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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Meckel syndrome, type 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000011143 MKS1 9606 - 17:58205437-58219605 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000313863 MKS1-002 58205453-58219232 protein_coding
  ENST00000393119 MKS1-003 58205437-58219305 protein_coding
  ENST00000393120 MKS1-004 58205741-58219236 nonsense_mediated_decay
  ENST00000537529 MKS1-001 58205740-58219605 protein_coding
  ENST00000577315 MKS1-011 58207561-58210990 protein_coding
  ENST00000577824 MKS1-012 58207562-58214379 protein_coding
  ENST00000578789 MKS1-005 58213859-58219253 nonsense_mediated_decay
  ENST00000579358 MKS1-009 58208141-58211120 retained_intron
  ENST00000580127 MKS1-008 58213806-58219305 nonsense_mediated_decay
  ENST00000581180 MKS1-006 58215606-58219230 retained_intron
  ENST00000581761 MKS1-007 58210659-58219245 nonsense_mediated_decay
  ENST00000583577 MKS1-013 58205888-58206780 retained_intron
  ENST00000585134 MKS1-010 58207566-58213062 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000313863ENST00000393119ENST00000393120ENST00000537529ENST00000577315ENST00000577824ENST00000578789ENST00000579358ENST00000580127ENST00000581180ENST00000581761ENST00000583577ENST00000585134
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000313863 0.887±0.00 N/A 0.517±0.00 0.997±0.00 1.852±0.00 0.942±0.00 0.114±0.00 0.693±0.00 1.316±0.00 2.133±0.00 0.837±0.00 2.776±0.00 N/A 2.629±0.00
ENST00000393119 N/A 3.247±0.00 0.274±0.00 1.191±0.00 N/A 0.399±0.00 1.231±0.00 0.815±0.00 N/A N/A N/A 3.249±2.03 2.496±1.00 4.246±0.00
ENST00000393120 0.702±0.00 N/A N/A 0.982±0.00 N/A 0.539±0.10 N/A N/A N/A N/A 0.228±0.00 N/A N/A N/A
ENST00000537529 N/A N/A N/A N/A 1.271±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000577315 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.282±1.62 N/A N/A N/A
ENST00000577824 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.796±0.00 N/A
ENST00000578789 N/A N/A N/A N/A N/A N/A 0.662±0.00 N/A N/A N/A N/A N/A N/A 4.698±0.00
ENST00000579358 N/A N/A N/A N/A N/A 1.325±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000580127 N/A N/A N/A 1.743±0.00 N/A N/A 0.325±0.00 0.640±0.00 N/A N/A N/A N/A N/A N/A
ENST00000581180 N/A N/A N/A N/A 1.602±0.00 1.186±0.00 N/A N/A 1.311±0.00 2.236±0.00 N/A 1.904±0.00 N/A N/A
ENST00000581761 N/A N/A N/A N/A N/A 0.993±0.00 0.323±0.00 0.821±0.00 N/A 1.590±0.00 N/A 5.516±0.00 2.668±0.00 9.192±0.00
ENST00000583577 N/A N/A N/A N/A N/A N/A N/A 0.317±0.00 N/A N/A N/A N/A N/A N/A
ENST00000585134 1.053±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005813 IDA centrosome
GO:0005814 IEA centriole
GO:0016020 IEA membrane
GO:0035869 IEA ciliary transition zone
GO:0036038 ISS TCTN-B9D complex
GO:0036064 IDA ciliary basal body
GO:0042384 IMP cilium assembly
GO:0048754 IEA branching morphogenesis of an epithelial tube
GO:0060271 ISS cilium morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000059657 mks1 Meckel syndrome, type 1 protein_coding Danio_rerio
ENSMUSG00000034121 Mks1 Meckel syndrome, type 1 protein_coding Mus_musculus

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