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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: polycystic kidney disease 1 (autosomal dominant)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000423118 PKD1-002 ENSG00000008710 9606 - 16:2088710-2135898 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLungMusclePlacentaENST00000423118
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Lung Muscle Placenta
ENST00000423118 2.064±0.00 5.461±0.00 4.664±0.00 3.715±0.00 3.443±0.00 2.862±0.00 0.693±0.00 0.516±0.00 5.898±3.66 2.148±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00029D CIL_00029D_0002 CGP 16:2047465-2135898

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001701 ISS in utero embryonic development
GO:0001822 ISS kidney development
GO:0001892 ISS embryonic placenta development
GO:0002133 ISS polycystin complex
GO:0005261 ISS cation channel activity
GO:0005262 IBA calcium channel activity
GO:0005515 IPI:IEA protein binding
GO:0005634 ISS nucleus
GO:0005737 ISS cytoplasm
GO:0005886 IDA plasma membrane
GO:0005887 TAS integral component of plasma membrane
GO:0005929 ISS cilium
GO:0006611 ISS protein export from nucleus
GO:0007050 ISS cell cycle arrest
GO:0007156 TAS homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007160 TAS cell-matrix adhesion
GO:0007161 TAS calcium-independent cell-matrix adhesion
GO:0007218 IEA neuropeptide signaling pathway
GO:0007259 ISS JAK-STAT cascade
GO:0007507 IEP heart development
GO:0009653 TAS anatomical structure morphogenesis
GO:0016020 IEA membrane
GO:0016021 NAS integral component of membrane
GO:0016323 IDA basolateral plasma membrane
GO:0018105 ISS peptidyl-serine phosphorylation
GO:0019901 IPI protein kinase binding
GO:0019904 IPI protein domain specific binding
GO:0021510 IEP spinal cord development
GO:0021915 IEP neural tube development
GO:0030246 IEA carbohydrate binding
GO:0031512 ISS motile primary cilium
GO:0031659 IDA positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
GO:0032092 ISS positive regulation of protein binding
GO:0042994 ISS cytoplasmic sequestering of transcription factor
GO:0043588 IEP skin development
GO:0044325 IPI ion channel binding
GO:0045944 IDA positive regulation of transcription from RNA polymerase II promoter
GO:0048565 IEP digestive tract development
GO:0048754 IDA branching morphogenesis of an epithelial tube
GO:0048806 IEP genitalia development
GO:0050982 ISS detection of mechanical stimulus
GO:0051216 IEP cartilage development
GO:0060428 IEP lung epithelium development
GO:0060674 ISS placenta blood vessel development
GO:0061136 IDA regulation of proteasomal protein catabolic process
GO:0070062 IDA extracellular vesicular exosome
GO:0070588 IBA calcium ion transmembrane transport
GO:0072164 IEP mesonephric tubule development
GO:0072177 IEP mesonephric duct development
GO:0072205 IEP metanephric collecting duct development
GO:0072218 IEP metanephric ascending thin limb development
GO:0072237 IEP metanephric proximal tubule development
GO:0072287 IEP metanephric distal tubule morphogenesis
GO:0098655 ISS cation transmembrane transport

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000035565 Pkd1-201 protein_coding Mus_musculus 0 8772

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