMT1
DoCM (Curated mutations)FERMT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FERMT1 (select a term)
intoGenFERMT1
Cancer3DFERMT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM173650    607900   
Orphanet2629    8620   
MedgenFERMT1
Genetic Testing Registry FERMT1
NextProtQ9BQL6 [Medical]
TSGene55612
GENETestsFERMT1
Target ValidationFERMT1
Huge Navigator FERMT1 [HugePedia]
snp3D : Map Gene to Disease55612
BioCentury BCIQFERMT1
ClinGenFERMT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55612
Chemical/Pharm GKB GenePA162388314
Clinical trialFERMT1
Miscellaneous
canSAR (ICR)FERMT1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFERMT1
EVEXFERMT1
GoPubMedFERMT1
iHOPFERMT1
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 25 19:08:20 CEST 2017

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