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DYSF (dysferlin)

Identity

Other namesFER1L1
LGMD2B
MMD1
HGNC (Hugo) DYSF
LocusID (NCBI) 8291
Atlas_Id 40381
Location 2p13.2
Location_base_pair Starts at 71693832 and ends at 71913893 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DYSF (2p13.2) / DYSF (2p13.2)DYSF (2p13.2) / PRKCSH (19p13.2)DYSF (2p13.2) / ZNF638 (2p13.2)
GAS6 (13q34) / DYSF (2p13.2)LRRC15 (3q29) / DYSF (2p13.2)

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)DYSF   3097
Cards
Entrez_Gene (NCBI)DYSF  8291  dysferlin
GeneCards (Weizmann)DYSF
Ensembl hg19 (Hinxton)ENSG00000135636 [Gene_View]  chr2:71693832-71913893 [Contig_View]  DYSF [Vega]
Ensembl hg38 (Hinxton)ENSG00000135636 [Gene_View]  chr2:71693832-71913893 [Contig_View]  DYSF [Vega]
ICGC DataPortalENSG00000135636
TCGA cBioPortalDYSF
AceView (NCBI)DYSF
Genatlas (Paris)DYSF
WikiGenes8291
SOURCE (Princeton)DYSF
Genomic and cartography
GoldenPath hg19 (UCSC)DYSF  -     chr2:71693832-71913893 +  2p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DYSF  -     2p13.2   [Description]    (hg38-Dec_2013)
EnsemblDYSF - 2p13.2 [CytoView hg19]  DYSF - 2p13.2 [CytoView hg38]
Mapping of homologs : NCBIDYSF [Mapview hg19]  DYSF [Mapview hg38]
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)NC_000002 NC_018913 NG_008694 NT_022184 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 [ EBI - ARRAY_EXPRESS ]   DYSF [ SEEK ]   DYSF [ MEM ]
Gene Expression Viewer (FireBrowse)DYSF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)8291
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75923 (Uniprot)
NextProtO75923  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75923
Splice isoforms : SwissVarO75923 (Swissvar)
PhosPhoSitePlusO75923
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    FerIin-domain    Ferlin_A-domain    Ferlin_B-domain    Ferlin_C    Peroxin/Ferlin   
Domain families : Pfam (Sanger)C2 (PF00168)    FerA (PF08165)    FerB (PF08150)    FerI (PF08151)    Ferlin_C (PF16165)   
Domain families : Pfam (NCBI)pfam00168    pfam08165    pfam08150    pfam08151    pfam16165   
Domain families : Smart (EMBL)C2 (SM00239)  DysFC (SM00694)  DysFN (SM00693)  
DMDM Disease mutations8291
Blocks (Seattle)DYSF
PDB (SRS)4CAH    4CAI    4IHB    4IQH   
PDB (PDBSum)4CAH    4CAI    4IHB    4IQH   
PDB (IMB)4CAH    4CAI    4IHB    4IQH   
PDB (RSDB)4CAH    4CAI    4IHB    4IQH   
Structural Biology KnowledgeBase4CAH    4CAI    4IHB    4IQH   
SCOP (Structural Classification of Proteins)4CAH    4CAI    4IHB    4IQH   
CATH (Classification of proteins structures)4CAH    4CAI    4IHB    4IQH   
SuperfamilyO75923
Human Protein AtlasENSG00000135636
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
STRING (EMBL)DYSF
ZODIACDYSF
Ontologies - Pathways
QuickGOO75923
Ontology : AmiGOplasma membrane repair  calcium ion binding  protein binding  phospholipid binding  calcium-dependent phospholipid binding  endosome  early endosome  late endosome  plasma membrane  vesicle fusion  muscle contraction  integral component of membrane  lamellipodium  endocytic vesicle  T-tubule  cytoplasmic vesicle membrane  sarcolemma  extracellular exosome  
Ontology : EGO-EBIplasma membrane repair  calcium ion binding  protein binding  phospholipid binding  calcium-dependent phospholipid binding  endosome  early endosome  late endosome  plasma membrane  vesicle fusion  muscle contraction  integral component of membrane  lamellipodium  endocytic vesicle  T-tubule  cytoplasmic vesicle membrane  sarcolemma  extracellular exosome  
NDEx Network
Atlas of Cancer Signalling NetworkDYSF
Wikipedia pathwaysDYSF
Orthology - Evolution
OrthoDB8291
GeneTree (enSembl)ENSG00000135636
Phylogenetic Trees/Animal Genes : TreeFamDYSF
Homologs : HomoloGeneDYSF
Homology/Alignments : Family Browser (UCSC)DYSF
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDYSF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DYSF
dbVarDYSF
ClinVarDYSF
1000_GenomesDYSF 
Exome Variant ServerDYSF
ExAC (Exome Aggregation Consortium)DYSF (select the gene name)
SNP (GeneSNP Utah)DYSF
SNP : HGBaseDYSF
Genetic variants : HAPMAPDYSF
Genomic Variants (DGV)DYSF [DGVbeta]
Mutations
ICGC Data PortalDYSF 
TCGA Data PortalDYSF 
Broad Tumor PortalDYSF
OASIS PortalDYSF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDYSF 
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
BioMutasearch DYSF
DgiDB (Drug Gene Interaction Database)DYSF
DoCM (Curated mutations)DYSF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DYSF (select a term)
intoGenDYSF
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:71693832-71913893
CONAN: Copy Number AnalysisDYSF 
Mutations and Diseases : HGMDDYSF
OMIM253601    254130    603009    606768   
MedgenDYSF
Genetic Testing Registry DYSF
NextProtO75923 [Medical]
TSGene8291
GENETestsDYSF
Huge Navigator DYSF [HugePedia]  DYSF [HugeCancerGEM]
snp3D : Map Gene to Disease8291
BioCentury BCIQDYSF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8291
Chemical/Pharm GKB GenePA27554
Clinical trialDYSF
Miscellaneous
canSAR (ICR)DYSF (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDYSF
GoPubMedDYSF
iHOPDYSF
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 : Sat Apr 16 17:43:16 CEST 2016

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