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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: McKusick-Kaufman syndrome
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000125863 MKKS 9606 - 20:10401009-10434222 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000347364 MKKS-001 10401009-10434222 protein_coding
  ENST00000399054 MKKS-002 10405184-10431922 protein_coding
  ENST00000609375 MKKS-003 10413520-10431922 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000347364ENST00000399054ENST00000609375
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000347364 0.269±0.00 0.279±0.00 0.474±0.00 1.226±0.51 0.291±0.01 0.208±0.00 0.127±0.00 0.550±0.00 0.439±0.00 N/A 0.127±0.00 0.490±0.07 0.486±0.00 0.497±0.00
ENST00000399054 3.454±0.00 4.446±0.00 1.477±0.00 6.834±4.04 3.319±3.03 8.302±0.00 5.087±4.70 9.368±8.11 3.947±2.08 2.444±1.46 2.590±1.13 5.100±2.74 5.543±0.69 14.094±1.91
ENST00000609375 4.069±0.00 3.050±0.00 N/A N/A 2.244±1.49 N/A 5.363±0.00 4.489±0.00 N/A N/A 0.821±0.00 4.938±1.61 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00043K CIL_00043K_0001 CGP 20:10218830-10434222
CIL_000360 CIL_000360_0001 CGP 20:10401009-10636829

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IPI RNA polymerase II repressing transcription factor binding
GO:0001947 ISS heart looping
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005622 IDA intracellular
GO:0005737 IEA cytoplasm
GO:0005813 IDA centrosome
GO:0006457 IEA protein folding
GO:0007286 ISS spermatid development
GO:0007368 ISS determination of left/right symmetry
GO:0007507 TAS heart development
GO:0007601 IEA visual perception
GO:0007608 ISS sensory perception of smell
GO:0008406 TAS gonad development
GO:0010629 IEA negative regulation of gene expression
GO:0014824 IEA artery smooth muscle contraction
GO:0021756 ISS striatum development
GO:0021766 ISS hippocampus development
GO:0021987 ISS cerebral cortex development
GO:0031514 ISS motile cilium
GO:0032402 ISS melanosome transport
GO:0033210 IEA leptin-mediated signaling pathway
GO:0035058 IEA nonmotile primary cilium assembly
GO:0035176 ISS social behavior
GO:0038108 ISS negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018 IEA positive regulation of multicellular organism growth
GO:0042311 IEA vasodilation
GO:0042384 ISS cilium assembly
GO:0044267 IEA cellular protein metabolic process
GO:0044321 IEA response to leptin
GO:0045444 ISS fat cell differentiation
GO:0045494 ISS photoreceptor cell maintenance
GO:0045776 IEA negative regulation of blood pressure
GO:0046907 ISS intracellular transport
GO:0048854 ISS brain morphogenesis
GO:0050910 ISS detection of mechanical stimulus involved in sensory perception of sound
GO:0051082 IEA unfolded protein binding
GO:0051131 IEA chaperone-mediated protein complex assembly
GO:0051216 IEA cartilage development
GO:0051877 ISS pigment granule aggregation in cell center
GO:0060027 ISS convergent extension involved in gastrulation
GO:0060271 ISS cilium morphogenesis
GO:0060296 ISS regulation of cilium beat frequency involved in ciliary motility

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000016139 mkks McKusick-Kaufman syndrome protein_coding Danio_rerio
ENSMUSG00000027274 Mkks McKusick-Kaufman syndrome protein_coding Mus_musculus

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