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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: dyskeratosis congenita 1, dyskerin
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000130826 DKC1 9606 + X:154762742-154777689 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000369550 DKC1-001 154762756-154777689 protein_coding
  ENST00000412124 DKC1-011 154767016-154776260 nonsense_mediated_decay
  ENST00000413910 DKC1-008 154762891-154769291 protein_coding
  ENST00000426673 DKC1-005 154768302-154776272 nonsense_mediated_decay
  ENST00000437719 DKC1-010 154764927-154768358 protein_coding
  ENST00000452771 DKC1-012 154764925-154769210 nonsense_mediated_decay
  ENST00000473552 DKC1-009 154762913-154766555 processed_transcript
  ENST00000475423 DKC1-007 154762852-154765355 retained_intron
  ENST00000475966 DKC1-003 154768543-154776261 processed_transcript
  ENST00000481062 DKC1-004 154773144-154775314 retained_intron
  ENST00000484317 DKC1-002 154768024-154770876 retained_intron
  ENST00000492372 DKC1-006 154775119-154776911 processed_transcript
  ENST00000620277 DKC1-201 154762742-154777688 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000369550ENST00000412124ENST00000426673ENST00000437719ENST00000452771ENST00000473552ENST00000475423ENST00000475966ENST00000492372ENST00000620277
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000369550 10.917±0.00 20.100±0.00 N/A 7.631±0.00 5.274±3.32 5.393±3.74 3.235±2.51 7.057±6.01 4.713±2.77 6.336±0.00 8.318±0.00 17.820±8.65 13.558±2.66 18.185±2.69
ENST00000412124 N/A N/A 3.213±0.00 2.036±0.00 5.659±0.00 5.214±0.00 0.800±0.00 3.114±0.00 N/A 2.051±0.00 N/A 8.015±0.00 N/A N/A
ENST00000426673 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.462±0.00 N/A N/A N/A
ENST00000437719 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.597±0.00 9.600±0.00 N/A N/A
ENST00000452771 N/A N/A N/A N/A N/A N/A N/A 2.039±0.00 N/A N/A N/A N/A N/A N/A
ENST00000473552 N/A N/A 1.829±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000475423 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.757±0.00 N/A N/A N/A N/A
ENST00000475966 N/A N/A N/A N/A N/A N/A N/A N/A 2.014±0.00 N/A N/A N/A N/A N/A
ENST00000492372 N/A N/A 2.007±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 24.820±0.00 13.478±0.00 14.768±0.00
ENST00000620277 N/A N/A N/A N/A 0.568±0.00 1.347±0.00 N/A N/A N/A N/A N/A 4.636±2.61 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0003LH CIL_0003LH_0001 CGP X:154675249-154777689
CIL_0003LI CIL_0003LI_0001 CGP X:154762742-154821007

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000723 TAS telomere maintenance
GO:0001522 IEA pseudouridine synthesis
GO:0003720 IDA telomerase activity
GO:0003723 TAS:IEA RNA binding
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005654 TAS nucleoplasm
GO:0005697 IDA telomerase holoenzyme complex
GO:0005730 IDA nucleolus
GO:0005737 IEA cytoplasm
GO:0006364 IEA rRNA processing
GO:0006396 TAS:IEA RNA processing
GO:0007004 TAS telomere maintenance via telomerase
GO:0008283 TAS cell proliferation
GO:0009451 IEA RNA modification
GO:0009982 IEA pseudouridine synthase activity
GO:0044822 IDA poly(A) RNA binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000016484 dkc1 dyskeratosis congenita 1, dyskerin protein_coding Danio_rerio
ENSMUSG00000031403 Dkc1 dyskeratosis congenita 1, dyskerin protein_coding Mus_musculus

Loading