ANGIOGENES: A knowledge database for angiogenesis

Institute of Cardiovascular Regeneration, Goethe University Frankfurt

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'; BECsHAoECHHSECHMVEC-DHUVECENST00000313863ENST00000393119ENST00000393120ENST00000577315ENST00000578789ENST00000580127ENST00000581180ENST00000581761ENST00000583577ENST00000585134
Transcript ID BECs HAoEC HHSEC HMVEC-D HUVEC
ENST00000313863 N/A 2.273±0.94 N/A N/A 1.565±0.03
ENST00000393119 1.497±0.00 2.076±1.08 N/A 1.914±0.00 1.900±1.32
ENST00000393120 N/A N/A N/A 2.516±0.00 1.040±0.62
ENST00000577315 N/A 6.783±0.00 N/A N/A 3.603±0.00
ENST00000578789 N/A 7.373±0.00 N/A N/A 1.077±0.00
ENST00000580127 N/A N/A N/A N/A 1.609±0.44
ENST00000581180 N/A N/A N/A N/A 0.068±0.00
ENST00000581761 N/A 2.929±0.36 N/A N/A 2.141±1.30
ENST00000583577 1.584±0.00 N/A 4.897±0.00 N/A N/A
ENST00000585134 1.653±0.00 2.478±0.22 N/A N/A 1.013±0.57

Conserved Regions

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 protein_coding Danio_rerio
ENSMUSG00000034121 Mks1 protein_coding Mus_musculus

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