Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

FRMPD4 (FERM and PDZ domain containing 4)

Identity

Alias_namesPDZK10
PDZD10
PDZ domain containing 10
Alias_symbol (synonym)KIAA0316
Other aliasMRX104
HGNC (Hugo) FRMPD4
LocusID (NCBI) 9758
Atlas_Id 63603
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 12138466 and ends at 12724523 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FRMPD4 (Xp22.2) / CAST (5q15)FRMPD4 (Xp22.2) / KCNMA1 (10q22.3)ISLR2 (15q24.1) / FRMPD4 (Xp22.2)

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)FRMPD4   29007
Cards
Entrez_Gene (NCBI)FRMPD4  9758  FERM and PDZ domain containing 4
AliasesMRX104; PDZD10; PDZK10
GeneCards (Weizmann)FRMPD4
Ensembl hg19 (Hinxton)ENSG00000169933 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169933 [Gene_View]  chrX:12138466-12724523 [Contig_View]  FRMPD4 [Vega]
ICGC DataPortalENSG00000169933
TCGA cBioPortalFRMPD4
AceView (NCBI)FRMPD4
Genatlas (Paris)FRMPD4
WikiGenes9758
SOURCE (Princeton)FRMPD4
Genetics Home Reference (NIH)FRMPD4
Genomic and cartography
GoldenPath hg38 (UCSC)FRMPD4  -     chrX:12138466-12724523 +  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRMPD4  -     Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblFRMPD4 - Xp22.2 [CytoView hg19]  FRMPD4 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIFRMPD4 [Mapview hg19]  FRMPD4 [Mapview hg38]
OMIM300830   300838   300983   
Gene and transcription
Genbank (Entrez)AB002314 AK289694 BC113700 BC113702 BC143746
RefSeq transcript (Entrez)NM_014728
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRMPD4
Cluster EST : UnigeneHs.657507 [ NCBI ]
CGAP (NCI)Hs.657507
Alternative Splicing GalleryENSG00000169933
Gene ExpressionFRMPD4 [ NCBI-GEO ]   FRMPD4 [ EBI - ARRAY_EXPRESS ]   FRMPD4 [ SEEK ]   FRMPD4 [ MEM ]
Gene Expression Viewer (FireBrowse)FRMPD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9758
GTEX Portal (Tissue expression)FRMPD4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14CM0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14CM0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14CM0
Splice isoforms : SwissVarQ14CM0
PhosPhoSitePlusQ14CM0
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    PDZ (PS50106)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain    PDZ    PH_dom-like    Ubiquitin-rel_dom    WW_dom   
Domain families : Pfam (Sanger)FERM_M (PF00373)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00373    pfam00595   
Domain families : Smart (EMBL)B41 (SM00295)  PDZ (SM00228)  
Conserved Domain (NCBI)FRMPD4
DMDM Disease mutations9758
Blocks (Seattle)FRMPD4
PDB (SRS)4WND    4WNE    4WNF    4WNG   
PDB (PDBSum)4WND    4WNE    4WNF    4WNG   
PDB (IMB)4WND    4WNE    4WNF    4WNG   
PDB (RSDB)4WND    4WNE    4WNF    4WNG   
Structural Biology KnowledgeBase4WND    4WNE    4WNF    4WNG   
SCOP (Structural Classification of Proteins)4WND    4WNE    4WNF    4WNG   
CATH (Classification of proteins structures)4WND    4WNE    4WNF    4WNG   
SuperfamilyQ14CM0
Human Protein AtlasENSG00000169933
Peptide AtlasQ14CM0
HPRD10011
IPIIPI00187159   IPI00952618   IPI00873629   
Protein Interaction databases
DIP (DOE-UCLA)Q14CM0
IntAct (EBI)Q14CM0
FunCoupENSG00000169933
BioGRIDFRMPD4
STRING (EMBL)FRMPD4
ZODIACFRMPD4
Ontologies - Pathways
QuickGOQ14CM0
Ontology : AmiGOprotein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoskeleton  dendritic spine  positive regulation of synapse structural plasticity  
Ontology : EGO-EBIprotein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoskeleton  dendritic spine  positive regulation of synapse structural plasticity  
NDEx NetworkFRMPD4
Atlas of Cancer Signalling NetworkFRMPD4
Wikipedia pathwaysFRMPD4
Orthology - Evolution
OrthoDB9758
GeneTree (enSembl)ENSG00000169933
Phylogenetic Trees/Animal Genes : TreeFamFRMPD4
HOVERGENQ14CM0
HOGENOMQ14CM0
Homologs : HomoloGeneFRMPD4
Homology/Alignments : Family Browser (UCSC)FRMPD4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRMPD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRMPD4
dbVarFRMPD4
ClinVarFRMPD4
1000_GenomesFRMPD4 
Exome Variant ServerFRMPD4
ExAC (Exome Aggregation Consortium)FRMPD4 (select the gene name)
Genetic variants : HAPMAP9758
Genomic Variants (DGV)FRMPD4 [DGVbeta]
DECIPHERFRMPD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRMPD4 
Mutations
ICGC Data PortalFRMPD4 
TCGA Data PortalFRMPD4 
Broad Tumor PortalFRMPD4
OASIS PortalFRMPD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRMPD4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRMPD4
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)X-chromosome gene database
BioMutasearch FRMPD4
DgiDB (Drug Gene Interaction Database)FRMPD4
DoCM (Curated mutations)FRMPD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRMPD4 (select a term)
intoGenFRMPD4
Cancer3DFRMPD4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300830    300838    300983   
Orphanet
MedgenFRMPD4
Genetic Testing Registry FRMPD4
NextProtQ14CM0 [Medical]
TSGene9758
GENETestsFRMPD4
Target ValidationFRMPD4
Huge Navigator FRMPD4 [HugePedia]
snp3D : Map Gene to Disease9758
BioCentury BCIQFRMPD4
ClinGenFRMPD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9758
Chemical/Pharm GKB GenePA134977575
Clinical trialFRMPD4
Miscellaneous
canSAR (ICR)FRMPD4 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRMPD4
EVEXFRMPD4
GoPubMedFRMPD4
iHOPFRMPD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:49:57 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.