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DYSF (dysferlin)

Identity

Other namesFER1L1
LGMD2B
MMD1
HGNC (Hugo) DYSF
LocusID (NCBI) 8291
Location 2p13.2
Location_base_pair Starts at 71693832 and ends at 71913893 bp from pter ( according to hg19-Feb_2009)
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)DYSF   3097
Cards
Entrez_Gene (NCBI)DYSF  8291  dysferlin
GeneCards (Weizmann)DYSF
Ensembl (Hinxton)ENSG00000135636 [Gene_View]  chr2:71693832-71913893 [Contig_View]  DYSF [Vega]
ICGC DataPortalENSG00000135636
cBioPortalDYSF
AceView (NCBI)DYSF
Genatlas (Paris)DYSF
WikiGenes8291
SOURCE (Princeton)NM_001130455 NM_001130976 NM_001130977 NM_001130978 NM_001130979 NM_001130980 NM_001130981 NM_001130982 NM_001130983 NM_001130984 NM_001130985 NM_001130986 NM_001130987 NM_003494
Genomic and cartography
GoldenPath (UCSC)DYSF  -  2p13.2   chr2:71693832-71913893 +  2p13.2   [Description]    (hg19-Feb_2009)
EnsemblDYSF - 2p13.2 [CytoView]
Mapping of homologs : NCBIDYSF [Mapview]
OMIM253601   254130   603009   606768   
Gene and transcription
Genbank (Entrez)AF075575 AI128455 AI192657 AI739271 AK074104
RefSeq transcript (Entrez)NM_001130455 NM_001130976 NM_001130977 NM_001130978 NM_001130979 NM_001130980 NM_001130981 NM_001130982 NM_001130983 NM_001130984 NM_001130985 NM_001130986 NM_001130987 NM_003494
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008694 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)DYSF
Cluster EST : UnigeneHs.252180 [ NCBI ]
CGAP (NCI)Hs.252180
Alternative Splicing : Fast-db (Paris)GSHG0016551
Alternative Splicing GalleryENSG00000135636
Gene ExpressionDYSF [ NCBI-GEO ]     DYSF [ SEEK ]   DYSF [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75923 (Uniprot)
NextProtO75923  [Medical]
With graphics : InterProO75923
Splice isoforms : SwissVarO75923 (Swissvar)
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom [organisation]   FerIin-domain [organisation]   Ferlin_A-domain [organisation]   Ferlin_B-domain [organisation]   Peroxin/Dysferlin [organisation]   Peroxin/Ferlin [organisation]  
Related proteins : CluSTrO75923
Domain families : Pfam (Sanger)C2 (PF00168)    FerA (PF08165)    FerB (PF08150)    FerI (PF08151)    Pex24p (PF06398)   
Domain families : Pfam (NCBI)pfam00168    pfam08165    pfam08150    pfam08151    pfam06398   
Domain families : Smart (EMBL)C2 (SM00239)  DysFC (SM00694)  DysFN (SM00693)  
DMDM Disease mutations8291
Blocks (Seattle)O75923
PDB (SRS)4CAH    4CAI    4IHB    4IQH   
PDB (PDBSum)4CAH    4CAI    4IHB    4IQH   
PDB (IMB)4CAH    4CAI    4IHB    4IQH   
PDB (RSDB)4CAH    4CAI    4IHB    4IQH   
Human Protein AtlasENSG00000135636 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO75923
HPRD04307
IPIIPI00871702   IPI00890768   IPI00910624   IPI00910445   IPI00890779   IPI00020210   IPI00915417   IPI00908443   IPI00908579   IPI00908936   IPI00908658   IPI00908764   IPI00908826   IPI00793867   IPI00911101   IPI00382897   
Protein Interaction databases
DIP (DOE-UCLA)O75923
IntAct (EBI)O75923
FunCoupENSG00000135636
BioGRIDDYSF
InParanoidO75923
Interologous Interaction database O75923
IntegromeDBDYSF
STRING (EMBL)DYSF
Ontologies - Pathways
Ontology : AmiGOplasma membrane repair  calcium ion binding  protein binding  phospholipid binding  calcium-dependent phospholipid binding  plasma membrane  vesicle fusion  integral component of membrane  lamellipodium  T-tubule  cytoplasmic vesicle membrane  sarcolemma  extracellular vesicular exosome  
Ontology : EGO-EBIplasma membrane repair  calcium ion binding  protein binding  phospholipid binding  calcium-dependent phospholipid binding  plasma membrane  vesicle fusion  integral component of membrane  lamellipodium  T-tubule  cytoplasmic vesicle membrane  sarcolemma  extracellular vesicular exosome  
Protein Interaction DatabaseDYSF
Wikipedia pathwaysDYSF
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DYSF
snp3D : Map Gene to Disease8291
SNP (GeneSNP Utah)DYSF
SNP : HGBaseDYSF
Genetic variants : HAPMAPDYSF
Exome VariantDYSF
1000_GenomesDYSF 
ICGC programENSG00000135636 
Somatic Mutations in Cancer : COSMICDYSF 
CONAN: Copy Number AnalysisDYSF 
Mutations and Diseases : HGMDDYSF
Genomic VariantsDYSF  DYSF [DGVbeta]
dbVarDYSF
ClinVarDYSF
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM253601    254130    603009    606768   
MedgenDYSF
GENETestsDYSF
Disease Genetic AssociationDYSF
Huge Navigator DYSF [HugePedia]  DYSF [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneDYSF
Homology/Alignments : Family Browser (UCSC)DYSF
Phylogenetic Trees/Animal Genes : TreeFamDYSF
Chemical/Protein Interactions : CTD8291
Chemical/Pharm GKB GenePA27554
Clinical trialDYSF
Cancer Resource (Charite)ENSG00000135636
Other databases
Probes
Litterature
PubMed113 Pubmed reference(s) in Entrez
CoreMineDYSF
iHOPDYSF
OncoSearchDYSF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:52:20 CEST 2014

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