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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Ellis van Creveld syndrome
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000264956 EVC-001 ENSG00000072840 9606 + 4:5711197-5814305 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000264956
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

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 Biotype Species E-Value Bit Score
ENSMUST00000031005 Evc-001 protein_coding Mus_musculus 0 1552
ENSMUST00000114154 Evc-002 protein_coding Mus_musculus 0 1506
ENSMUST00000114148 Evc-005 protein_coding Mus_musculus 0 1002
ENSMUST00000133376 Evc-003 retained_intron Mus_musculus 0 571
ENSMUST00000124426 Evc-006 retained_intron Mus_musculus 4e-29 135
ENSMUST00000154885 Evc-007 processed_transcript Mus_musculus 1e-28 134
ENSMUST00000146544 Golga2-011 processed_transcript Mus_musculus 0.0004 53

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