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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: polycystic kidney disease 1 (autosomal dominant)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000008710 PKD1 9606 - 16:2088710-2135898 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000262304 PKD1-001 2088710-2135898 protein_coding
  ENST00000415938 PKD1-043 2097728-2112963 retained_intron
  ENST00000423118 PKD1-002 2088710-2135898 protein_coding
  ENST00000468674 PKD1-012 2109291-2113280 processed_transcript
  ENST00000469241 PKD1-014 2111458-2112898 retained_intron
  ENST00000469851 PKD1-021 2099932-2100686 retained_intron
  ENST00000471603 PKD1-009 2098833-2103687 retained_intron
  ENST00000472577 PKD1-023 2089527-2090839 retained_intron
  ENST00000472659 PKD1-024 2092886-2094146 retained_intron
  ENST00000473780 PKD1-016 2107585-2108548 processed_transcript
  ENST00000474088 PKD1-019 2101951-2103177 retained_intron
  ENST00000475889 PKD1-018 2102380-2103531 processed_transcript
  ENST00000480227 PKD1-008 2099078-2103793 retained_intron
  ENST00000483024 PKD1-015 2106590-2112830 protein_coding
  ENST00000483558 PKD1-017 2106276-2107756 processed_transcript
  ENST00000483731 PKD1-010 2097728-2114124 retained_intron
  ENST00000483814 PKD1-020 2100023-2100765 retained_intron
  ENST00000485120 PKD1-022 2091428-2092597 retained_intron
  ENST00000486339 PKD1-005 2097728-2107759 retained_intron
  ENST00000487932 PKD1-007 2090985-2109853 nonsense_mediated_decay
  ENST00000488185 PKD1-011 2106941-2118078 protein_coding
  ENST00000496574 PKD1-004 2097852-2108016 retained_intron
  ENST00000561668 PKD1-040 2090883-2092170 nonsense_mediated_decay
  ENST00000561991 PKD1-027 2103517-2106408 processed_transcript
  ENST00000562297 PKD1-029 2097728-2103789 retained_intron
  ENST00000562425 PKD1-037 2091823-2093884 nonsense_mediated_decay
  ENST00000564313 PKD1-041 2090765-2092013 retained_intron
  ENST00000564865 PKD1-033 2105357-2106104 processed_transcript
  ENST00000564890 PKD1-032 2105378-2106407 retained_intron
  ENST00000565639 PKD1-044 2103789-2114481 retained_intron
  ENST00000566784 PKD1-042 2097859-2099893 processed_transcript
  ENST00000566905 PKD1-034 2097752-2100453 processed_transcript
  ENST00000567355 PKD1-039 2092046-2092911 retained_intron
  ENST00000567946 PKD1-028 2097728-2105398 protein_coding
  ENST00000568591 PKD1-025 2106503-2117959 nonsense_mediated_decay
  ENST00000568796 PKD1-038 2093355-2093873 retained_intron
  ENST00000569983 PKD1-031 2106521-2113074 retained_intron
  ENST00000570150 PKD1-030 2116592-2118124 processed_transcript
  ENST00000570193 PKD1-035 2099462-2100407 processed_transcript
  ENST00000570253 PKD1-036 2097728-2100300 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaENST00000262304ENST00000423118
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta
ENST00000262304 2.125±0.00 4.755±0.00 1.047±0.00 3.674±1.33 2.768±1.24 1.477±0.00 1.687±1.02 N/A 1.478±0.00 N/A 1.594±0.00 9.236±7.88 2.614±0.39
ENST00000423118 2.064±0.00 5.461±0.00 N/A 4.664±0.00 3.715±0.00 3.443±0.00 2.862±0.00 0.693±0.00 N/A 0.516±0.00 5.898±3.66 N/A 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:0001502 IEA cartilage condensation
GO:0001568 IEA blood vessel development
GO:0001701 ISS in utero embryonic development
GO:0001822 ISS kidney development
GO:0001889 IEA liver 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:0005794 IEA Golgi apparatus
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:0006807 IEA nitrogen compound metabolic process
GO:0006816 IEA calcium ion transport
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:0007204 IEA positive regulation of cytosolic calcium ion concentration
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:0016328 IEA lateral plasma membrane
GO:0016337 IEA single organismal cell-cell adhesion
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:0034405 IEA response to fluid shear stress
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:0060236 IEA regulation of mitotic spindle organization
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:0072001 IEA renal system development
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 Description Biotype Species
ENSDARG00000030417 PKD1 polycystic kidney disease 1 (autosomal dominant) protein_coding Danio_rerio
ENSMUSG00000032855 Pkd1 polycystic kidney disease 1 homolog protein_coding Mus_musculus

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