H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000484995 Accession number: EU515159 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
 
 

Transcript annotation summary  Locus view Protein view G-integra DiseaseInfo Viewer H-ANGEL Evola PPI viewer VaryGene H-DBAS LEGENDA Gene family TACT
H-Inv ID HIT000484995
H-Inv cluster ID Locus viewHIX0002152
H-Inv protein ID protein viewHIP000204457
Accession number EU515159.1
CAGE tag ID NA
EST ID NA
Genomic location  G-integra Help Chromosome 2
Location 2p13.2
Position 71680852- 71913778
Strand +
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (O75923)  [Identity/coverage = 98.287%/100.0%] to Homo sapiens (Human). protein.
Gene family / group NA
Gene symbol/name HGNC symbol DYSF
HGNC aliases "limb girdle muscular dystrophy 2B (autosomal recessive)"
HGNC name dysferlin
DDBJ DYSF
UniProt DYSF
EC number NA
KEGG metabolic pathway NA
PubMed ID 9731526973152710196375101963771049627711134403111982841146831211532985119598631279653414678801147020391511637715318348154694491547751515515206158156211583526916010686161007121670571116896923169599741699654117185750172874501736362017554076183061671885345921269460ALL
Related H-InvDB links Similarity Search ToolSimilarity Search Tool
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8291
KEGG GENES KEGG GENES(8291)
GeneCard GeneCardDYSF*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Mini-G