C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: dysferlin
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000135636 DYSF 9606 + 2:71453722-71686768 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000258104 DYSF-001 71453722-71686768 protein_coding
  ENST00000394120 DYSF-003 71466702-71686648 protein_coding
  ENST00000409366 DYSF-006 71466702-71686648 protein_coding
  ENST00000409582 DYSF-011 71453722-71686648 protein_coding
  ENST00000409651 DYSF-002 71466702-71686648 protein_coding
  ENST00000409744 DYSF-005 71466702-71686648 protein_coding
  ENST00000409762 DYSF-004 71453722-71686648 protein_coding
  ENST00000410020 DYSF-007 71466702-71686648 protein_coding
  ENST00000410041 DYSF-009 71466702-71686648 protein_coding
  ENST00000413539 DYSF-021 71453722-71686648 protein_coding
  ENST00000429174 DYSF-020 71453722-71686648 protein_coding
  ENST00000461565 DYSF-018 71570138-71570916 processed_transcript
  ENST00000468173 DYSF-014 71610779-71644033 processed_transcript
  ENST00000472873 DYSF-012 71601272-71612689 processed_transcript
  ENST00000475076 DYSF-019 71576268-71600840 processed_transcript
  ENST00000479049 DYSF-016 71576899-71686763 processed_transcript
  ENST00000487180 DYSF-013 71602684-71613376 processed_transcript
  ENST00000493767 DYSF-017 71588705-71600842 processed_transcript
  ENST00000494501 DYSF-015 71601296-71612713 processed_transcript

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000258104ENST00000394120ENST00000409366ENST00000409582ENST00000409744ENST00000409762ENST00000410020ENST00000410041ENST00000429174
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000258104 2.617±0.00 4.543±0.00 N/A 0.310±0.00 0.403±0.00 N/A 2.582±1.76 N/A 1.312±0.00 N/A 22.498±13.75 N/A N/A 2.221±0.00
ENST00000394120 N/A N/A N/A N/A N/A N/A 2.488±0.00 N/A N/A N/A 8.327±0.00 N/A N/A N/A
ENST00000409366 N/A N/A N/A N/A 1.015±0.00 N/A 0.373±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000409582 N/A N/A N/A N/A N/A N/A N/A N/A 1.523±0.00 N/A N/A 0.931±0.00 4.385±0.00 0.869±0.35
ENST00000409744 1.994±0.00 N/A 0.608±0.00 N/A 1.843±0.00 0.816±0.58 N/A N/A 1.356±0.00 N/A N/A N/A N/A 0.618±0.32
ENST00000409762 N/A N/A N/A N/A N/A 2.676±0.00 N/A 1.133±0.00 N/A N/A N/A N/A N/A N/A
ENST00000410020 7.911±0.00 5.329±0.00 0.701±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 1.253±0.24 12.112±3.15 N/A
ENST00000410041 N/A N/A N/A N/A N/A N/A N/A 1.923±0.00 N/A 2.267±0.00 N/A 1.421±0.00 14.123±0.00 N/A
ENST00000429174 N/A N/A N/A N/A N/A N/A 2.264±0.00 N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003BS CIL_0003BS_0001 CGP 2:71276561-71686768
CIL_00082S CIL_00082S_0001 VISTA 2:71365351-71967340
CIL_00083T CIL_00083T_0001 VISTA 2:71370883-71973762
CIL_0003BT CIL_0003BT_0001 CGP 2:71453722-72148038

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001778 IEA plasma membrane repair
GO:0005509 IDA calcium ion binding
GO:0005515 IPI:IEA protein binding
GO:0005543 IDA phospholipid binding
GO:0005544 IMP calcium-dependent phospholipid binding
GO:0005737 IEA cytoplasm
GO:0005886 IDA plasma membrane
GO:0006906 IEA vesicle fusion
GO:0016021 IEA integral component of membrane
GO:0030027 IEA lamellipodium
GO:0030315 IDA T-tubule
GO:0031410 IEA cytoplasmic vesicle
GO:0042383 IDA sarcolemma
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000007370 dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) protein_coding Danio_rerio
ENSMUSG00000033788 Dysf dysferlin protein_coding Mus_musculus

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