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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: microcephaly, primary autosomal recessive 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000039842 Mcph1 10090 + 8:18595131-18803189 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000039412 Mcph1-001 18595131-18803189 protein_coding
  ENSMUST00000124910 Mcph1-002 18595164-18712939 nonsense_mediated_decay
  ENSMUST00000133417 Mcph1-005 18625563-18631880 protein_coding
  ENSMUST00000141244 Mcph1-006 18632592-18652990 protein_coding
  ENSMUST00000146819 Mcph1-004 18595582-18632901 protein_coding
  ENSMUST00000153133 Mcph1-003 18595576-18689953 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000039412ENSMUST00000124910ENSMUST00000146819ENSMUST00000153133
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000039412 2.559±0.53 0.885±0.11 1.079±0.12 1.790±0.21 1.203±0.56 0.729±0.10 0.695±0.10 0.676±0.21 2.410±2.20 0.963±0.07 0.692±0.19 2.526±0.86 2.742±1.88 1.452±0.55
ENSMUST00000124910 N/A N/A N/A N/A 0.320±0.07 0.127±0.03 N/A 0.094±0.00 N/A N/A N/A 0.641±0.19 N/A 0.492±0.06
ENSMUST00000146819 N/A N/A N/A 0.746±0.00 N/A N/A N/A N/A N/A N/A 0.220±0.00 N/A 1.502±0.75 N/A
ENSMUST00000153133 N/A N/A N/A N/A N/A N/A N/A 0.306±0.10 N/A N/A N/A N/A 0.311±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000LC CIL_0000LC_0002 CGP 8:15892537-18803189
CIL_0008KU CIL_0008KU_0002 VISTA 8:18411246-19012747
CIL_00006Z CIL_00006Z_0003 CGP 8:18595131-18803189

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000132 IMP establishment of mitotic spindle orientation
GO:0005737 IEA cytoplasm
GO:0005856 IEA cytoskeleton
GO:0010468 IGI regulation of gene expression
GO:0021987 IMP cerebral cortex development
GO:0043549 IMP regulation of kinase activity
GO:0046605 IMP regulation of centrosome cycle
GO:0050727 IMP regulation of inflammatory response
GO:0060348 IMP bone development
GO:0060623 IMP regulation of chromosome condensation
GO:0071539 IMP protein localization to centrosome
GO:0097150 IMP neuronal stem cell maintenance

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000058372 mcph1 microcephalin 1 protein_coding Danio_rerio
ENSG00000147316 MCPH1 microcephalin 1 protein_coding Homo_sapiens

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