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FERMT1 (FERM domain containing kindlin 1)

Identity

Alias (NCBI)C20orf42
DTGCU2
KIND1
UNC112A
URP1
HGNC (Hugo) FERMT1
HGNC Alias symbFLJ20116
URP1
KIND1
UNC112A
HGNC Alias namekindlin-1
 kinderlin
HGNC Previous nameC20orf42
HGNC Previous namechromosome 20 open reading frame 42
 fermitin family homolog 1 (Drosophila)
 fermitin family member 1
LocusID (NCBI) 55612
Atlas_Id 52820
Location 20p12.3  [Link to chromosome band 20p12]
Location_base_pair Starts at 6074845 and ends at 6123030 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)
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    FERM domain containing kindlin 1
AliasesC20orf42; DTGCU2; KIND1; UNC112A; 
URP1
GeneCards (Weizmann)FERMT1
Ensembl hg19 (Hinxton)ENSG00000101311 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101311 [Gene_View]  ENSG00000101311 [Sequence]  chr20:6074845-6123030 [Contig_View]  FERMT1 [Vega]
ICGC DataPortalENSG00000101311
TCGA cBioPortalFERMT1
AceView (NCBI)FERMT1
Genatlas (Paris)FERMT1
SOURCE (Princeton)FERMT1
Genetics Home Reference (NIH)FERMT1
Genomic and cartography
GoldenPath hg38 (UCSC)FERMT1  -     chr20:6074845-6123030 -  20p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FERMT1  -     20p12.3   [Description]    (hg19-Feb_2009)
GoldenPathFERMT1 - 20p12.3 [CytoView hg19]  FERMT1 - 20p12.3 [CytoView hg38]
ImmunoBaseENSG00000101311
Genome Data Viewer NCBIFERMT1 [Mapview hg19]  
OMIM173650   607900   
Gene and transcription
Genbank (Entrez)AB105105 AF443278 AK000123 AK000747 AK025365
RefSeq transcript (Entrez)NM_017671
Consensus coding sequences : CCDS (NCBI)FERMT1
Gene ExpressionFERMT1 [ NCBI-GEO ]   FERMT1 [ EBI - ARRAY_EXPRESS ]   FERMT1 [ SEEK ]   FERMT1 [ MEM ]
Gene Expression Viewer (FireBrowse)FERMT1 [ Firebrowse - Broad ]
GenevisibleExpression of FERMT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55612
GTEX Portal (Tissue expression)FERMT1
Human Protein AtlasENSG00000101311-FERMT1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9BQL6
Domaine pattern : Prosite (Expaxy)FERM_2 (PS00661)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Band_41_domain    FERM_2    FERM_central    Kindlin/fermitin    Kindlin_2_N    PH-like_dom_sf    PH_domain    PH_Kindlin/fermitin   
Domain families : Pfam (Sanger)FERM_M (PF00373)    Kindlin_2_N (PF18124)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam00373    pfam18124    pfam00169   
Domain families : Smart (EMBL)B41 (SM00295)  PH (SM00233)  
Conserved Domain (NCBI)FERMT1
SuperfamilyQ9BQL6
AlphaFold pdb e-kbQ9BQL6   
Human Protein Atlas [tissue]ENSG00000101311-FERMT1 [tissue]
HPRD06388
Protein Interaction databases
DIP (DOE-UCLA)Q9BQL6
IntAct (EBI)Q9BQL6
BioGRIDFERMT1
STRING (EMBL)FERMT1
ZODIACFERMT1
Ontologies - Pathways
QuickGOQ9BQL6
Ontology : AmiGOpositive regulation of cell-matrix adhesion  integrin binding  cytoplasm  cytosol  cytoskeleton  focal adhesion  focal adhesion  cell adhesion  cell adhesion  cell-matrix adhesion  integrin-mediated signaling pathway  negative regulation of gene expression  cell junction  cell-substrate junction  positive regulation of transforming growth factor beta receptor signaling pathway  ruffle membrane  positive regulation of integrin activation  positive regulation of cell adhesion mediated by integrin  negative regulation of protein import into nucleus  keratinocyte proliferation  actin filament binding  keratinocyte migration  negative regulation of timing of anagen  positive regulation of transforming growth factor beta production  basement membrane organization  cell periphery  negative regulation of canonical Wnt signaling pathway  establishment of epithelial cell polarity  positive regulation of wound healing, spreading of epidermal cells  negative regulation of stem cell proliferation  
Ontology : EGO-EBIpositive regulation of cell-matrix adhesion  integrin binding  cytoplasm  cytosol  cytoskeleton  focal adhesion  focal adhesion  cell adhesion  cell adhesion  cell-matrix adhesion  integrin-mediated signaling pathway  negative regulation of gene expression  cell junction  cell-substrate junction  positive regulation of transforming growth factor beta receptor signaling pathway  ruffle membrane  positive regulation of integrin activation  positive regulation of cell adhesion mediated by integrin  negative regulation of protein import into nucleus  keratinocyte proliferation  actin filament binding  keratinocyte migration  negative regulation of timing of anagen  positive regulation of transforming growth factor beta production  basement membrane organization  cell periphery  negative regulation of canonical Wnt signaling pathway  establishment of epithelial cell polarity  positive regulation of wound healing, spreading of epidermal cells  negative regulation of stem cell proliferation  
NDEx NetworkFERMT1
Atlas of Cancer Signalling NetworkFERMT1
Wikipedia pathwaysFERMT1
Orthology - Evolution
OrthoDB55612
GeneTree (enSembl)ENSG00000101311
Phylogenetic Trees/Animal Genes : TreeFamFERMT1
Homologs : HomoloGeneFERMT1
Homology/Alignments : Family Browser (UCSC)FERMT1
Gene fusions - Rearrangements
Fusion : MitelmanCENPV/FERMT1 [17p11.2/20p12.3]  
Fusion : MitelmanFERMT1/MCM8 [20p12.3/20p12.3]  
Fusion : MitelmanFERMT1/RBBP8 [20p12.3/18q11.2]  
Fusion : MitelmanFERMT1/TVP23C [20p12.3/17p12]  
Fusion : QuiverFERMT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFERMT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FERMT1
dbVarFERMT1
ClinVarFERMT1
MonarchFERMT1
1000_GenomesFERMT1 
Exome Variant ServerFERMT1
GNOMAD BrowserENSG00000101311
Varsome BrowserFERMT1
ACMGFERMT1 variants
VarityQ9BQL6
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]  
Somatic Mutations in Cancer : COSMIC3DFERMT1
Mutations and Diseases : HGMDFERMT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFERMT1
DgiDB (Drug Gene Interaction Database)FERMT1
DoCM (Curated mutations)FERMT1
CIViC (Clinical Interpretations of Variants in Cancer)FERMT1
Cancer3DFERMT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM173650    607900   
Orphanet2629    8620   
DisGeNETFERMT1
MedgenFERMT1
Genetic Testing Registry FERMT1
NextProtQ9BQL6 [Medical]
GENETestsFERMT1
Target ValidationFERMT1
Huge Navigator FERMT1 [HugePedia]
ClinGenFERMT1
Clinical trials, drugs, therapy
MyCancerGenomeFERMT1
Protein Interactions : CTDFERMT1
Pharm GKB GenePA162388314
PharosQ9BQL6
Clinical trialFERMT1
Miscellaneous
canSAR (ICR)FERMT1
HarmonizomeFERMT1
DataMed IndexFERMT1
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFERMT1
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 15:09:20 CEST 2021

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