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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: oral-facial-digital syndrome 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000046651 OFD1 9606 + X:13734745-13769353 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000340096 OFD1-001 13734745-13769353 protein_coding
  ENST00000380550 OFD1-201 13734898-13769311 protein_coding
  ENST00000380567 OFD1-002 13734745-13769353 protein_coding
  ENST00000398395 OFD1-202 13734898-13769311 protein_coding
  ENST00000464463 OFD1-004 13760640-13769171 processed_transcript
  ENST00000466534 OFD1-007 13738694-13739314 processed_transcript
  ENST00000474705 OFD1-005 13767905-13769173 processed_transcript
  ENST00000485052 OFD1-006 13734757-13736547 processed_transcript
  ENST00000490265 OFD1-003 13734761-13769353 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000340096ENST00000380550ENST00000380567ENST00000398395ENST00000464463ENST00000490265
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000340096 1.150±0.00 2.898±0.00 N/A 0.558±0.00 1.075±0.27 N/A 0.648±0.52 0.786±0.00 0.392±0.14 0.870±0.09 0.582±0.00 2.576±1.05 1.075±0.36 5.363±0.51
ENST00000380550 0.468±0.00 N/A N/A 0.740±0.00 1.373±0.36 0.685±0.00 0.450±0.00 2.587±0.00 0.213±0.00 0.744±0.00 0.621±0.00 2.327±0.79 0.931±0.45 1.835±0.73
ENST00000380567 N/A 0.950±0.00 N/A 0.318±0.00 N/A 0.824±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000398395 N/A N/A 0.313±0.00 N/A N/A N/A N/A N/A N/A 0.544±0.00 N/A N/A N/A N/A
ENST00000464463 2.224±0.00 4.800±0.00 N/A 3.125±0.00 3.168±0.00 2.353±0.00 1.985±0.00 5.497±0.00 1.185±0.00 4.938±0.00 0.890±0.00 16.119±0.00 2.733±1.86 13.022±4.89
ENST00000490265 0.213±0.00 0.823±0.00 0.603±0.00 0.658±0.00 N/A 0.993±0.69 0.217±0.00 0.570±0.24 0.847±0.00 3.231±0.00 0.182±0.00 1.511±0.53 0.179±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000OM CIL_0000OM_0002 CGP X:13712244-13769353
CIL_0000OC CIL_0000OC_0002 CGP X:13734745-13938638

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000086 TAS G2/M transition of mitotic cell cycle
GO:0000278 TAS mitotic cell cycle
GO:0005515 IPI:IEA protein binding
GO:0005634 IEA nucleus
GO:0005813 IDA centrosome
GO:0005814 IDA centriole
GO:0005829 TAS cytosol
GO:0005929 IDA cilium
GO:0006952 IEA defense response
GO:0009279 IEA cell outer membrane
GO:0010172 IEA embryonic body morphogenesis
GO:0015630 IDA microtubule cytoskeleton
GO:0016020 IDA membrane
GO:0034451 ISS centriolar satellite
GO:0035082 IEA axoneme assembly
GO:0036064 IDA ciliary basal body
GO:0043014 ISS alpha-tubulin binding
GO:0043015 ISS gamma-tubulin binding
GO:0060271 ISS cilium morphogenesis
GO:0060287 ISS epithelial cilium movement involved in determination of left/right asymmetry
GO:2000314 IEA negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000000529 ofd1 oral-facial-digital syndrome 1 protein_coding Danio_rerio
ENSMUSG00000040586 Ofd1 oral-facial-digital syndrome 1 gene homolog (human) protein_coding Mus_musculus

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