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
ENSMUSG00000062372 Otof 10090 - 5:30367066-30461932 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000074171 Otof-201 30367066-30461932 protein_coding
  ENSMUST00000114747 Otof-202 30367066-30461932 protein_coding
  ENSMUST00000128177 Otof-004 30404909-30408061 retained_intron
  ENSMUST00000133509 Otof-002 30370700-30461902 protein_coding
  ENSMUST00000144125 Otof-001 30370076-30461932 protein_coding
  ENSMUST00000150734 Otof-003 30370076-30461932 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000074171ENSMUST00000114747ENSMUST00000133509ENSMUST00000144125ENSMUST00000150734
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000074171 N/A N/A 0.730±0.09 N/A N/A 0.026±0.01 N/A N/A N/A 0.036±0.00 N/A 0.013±0.00 0.107±0.01
ENSMUST00000114747 0.028±0.00 0.150±0.00 0.255±0.00 0.163±0.05 0.016±0.01 N/A 0.018±0.00 0.007±0.00 0.057±0.02 0.019±0.00 0.660±0.26 0.051±0.00 0.179±0.08
ENSMUST00000133509 N/A N/A N/A N/A N/A N/A 0.007±0.00 0.015±0.00 N/A 0.013±0.01 0.351±0.00 0.054±0.00 N/A
ENSMUST00000144125 N/A N/A N/A N/A N/A N/A N/A 0.002±0.00 N/A N/A N/A 0.028±0.00 N/A
ENSMUST00000150734 N/A 0.044±0.00 0.358±0.00 N/A 0.048±0.00 N/A N/A 0.009±0.00 N/A N/A N/A N/A 0.038±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007DO CIL_0007DO_0002 CGP 5:30281388-30461932
CIL_0007WF CIL_0007WF_0002 VISTA 5:30314016-30916922
CIL_0007DN CIL_0007DN_0002 CGP 5:30367066-30484088

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005509 IDA calcium ion binding
GO:0005515 IPI protein binding
GO:0005783 IEA endoplasmic reticulum
GO:0005886 IEA plasma membrane
GO:0007605 IEA sensory perception of sound
GO:0016021 IEA integral component of membrane
GO:0016079 IMP synaptic vesicle exocytosis
GO:0030054 IEA cell junction
GO:0030672 IDA synaptic vesicle membrane
GO:0035612 IDA AP-2 adaptor complex binding

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
ENSG00000115155 OTOF otoferlin protein_coding Homo_sapiens

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