Atlas of Genetics and Cytogenetics in Oncology and Haematology

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FRMD4A (FERM domain containing 4A)

Identity

Alias (NCBI)CCAFCA
FRMD4
bA295P9.4
HGNC (Hugo) FRMD4A
HGNC Alias symbFLJ10210
KIAA1294
bA295P9.4
HGNC Previous nameFRMD4
HGNC Previous nameFERM domain containing 4
LocusID (NCBI) 55691
Atlas_Id 46677
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 13643706 and ends at 14330924 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)
CT45A4 () / FRMD4A (10p13)FBXO18 (10p15.1) / FRMD4A (10p13)FRMD4A (10p13) / APBB1IP (10p12.1)
FRMD4A (10p13) / OR13A1 (10q11.21)FRMD4A (10p13) / SYNPO (5q33.1)FRMD4A (10p13) / TMEM45B (11q24.3)
INPP5A (10q26.3) / FRMD4A (10p13)LOC100131564 () / FRMD4A (10p13)MKL2 (16p13.12) / FRMD4A (10p13)
ORAOV1 (11q13.3) / FRMD4A (10p13)FBXO18 10p15.1 / FRMD4A 10p13FRMD4A 10p13 / APBB1IP 10p12.1
FRMD4A 10p13 / OR13A1 10q11.21FRMD4A 10p13 / TMEM45B 11q24.3INPP5A 10q26.3 / FRMD4A 10p13
MKL2 16p13.12 / FRMD4A 10p13

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(10;10)(p12;p13) FRMD4A/APBB1IP
t(10;10)(p13;q11) FRMD4A/OR13A1
t(10;10)(p13;q26) INPP5A/FRMD4A
t(10;11)(p13;q24) FRMD4A/TMEM45B
t(10;16)(p13;p13) MKL2/FRMD4A

External links

Nomenclature
HGNC (Hugo)FRMD4A   25491
Cards
Entrez_Gene (NCBI)FRMD4A    FERM domain containing 4A
AliasesCCAFCA; FRMD4; bA295P9.4
GeneCards (Weizmann)FRMD4A
Ensembl hg19 (Hinxton)ENSG00000151474 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151474 [Gene_View]  ENSG00000151474 [Sequence]  chr10:13643706-14330924 [Contig_View]  FRMD4A [Vega]
ICGC DataPortalENSG00000151474
TCGA cBioPortalFRMD4A
AceView (NCBI)FRMD4A
Genatlas (Paris)FRMD4A
SOURCE (Princeton)FRMD4A
Genetics Home Reference (NIH)FRMD4A
Genomic and cartography
GoldenPath hg38 (UCSC)FRMD4A  -     chr10:13643706-14330924 -  10p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRMD4A  -     10p13   [Description]    (hg19-Feb_2009)
GoldenPathFRMD4A - 10p13 [CytoView hg19]  FRMD4A - 10p13 [CytoView hg38]
ImmunoBaseENSG00000151474
genome Data Viewer NCBIFRMD4A [Mapview hg19]  
OMIM616305   616819   
Gene and transcription
Genbank (Entrez)AB037715 AK001072 AK057828 AK093978 AK094045
RefSeq transcript (Entrez)NM_001318336 NM_001318337 NM_001318338 NM_018027
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRMD4A
Alternative Splicing GalleryENSG00000151474
Gene ExpressionFRMD4A [ NCBI-GEO ]   FRMD4A [ EBI - ARRAY_EXPRESS ]   FRMD4A [ SEEK ]   FRMD4A [ MEM ]
Gene Expression Viewer (FireBrowse)FRMD4A [ Firebrowse - Broad ]
GenevisibleExpression of FRMD4A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55691
GTEX Portal (Tissue expression)FRMD4A
Human Protein AtlasENSG00000151474-FRMD4A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2Q2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2Q2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2Q2
Splice isoforms : SwissVarQ9P2Q2
PhosPhoSitePlusQ9P2Q2
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_41_domain    DUF3338    FERM/acyl-CoA-bd_prot_sf    FERM_2    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    FRMD4A/B_FERM_C    PH-like_dom_sf    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)DUF3338 (PF11819)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam11819    pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  FERM_C (SM01196)  
Conserved Domain (NCBI)FRMD4A
Blocks (Seattle)FRMD4A
SuperfamilyQ9P2Q2
Human Protein Atlas [tissue]ENSG00000151474-FRMD4A [tissue]
Peptide AtlasQ9P2Q2
HPRD13553
IPIIPI00644865   IPI00748339   IPI00100426   IPI00514952   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2Q2
IntAct (EBI)Q9P2Q2
BioGRIDFRMD4A
STRING (EMBL)FRMD4A
ZODIACFRMD4A
Ontologies - Pathways
QuickGOQ9P2Q2
Ontology : AmiGOcytoplasm  cytoskeleton  adherens junction  bicellular tight junction  protein binding, bridging  negative regulation of protein secretion  positive regulation of protein secretion  establishment of epithelial cell polarity  
Ontology : EGO-EBIcytoplasm  cytoskeleton  adherens junction  bicellular tight junction  protein binding, bridging  negative regulation of protein secretion  positive regulation of protein secretion  establishment of epithelial cell polarity  
NDEx NetworkFRMD4A
Atlas of Cancer Signalling NetworkFRMD4A
Wikipedia pathwaysFRMD4A
Orthology - Evolution
OrthoDB55691
GeneTree (enSembl)ENSG00000151474
Phylogenetic Trees/Animal Genes : TreeFamFRMD4A
HOGENOMQ9P2Q2
Homologs : HomoloGeneFRMD4A
Homology/Alignments : Family Browser (UCSC)FRMD4A
Gene fusions - Rearrangements
Fusion : MitelmanFBXO18/FRMD4A [10p15.1/10p13]  
Fusion : MitelmanFRMD4A/APBB1IP [10p13/10p12.1]  
Fusion : MitelmanFRMD4A/OR13A1 [10p13/10q11.21]  
Fusion : MitelmanFRMD4A/TMEM45B [10p13/11q24.3]  
Fusion : MitelmanINPP5A/FRMD4A [10q26.3/10p13]  
Fusion : MitelmanMKL2/FRMD4A [16p13.12/10p13]  
Fusion PortalFBXO18 10p15.1 FRMD4A 10p13 PRAD
Fusion PortalFRMD4A 10p13 APBB1IP 10p12.1 SKCM
Fusion PortalFRMD4A 10p13 OR13A1 10q11.21 LGG
Fusion PortalFRMD4A 10p13 TMEM45B 11q24.3 OV
Fusion PortalINPP5A 10q26.3 FRMD4A 10p13 OV
Fusion PortalMKL2 16p13.12 FRMD4A 10p13 BLCA
Fusion : QuiverFRMD4A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRMD4A [hg38]
dbVarFRMD4A
ClinVarFRMD4A
MonarchFRMD4A
1000_GenomesFRMD4A 
Exome Variant ServerFRMD4A
GNOMAD BrowserENSG00000151474
Varsome BrowserFRMD4A
Genomic Variants (DGV)FRMD4A [DGVbeta]
DECIPHERFRMD4A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRMD4A 
Mutations
ICGC Data PortalFRMD4A 
TCGA Data PortalFRMD4A 
Broad Tumor PortalFRMD4A
OASIS PortalFRMD4A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRMD4A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFRMD4A
Mutations and Diseases : HGMDFRMD4A
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 FRMD4A
DgiDB (Drug Gene Interaction Database)FRMD4A
DoCM (Curated mutations)FRMD4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRMD4A (select a term)
intoGenFRMD4A
Cancer3DFRMD4A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616305    616819   
Orphanet
DisGeNETFRMD4A
MedgenFRMD4A
Genetic Testing Registry FRMD4A
NextProtQ9P2Q2 [Medical]
GENETestsFRMD4A
Target ValidationFRMD4A
Huge Navigator FRMD4A [HugePedia]
ClinGenFRMD4A
Clinical trials, drugs, therapy
MyCancerGenomeFRMD4A
Protein Interactions : CTD
Pharm GKB GenePA134946784
PharosQ9P2Q2
Clinical trialFRMD4A
Miscellaneous
canSAR (ICR)FRMD4A (select the gene name)
HarmonizomeFRMD4A
DataMed IndexFRMD4A
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFRMD4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:16:14 CET 2021
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