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
ENSMUSG00000033788 Dysf 10090 + 6:84008590-84211060 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000081904 Dysf-001 84019389-84211059 protein_coding
  ENSMUST00000089595 Dysf-010 84019385-84211059 protein_coding
  ENSMUST00000113818 Dysf-002 84019386-84211060 protein_coding
  ENSMUST00000113821 Dysf-003 84008590-84211060 protein_coding
  ENSMUST00000113823 Dysf-201 84008590-84211042 protein_coding
  ENSMUST00000127459 Dysf-007 84105373-84112199 processed_transcript
  ENSMUST00000128965 Dysf-011 84210484-84211041 processed_transcript
  ENSMUST00000142711 Dysf-008 84146747-84152410 processed_transcript
  ENSMUST00000152646 Dysf-005 84106551-84116879 retained_intron
  ENSMUST00000153860 Dysf-006 84149869-84211057 processed_transcript
  ENSMUST00000168387 Dysf-202 84008915-84211059 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000081904ENSMUST00000089595ENSMUST00000113818ENSMUST00000113821ENSMUST00000113823ENSMUST00000153860ENSMUST00000168387
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000081904 7.027±3.65 5.459±1.85 N/A 0.365±0.14 2.943±0.38 N/A 2.723±0.89 4.248±0.61 0.519±0.15 2.747±0.44 1.422±0.00 2.686±1.11 3.171±2.64 0.105±0.00
ENSMUST00000089595 0.877±0.00 N/A N/A N/A N/A N/A N/A N/A 0.111±0.00 0.891±0.00 4.930±1.10 N/A N/A N/A
ENSMUST00000113818 N/A N/A 0.759±0.04 N/A 2.184±0.61 N/A 3.123±0.47 N/A N/A 1.289±0.00 N/A N/A N/A 0.118±0.02
ENSMUST00000113821 N/A N/A 1.096±0.00 N/A 1.383±0.00 N/A N/A N/A N/A N/A 3.452±1.08 N/A N/A 0.143±0.04
ENSMUST00000113823 1.405±0.00 1.478±0.11 N/A 0.075±0.00 1.383±0.83 0.800±0.35 2.653±0.67 N/A N/A 1.352±0.14 N/A 1.349±0.55 6.441±4.90 0.335±0.00
ENSMUST00000153860 6.271±2.73 4.446±0.35 3.757±0.06 0.647±0.33 N/A N/A 14.189±0.00 3.686±0.51 0.620±0.32 N/A 4.320±0.00 2.888±0.01 7.506±4.73 0.508±0.26
ENSMUST00000168387 N/A N/A N/A 0.240±0.00 N/A N/A N/A N/A N/A N/A N/A 0.795±0.24 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00082S CIL_00082S_0002 VISTA 6:83890934-84492863
CIL_00083T CIL_00083T_0002 VISTA 6:83896001-84498367
CIL_0003BS CIL_0003BS_0002 CGP 6:83914353-84211060
CIL_0003BT CIL_0003BT_0002 CGP 6:84008590-84593908

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001778 IMP plasma membrane repair
GO:0005509 ISS calcium ion binding
GO:0005515 IPI protein binding
GO:0005543 ISS phospholipid binding
GO:0005544 IEA calcium-dependent phospholipid binding
GO:0005737 IEA cytoplasm
GO:0005886 ISS plasma membrane
GO:0006906 IMP vesicle fusion
GO:0016021 IEA integral component of membrane
GO:0030027 IDA lamellipodium
GO:0030315 IDA T-tubule
GO:0031410 IDA cytoplasmic vesicle
GO:0042383 IDA sarcolemma
GO:0070062 IEA 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
ENSG00000135636 DYSF dysferlin protein_coding Homo_sapiens

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