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 gene syndrome
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000029122 Evc 10090 - 5:37289098-37336894 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000031005 Evc-001 37299171-37336894 protein_coding
  ENSMUST00000114148 Evc-005 37313269-37336866 protein_coding
  ENSMUST00000114154 Evc-002 37289098-37333566 protein_coding
  ENSMUST00000124426 Evc-006 37316216-37318491 retained_intron
  ENSMUST00000133376 Evc-003 37319191-37336878 retained_intron
  ENSMUST00000139550 Evc-008 37300484-37301613 protein_coding
  ENSMUST00000146568 Evc-009 37299722-37307229 protein_coding
  ENSMUST00000149890 Evc-004 37300439-37312364 retained_intron
  ENSMUST00000154885 Evc-007 37314565-37318372 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000031005ENSMUST00000114148ENSMUST00000114154ENSMUST00000133376ENSMUST00000146568ENSMUST00000149890
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000031005 3.544±2.17 3.306±0.63 6.088±0.46 1.918±0.50 3.545±1.22 2.203±0.70 0.937±0.33 29.301±3.12 0.706±0.31 2.952±0.70 1.835±0.42 7.005±2.87 0.858±0.30 0.118±0.06
ENSMUST00000114148 2.765±0.00 1.696±0.33 N/A N/A N/A N/A N/A N/A 0.654±0.00 N/A N/A 2.849±0.21 0.433±0.08 0.078±0.02
ENSMUST00000114154 N/A N/A N/A 1.081±0.20 N/A N/A N/A N/A N/A N/A N/A N/A 0.134±0.00 N/A
ENSMUST00000133376 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.072±0.00
ENSMUST00000146568 N/A N/A N/A N/A 3.976±0.22 N/A N/A N/A 0.790±0.25 N/A 2.561±0.00 7.413±0.00 0.336±0.00 N/A
ENSMUST00000149890 N/A N/A N/A 1.954±0.00 N/A N/A N/A N/A N/A N/A N/A 9.388±0.00 0.176±0.00 N/A

Conserved Regions

Gene is not located within a conserved region.

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

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000072840 EVC Ellis van Creveld syndrome protein_coding Homo_sapiens

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