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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Williams-Beuren syndrome chromosome region 17
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000185274 WBSCR17 9606 + 7:71132169-71713600 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000333538 WBSCR17-001 71132169-71713599 protein_coding
  ENST00000447516 WBSCR17-004 71300331-71415931 protein_coding
  ENST00000467723 WBSCR17-002 71300742-71713598 processed_transcript
  ENST00000498380 WBSCR17-003 71283996-71713600 processed_transcript
  ENST00000618959 WBSCR17-201 71335549-71713598 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000333538ENST00000498380ENST00000618959
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000333538 2.016±0.00 0.357±0.00 0.333±0.00 10.724±6.63 0.777±0.37 3.899±3.72 11.430±10.71 1.677±0.00 2.410±0.00 2.501±1.81 0.810±0.00 4.659±3.53 0.676±0.51 3.939±0.72
ENST00000498380 N/A 0.171±0.00 N/A N/A 0.167±0.00 N/A 0.560±0.00 N/A N/A N/A N/A N/A N/A 0.393±0.00
ENST00000618959 N/A 0.530±0.00 N/A 11.480±6.71 0.091±0.00 0.624±0.51 3.116±2.40 N/A 1.213±1.16 0.464±0.00 0.501±0.00 5.111±3.08 0.452±0.10 4.292±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00072U CIL_00072U_0002 CGP 7:71132169-72447151

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004653 IEA polypeptide N-acetylgalactosaminyltransferase activity
GO:0005794 IEA Golgi apparatus
GO:0006486 IEA protein glycosylation
GO:0008152 IEA metabolic process
GO:0016021 IEA integral component of membrane
GO:0016757 IEA transferase activity, transferring glycosyl groups
GO:0030246 IEA carbohydrate binding
GO:0046872 IEA metal ion binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000042418 wbscr17 Williams-Beuren syndrome chromosome region 17 protein_coding Danio_rerio
ENSMUSG00000034040 Wbscr17 Williams-Beuren syndrome chromosome region 17 homolog (human) protein_coding Mus_musculus

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