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FRMD6 (FERM domain containing 6)

Identity

Alias_namesC14orf31
chromosome 14 open reading frame 31
Alias_symbol (synonym)MGC17921
willin
EX1
Other aliasWillin
c14_5320
HGNC (Hugo) FRMD6
LocusID (NCBI) 122786
Atlas_Id 52707
Location 14q22.1  [Link to chromosome band 14q22]
Location_base_pair Starts at 51489121 and ends at 51730726 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)
C1orf210 (1p34.2) / FRMD6 (14q22.1)FRMD6 (14q22.1) / BPIFB1 (20q11.21)FRMD6 (14q22.1) / CEP295 (11q21)
FRMD6 (14q22.1) / RTN4 (2p16.1)FRMD6 (14q22.1) / SCFD1 (14q12)FRMD6 14q22.1 / BPIFB1 20q11.21
FRMD6 14q22.1 / RTN4 2p16.1FRMD6 14q22.1 / SCFD1 14q12

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)FRMD6   19839
Cards
Entrez_Gene (NCBI)FRMD6  122786  FERM domain containing 6
AliasesC14orf31; EX1; Willin; c14_5320
GeneCards (Weizmann)FRMD6
Ensembl hg19 (Hinxton)ENSG00000139926 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139926 [Gene_View]  chr14:51489121-51730726 [Contig_View]  FRMD6 [Vega]
ICGC DataPortalENSG00000139926
TCGA cBioPortalFRMD6
AceView (NCBI)FRMD6
Genatlas (Paris)FRMD6
WikiGenes122786
SOURCE (Princeton)FRMD6
Genetics Home Reference (NIH)FRMD6
Genomic and cartography
GoldenPath hg38 (UCSC)FRMD6  -     chr14:51489121-51730726 +  14q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRMD6  -     14q22.1   [Description]    (hg19-Feb_2009)
EnsemblFRMD6 - 14q22.1 [CytoView hg19]  FRMD6 - 14q22.1 [CytoView hg38]
Mapping of homologs : NCBIFRMD6 [Mapview hg19]  FRMD6 [Mapview hg38]
OMIM614555   
Gene and transcription
Genbank (Entrez)AK021747 AK055545 AK126521 AK129995 AK315764
RefSeq transcript (Entrez)NM_001042481 NM_001267046 NM_001267047 NM_152330
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRMD6
Cluster EST : UnigeneHs.434914 [ NCBI ]
CGAP (NCI)Hs.434914
Alternative Splicing GalleryENSG00000139926
Gene ExpressionFRMD6 [ NCBI-GEO ]   FRMD6 [ EBI - ARRAY_EXPRESS ]   FRMD6 [ SEEK ]   FRMD6 [ MEM ]
Gene Expression Viewer (FireBrowse)FRMD6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)122786
GTEX Portal (Tissue expression)FRMD6
Human Protein AtlasENSG00000139926-FRMD6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96NE9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96NE9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96NE9
Splice isoforms : SwissVarQ96NE9
PhosPhoSitePlusQ96NE9
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain    FERM_N    FERM_PH-like_C    PH_dom-like    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  FERM_C (SM01196)  
Conserved Domain (NCBI)FRMD6
DMDM Disease mutations122786
Blocks (Seattle)FRMD6
SuperfamilyQ96NE9
Human Protein Atlas [tissue]ENSG00000139926-FRMD6 [tissue]
Peptide AtlasQ96NE9
HPRD12646
IPIIPI00043622   IPI00184707   IPI00337346   IPI01026312   IPI01026549   IPI01026193   IPI01025709   IPI01026425   IPI01025960   
Protein Interaction databases
DIP (DOE-UCLA)Q96NE9
IntAct (EBI)Q96NE9
FunCoupENSG00000139926
BioGRIDFRMD6
STRING (EMBL)FRMD6
ZODIACFRMD6
Ontologies - Pathways
QuickGOQ96NE9
Ontology : AmiGOapical constriction  structural constituent of cytoskeleton  protein binding  cytoplasm  cytoskeleton  plasma membrane  actomyosin structure organization  regulation of actin filament-based process  cellular protein localization  apical junction complex  
Ontology : EGO-EBIapical constriction  structural constituent of cytoskeleton  protein binding  cytoplasm  cytoskeleton  plasma membrane  actomyosin structure organization  regulation of actin filament-based process  cellular protein localization  apical junction complex  
Pathways : KEGGHippo signaling pathway   
NDEx NetworkFRMD6
Atlas of Cancer Signalling NetworkFRMD6
Wikipedia pathwaysFRMD6
Orthology - Evolution
OrthoDB122786
GeneTree (enSembl)ENSG00000139926
Phylogenetic Trees/Animal Genes : TreeFamFRMD6
HOVERGENQ96NE9
HOGENOMQ96NE9
Homologs : HomoloGeneFRMD6
Homology/Alignments : Family Browser (UCSC)FRMD6
Gene fusions - Rearrangements
Fusion : MitelmanFRMD6/BPIFB1 [14q22.1/20q11.21]  
Fusion : MitelmanFRMD6/RTN4 [14q22.1/2p16.1]  [t(2;14)(p16;q22)]  
Fusion : MitelmanFRMD6/SCFD1 [14q22.1/14q12]  [t(14;14)(q12;q22)]  
Fusion: TCGAFRMD6 14q22.1 BPIFB1 20q11.21 HNSC
Fusion: TCGAFRMD6 14q22.1 RTN4 2p16.1 BLCA
Fusion: TCGAFRMD6 14q22.1 SCFD1 14q12 LUAD
Fusion: Tumor Portal FRMD6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRMD6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRMD6
dbVarFRMD6
ClinVarFRMD6
1000_GenomesFRMD6 
Exome Variant ServerFRMD6
ExAC (Exome Aggregation Consortium)ENSG00000139926
GNOMAD BrowserENSG00000139926
Genetic variants : HAPMAP122786
Genomic Variants (DGV)FRMD6 [DGVbeta]
DECIPHERFRMD6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRMD6 
Mutations
ICGC Data PortalFRMD6 
TCGA Data PortalFRMD6 
Broad Tumor PortalFRMD6
OASIS PortalFRMD6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRMD6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRMD6
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 FRMD6
DgiDB (Drug Gene Interaction Database)FRMD6
DoCM (Curated mutations)FRMD6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRMD6 (select a term)
intoGenFRMD6
Cancer3DFRMD6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614555   
Orphanet
MedgenFRMD6
Genetic Testing Registry FRMD6
NextProtQ96NE9 [Medical]
TSGene122786
GENETestsFRMD6
Target ValidationFRMD6
Huge Navigator FRMD6 [HugePedia]
snp3D : Map Gene to Disease122786
BioCentury BCIQFRMD6
ClinGenFRMD6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD122786
Chemical/Pharm GKB GenePA134913028
Clinical trialFRMD6
Miscellaneous
canSAR (ICR)FRMD6 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRMD6
EVEXFRMD6
GoPubMedFRMD6
iHOPFRMD6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:50:31 CET 2017

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