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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: centrosomal protein 290kDa
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000198707 CEP290 9606 - 12:88049014-88142216 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000309041 CEP290-201 88049014-88141307 protein_coding
  ENST00000397838 CEP290-202 88109132-88141307 protein_coding
  ENST00000547691 CEP290-005 88049016-88104188 protein_coding
  ENST00000547926 CEP290-004 88111202-88141033 nonsense_mediated_decay
  ENST00000550962 CEP290-006 88130391-88142077 protein_coding
  ENST00000552770 CEP290-007 88135658-88140994 protein_coding
  ENST00000552810 CEP290-001 88049020-88142216 protein_coding
  ENST00000604024 CEP290-003 88093597-88129711 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartLiverLungMuscleOvaryPlacentaTestisENST00000309041ENST00000547691ENST00000552810
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Liver Lung Muscle Ovary Placenta Testis
ENST00000309041 0.662±0.00 N/A N/A N/A 0.437±0.00 N/A 0.233±0.00 0.189±0.00 0.334±0.00 0.213±0.00 0.758±0.00 0.187±0.00 N/A
ENST00000547691 N/A N/A 0.585±0.00 0.583±0.00 0.567±0.00 1.000±0.11 N/A 0.744±0.00 0.632±0.00 0.109±0.00 0.757±0.07 0.226±0.02 1.104±0.00
ENST00000552810 N/A 0.634±0.00 0.809±0.00 1.182±0.16 1.234±0.00 N/A 0.631±0.20 0.767±0.00 N/A N/A 1.028±0.43 1.500±0.00 2.049±1.16

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000215 CIL_000215_0002 CGP 12:88033846-88142216
CIL_000212 CIL_000212_0002 CGP 12:88049014-88199887

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000086 TAS G2/M transition of mitotic cell cycle
GO:0000278 TAS mitotic cell cycle
GO:0000930 IDA gamma-tubulin complex
GO:0005515 IPI protein binding
GO:0005634 IEA nucleus
GO:0005737 IDA cytoplasm
GO:0005813 IEA centrosome
GO:0005829 IDA cytosol
GO:0007163 IEA establishment or maintenance of cell polarity
GO:0015031 ISS protein transport
GO:0016020 IDA membrane
GO:0030814 IEA regulation of cAMP metabolic process
GO:0030902 ISS hindbrain development
GO:0030916 ISS otic vesicle formation
GO:0032391 ISS photoreceptor connecting cilium
GO:0034451 IDA centriolar satellite
GO:0036038 ISS TCTN-B9D complex
GO:0036064 IEA ciliary basal body
GO:0042384 ISS cilium assembly
GO:0042462 ISS eye photoreceptor cell development
GO:0043234 IDA protein complex
GO:0045893 IDA positive regulation of transcription, DNA-templated
GO:0048793 ISS pronephros development
GO:0060041 IEA retina development in camera-type eye
GO:0060271 IEA cilium morphogenesis
GO:0070201 IMP regulation of establishment of protein localization
GO:0090316 IMP positive regulation of intracellular protein transport

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000062727 cep290 centrosomal protein 290 protein_coding Danio_rerio
ENSMUSG00000019971 Cep290 centrosomal protein 290 protein_coding Mus_musculus

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