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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: frataxin
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000165060 FXN 9606 + 9:69035259-69100178 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000377270 FXN-001 69035259-69074213 protein_coding
  ENST00000396364 FXN-201 69035563-69100178 protein_coding
  ENST00000396366 FXN-004 69035762-69073022 protein_coding
  ENST00000484259 FXN-005 69046407-69072796 protein_coding
  ENST00000498653 FXN-003 69036161-69073105 protein_coding

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'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000377270ENST00000396366ENST00000484259ENST00000498653
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000377270 0.234±0.00 N/A N/A N/A 0.067±0.00 0.061±0.00 N/A 0.252±0.00 0.896±0.00 N/A 0.347±0.00 1.826±0.00 N/A 0.495±0.00
ENST00000396366 0.795±0.00 2.703±0.00 N/A 0.318±0.00 1.197±0.38 1.109±0.00 4.832±0.00 2.364±0.00 3.463±2.95 1.028±0.17 2.450±0.78 5.687±3.07 2.065±0.38 3.684±0.00
ENST00000484259 N/A 5.073±0.00 N/A N/A 4.802±0.00 N/A N/A N/A N/A 1.470±0.00 N/A 0.864±0.00 N/A N/A
ENST00000498653 1.240±0.00 1.604±0.00 0.299±0.00 1.625±0.53 1.957±0.00 2.282±0.00 4.809±0.00 2.367±0.24 4.945±4.68 1.287±0.00 1.021±0.00 6.786±3.93 5.813±1.44 5.073±0.71

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00086N CIL_00086N_0001 VISTA 9:68507553-69110512

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004322 IEA:IDA ferroxidase activity
GO:0005515 IPI protein binding
GO:0005739 IDA:IEA mitochondrion
GO:0005759 ISS mitochondrial matrix
GO:0005829 IDA cytosol
GO:0006119 IEA oxidative phosphorylation
GO:0006783 NAS heme biosynthetic process
GO:0006811 IEA ion transport
GO:0006879 IMP cellular iron ion homeostasis
GO:0007005 IEA mitochondrion organization
GO:0007628 IEA adult walking behavior
GO:0008198 IDA ferrous iron binding
GO:0008199 IEA:IDA ferric iron binding
GO:0008284 IMP positive regulation of cell proliferation
GO:0009060 IEA aerobic respiration
GO:0009792 IEA embryo development ending in birth or egg hatching
GO:0010039 IMP response to iron ion
GO:0010722 IDA regulation of ferrochelatase activity
GO:0016226 IEA iron-sulfur cluster assembly
GO:0016540 IDA protein autoprocessing
GO:0018283 IDA iron incorporation into metallo-sulfur cluster
GO:0019230 IEA proprioception
GO:0030307 IMP positive regulation of cell growth
GO:0034986 IDA iron chaperone activity
GO:0040015 IEA negative regulation of multicellular organism growth
GO:0043066 IMP negative regulation of apoptotic process
GO:0044281 TAS small molecule metabolic process
GO:0046621 IEA negative regulation of organ growth
GO:0048554 IMP positive regulation of metalloenzyme activity
GO:0051347 IMP positive regulation of transferase activity
GO:0051349 IMP positive regulation of lyase activity
GO:0051353 IMP positive regulation of oxidoreductase activity
GO:0051536 IDA iron-sulfur cluster binding
GO:0051537 IDA 2 iron, 2 sulfur cluster binding
GO:0055114 IEA oxidation-reduction process
GO:0070301 IDA cellular response to hydrogen peroxide
GO:0090201 IMP negative regulation of release of cytochrome c from mitochondria

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000074356 fxn frataxin protein_coding Danio_rerio
ENSMUSG00000059363 Fxn frataxin protein_coding Mus_musculus

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