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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Ellis van Creveld syndrome
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000072840 EVC 9606 + 4:5711197-5814305 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000264956 EVC-001 5711197-5814305 protein_coding
  ENST00000506240 EVC-005 5793514-5797405 retained_intron
  ENST00000509451 EVC-002 5711215-5758311 protein_coding
  ENST00000514919 EVC-004 5752675-5753929 processed_transcript
  ENST00000515113 EVC-006 5793608-5801807 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000264956ENST00000509451
Transcript ID Adipose Adrenal Bladder Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000264956 2.106±0.00 1.786±0.00 3.487±0.00 3.591±0.00 3.189±0.00 1.488±0.00 5.339±5.20 1.850±1.52 2.222±0.62 0.223±0.07 5.201±5.00 2.900±0.00 2.359±1.23
ENST00000509451 N/A N/A N/A N/A 1.478±0.00 N/A N/A N/A N/A N/A 1.786±0.00 N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001501 TAS skeletal system development
GO:0003416 ISS endochondral bone growth
GO:0005515 IEA protein binding
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0005929 IDA cilium
GO:0007224 IEA smoothened signaling pathway
GO:0007517 TAS muscle organ development
GO:0016021 IEA integral component of membrane
GO:0036064 ISS ciliary basal body
GO:0045880 ISS positive regulation of smoothened signaling pathway
GO:0051216 IEA cartilage development

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSMUSG00000029122 Evc Ellis van Creveld gene syndrome protein_coding Mus_musculus

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