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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: otoferlin
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000115155 OTOF 9606 - 2:26457203-26558698 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000272371 OTOF-001 26457203-26558698 protein_coding
  ENST00000338581 OTOF-002 26457203-26478042 protein_coding
  ENST00000339598 OTOF-003 26457203-26478042 protein_coding
  ENST00000402415 OTOF-004 26457203-26478042 protein_coding
  ENST00000403946 OTOF-005 26457204-26558678 protein_coding
  ENST00000426958 OTOF-007 26472332-26473541 protein_coding
  ENST00000464574 OTOF-006 26463506-26466325 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLungMuscleOvaryPlacentaTestisENST00000338581ENST00000339598ENST00000402415ENST00000403946ENST00000464574
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Lung Muscle Ovary Placenta Testis
ENST00000338581 N/A N/A 0.129±0.05 0.003±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000339598 0.355±0.00 0.347±0.00 N/A 0.041±0.02 0.188±0.00 0.029±0.00 0.036±0.00 0.335±0.26 N/A 0.065±0.04 0.014±0.00 0.134±0.04
ENST00000402415 N/A N/A N/A N/A N/A 0.004±0.00 N/A N/A N/A N/A N/A N/A
ENST00000403946 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.023±0.00 N/A N/A
ENST00000464574 N/A N/A N/A 0.056±0.00 N/A N/A N/A N/A 0.026±0.00 0.077±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007DO CIL_0007DO_0001 CGP 2:26401916-26558698
CIL_0007WF CIL_0007WF_0001 VISTA 2:26419781-27023232
CIL_0007DN CIL_0007DN_0001 CGP 2:26457203-26579532

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0005509 ISS calcium ion binding
GO:0005515 IEA protein binding
GO:0005783 IEA endoplasmic reticulum
GO:0005829 TAS cytosol
GO:0005886 IEA plasma membrane
GO:0007605 IEA sensory perception of sound
GO:0016021 IEA integral component of membrane
GO:0016079 ISS synaptic vesicle exocytosis
GO:0030054 IEA cell junction
GO:0030672 ISS synaptic vesicle membrane
GO:0035612 IEA AP-2 adaptor complex binding
GO:0061025 TAS membrane fusion

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000020581 OTOF (1 of 2) otoferlin protein_coding Danio_rerio
ENSDARG00000030832 otof otoferlin protein_coding Danio_rerio
ENSMUSG00000062372 Otof otoferlin protein_coding Mus_musculus

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