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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: tuberous sclerosis 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000026812 Tsc1 10090 + 2:28641228-28691167 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000028155 Tsc1-002 28641237-28691167 protein_coding
  ENSMUST00000113867 Tsc1-007 28641243-28691167 protein_coding
  ENSMUST00000113869 Tsc1-001 28641241-28691167 protein_coding
  ENSMUST00000113870 Tsc1-201 28658567-28691167 protein_coding
  ENSMUST00000124507 Tsc1-008 28641254-28667959 retained_intron
  ENSMUST00000125715 Tsc1-010 28671015-28673187 retained_intron
  ENSMUST00000133565 Tsc1-004 28641241-28688548 nonsense_mediated_decay
  ENSMUST00000139642 Tsc1-005 28672278-28673329 retained_intron
  ENSMUST00000150274 Tsc1-009 28663392-28665965 retained_intron
  ENSMUST00000153625 Tsc1-006 28641250-28673753 retained_intron
  ENSMUST00000156857 Tsc1-003 28641228-28672507 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000028155ENSMUST00000113867ENSMUST00000113869ENSMUST00000113870ENSMUST00000133565ENSMUST00000156857
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000028155 1.435±0.71 1.581±0.42 2.040±0.14 4.997±0.19 3.773±1.28 3.501±1.27 2.412±0.56 3.561±0.79 2.736±0.90 2.609±0.00 2.373±0.86 4.479±1.42 2.932±0.82 3.122±1.24
ENSMUST00000113867 N/A 1.716±0.34 1.259±0.10 5.028±0.06 2.301±0.62 1.159±0.30 1.515±0.75 1.607±0.49 1.077±0.40 1.347±0.15 4.197±0.78 2.432±1.20 1.913±0.99 1.024±0.00
ENSMUST00000113869 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.917±0.00 N/A N/A
ENSMUST00000113870 1.019±0.00 2.473±1.37 N/A 1.708±0.32 2.262±1.32 1.953±0.06 N/A 2.357±1.20 1.146±0.38 1.741±0.81 1.212±0.00 4.458±0.00 2.562±0.49 N/A
ENSMUST00000133565 N/A N/A N/A 7.317±0.00 N/A N/A N/A N/A N/A N/A N/A 1.771±0.00 3.350±1.54 3.741±0.22
ENSMUST00000156857 N/A N/A N/A N/A 8.514±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000H4 CIL_0000H4_0002 CGP 2:28609450-28691167
CIL_0002XC CIL_0002XC_0002 CGP 2:28641228-28699727

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001822 IMP kidney development
GO:0001843 IMP neural tube closure
GO:0001952 IEA regulation of cell-matrix adhesion
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005829 IEA cytosol
GO:0005856 IEA cytoskeleton
GO:0005884 IEA actin filament
GO:0005938 IEA cell cortex
GO:0006407 IEA rRNA export from nucleus
GO:0006417 IEA regulation of translation
GO:0006813 IGI potassium ion transport
GO:0007160 IEA cell-matrix adhesion
GO:0007399 IMP nervous system development
GO:0008285 IMP negative regulation of cell proliferation
GO:0016020 IEA membrane
GO:0017148 IEA negative regulation of translation
GO:0021766 IMP hippocampus development
GO:0021987 IMP cerebral cortex development
GO:0030027 IEA lamellipodium
GO:0030030 IMP cell projection organization
GO:0030426 IEA growth cone
GO:0030695 IBA GTPase regulator activity
GO:0032007 IBA negative regulation of TOR signaling
GO:0032318 IBA regulation of Ras GTPase activity
GO:0032794 IEA GTPase activating protein binding
GO:0032862 IEA activation of Rho GTPase activity
GO:0032868 IEA response to insulin
GO:0032956 IBA regulation of actin cytoskeleton organization
GO:0033596 IBA TSC1-TSC2 complex
GO:0042552 IMP myelination
GO:0043231 IEA intracellular membrane-bounded organelle
GO:0043234 IEA protein complex
GO:0043666 IEA regulation of phosphoprotein phosphatase activity
GO:0045792 IGI negative regulation of cell size
GO:0045859 IGI regulation of protein kinase activity
GO:0046323 IMP glucose import
GO:0046627 IBA negative regulation of insulin receptor signaling pathway
GO:0047485 IPI protein N-terminus binding
GO:0050808 IMP synapse organization
GO:0050821 IEA protein stabilization
GO:0051087 IEA chaperone binding
GO:0051291 IEA protein heterooligomerization
GO:0051492 IEA regulation of stress fiber assembly
GO:0051726 IBA regulation of cell cycle
GO:0051893 IEA regulation of focal adhesion assembly
GO:0051894 IEA positive regulation of focal adhesion assembly
GO:0055007 IMP cardiac muscle cell differentiation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000026048 tsc1a tuberous sclerosis 1a protein_coding Danio_rerio
ENSDARG00000057918 tsc1b tuberous sclerosis 1b protein_coding Danio_rerio
ENSG00000165699 TSC1 tuberous sclerosis 1 protein_coding Homo_sapiens

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