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

FKTN (fukutin)

Identity

Alias_namesFCMD
Fukuyama type congenital muscular dystrophy (fukutin)
Alias_symbol (synonym)LGMD2M
Other aliasCMD1X
MDDGA4
MDDGB4
MDDGC4
HGNC (Hugo) FKTN
LocusID (NCBI) 2218
Atlas_Id 55979
Location 9q31.2  [Link to chromosome band 9q31]
Location_base_pair Starts at 105558130 and ends at 105641118 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FKTN (9q31.2) / RPL39 (Xq24)TMEM38B (9q31.2) / FKTN (9q31.2)

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)FKTN   3622
LRG (Locus Reference Genomic)LRG_434
Cards
Entrez_Gene (NCBI)FKTN  2218  fukutin
AliasesCMD1X; FCMD; LGMD2M; MDDGA4; 
MDDGB4; MDDGC4
GeneCards (Weizmann)FKTN
Ensembl hg19 (Hinxton)ENSG00000106692 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106692 [Gene_View]  chr9:105558130-105641118 [Contig_View]  FKTN [Vega]
ICGC DataPortalENSG00000106692
TCGA cBioPortalFKTN
AceView (NCBI)FKTN
Genatlas (Paris)FKTN
WikiGenes2218
SOURCE (Princeton)FKTN
Genetics Home Reference (NIH)FKTN
Genomic and cartography
GoldenPath hg38 (UCSC)FKTN  -     chr9:105558130-105641118 +  9q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FKTN  -     9q31.2   [Description]    (hg19-Feb_2009)
EnsemblFKTN - 9q31.2 [CytoView hg19]  FKTN - 9q31.2 [CytoView hg38]
Mapping of homologs : NCBIFKTN [Mapview hg19]  FKTN [Mapview hg38]
OMIM236670   253800   607440   611588   611615   613152   
Gene and transcription
Genbank (Entrez)AB008226 AB609007 AK300840 AK304460 AL601876
RefSeq transcript (Entrez)NM_001079802 NM_001198963 NM_006731
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FKTN
Cluster EST : UnigeneHs.55777 [ NCBI ]
CGAP (NCI)Hs.55777
Alternative Splicing GalleryENSG00000106692
Gene ExpressionFKTN [ NCBI-GEO ]   FKTN [ EBI - ARRAY_EXPRESS ]   FKTN [ SEEK ]   FKTN [ MEM ]
Gene Expression Viewer (FireBrowse)FKTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2218
GTEX Portal (Tissue expression)FKTN
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75072   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75072  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75072
Splice isoforms : SwissVarO75072
Catalytic activity : Enzyme2.-.-.- [ Enzyme-Expasy ]   2.-.-.-2.-.-.- [ IntEnz-EBI ]   2.-.-.- [ BRENDA ]   2.-.-.- [ KEGG ]   
PhosPhoSitePlusO75072
Domains : Interpro (EBI)Fukutin-related    LicD_fam   
Domain families : Pfam (Sanger)LicD (PF04991)   
Domain families : Pfam (NCBI)pfam04991   
Conserved Domain (NCBI)FKTN
DMDM Disease mutations2218
Blocks (Seattle)FKTN
SuperfamilyO75072
Human Protein AtlasENSG00000106692
Peptide AtlasO75072
HPRD06308
IPIIPI00306835   IPI01011524   IPI00645946   IPI00552726   IPI00552582   
Protein Interaction databases
DIP (DOE-UCLA)O75072
IntAct (EBI)O75072
FunCoupENSG00000106692
BioGRIDFKTN
STRING (EMBL)FKTN
ZODIACFKTN
Ontologies - Pathways
QuickGOO75072
Ontology : AmiGOGolgi membrane  extracellular space  nucleus  endoplasmic reticulum  Golgi apparatus  cis-Golgi network  nervous system development  muscle organ development  negative regulation of cell proliferation  integral component of membrane  transferase activity  protein O-linked mannosylation  negative regulation of JNK cascade  regulation of protein glycosylation  
Ontology : EGO-EBIGolgi membrane  extracellular space  nucleus  endoplasmic reticulum  Golgi apparatus  cis-Golgi network  nervous system development  muscle organ development  negative regulation of cell proliferation  integral component of membrane  transferase activity  protein O-linked mannosylation  negative regulation of JNK cascade  regulation of protein glycosylation  
NDEx NetworkFKTN
Atlas of Cancer Signalling NetworkFKTN
Wikipedia pathwaysFKTN
Orthology - Evolution
OrthoDB2218
GeneTree (enSembl)ENSG00000106692
Phylogenetic Trees/Animal Genes : TreeFamFKTN
HOVERGENO75072
HOGENOMO75072
Homologs : HomoloGeneFKTN
Homology/Alignments : Family Browser (UCSC)FKTN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFKTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FKTN
dbVarFKTN
ClinVarFKTN
1000_GenomesFKTN 
Exome Variant ServerFKTN
ExAC (Exome Aggregation Consortium)FKTN (select the gene name)
Genetic variants : HAPMAP2218
Genomic Variants (DGV)FKTN [DGVbeta]
DECIPHERFKTN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFKTN 
Mutations
ICGC Data PortalFKTN 
TCGA Data PortalFKTN 
Broad Tumor PortalFKTN
OASIS PortalFKTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFKTN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFKTN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch FKTN
DgiDB (Drug Gene Interaction Database)FKTN
DoCM (Curated mutations)FKTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FKTN (select a term)
intoGenFKTN
Cancer3DFKTN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236670    253800    607440    611588    611615    613152   
Orphanet635    18521    22511    8726    8725    8724   
MedgenFKTN
Genetic Testing Registry FKTN
NextProtO75072 [Medical]
TSGene2218
GENETestsFKTN
Target ValidationFKTN
Huge Navigator FKTN [HugePedia]
snp3D : Map Gene to Disease2218
BioCentury BCIQFKTN
ClinGenFKTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2218
Chemical/Pharm GKB GenePA162388669
Clinical trialFKTN
Miscellaneous
canSAR (ICR)FKTN (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFKTN
EVEXFKTN
GoPubMedFKTN
iHOPFKTN
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 : Mon Sep 25 19:08:36 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.