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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: microcephalin 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000147316 MCPH1 9606 + 8:6406592-6643623 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000344683 MCPH1-001 6406592-6643623 protein_coding
  ENST00000519221 MCPH1-007 6477266-6621671 processed_transcript
  ENST00000519480 MCPH1-002 6406596-6446567 protein_coding
  ENST00000521129 MCPH1-004 6477359-6621621 processed_transcript
  ENST00000521175 MCPH1-005 6621452-6643370 processed_transcript
  ENST00000522020 MCPH1-006 6455202-6494542 processed_transcript
  ENST00000522905 MCPH1-003 6406643-6445890 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000344683ENST00000519480ENST00000522905
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000344683 2.835±0.00 3.677±0.00 0.522±0.00 1.334±0.65 1.070±0.00 1.281±0.00 2.111±0.00 2.009±0.00 0.997±0.00 1.742±0.00 4.341±0.00 1.666±0.28 2.034±0.35 4.123±0.43
ENST00000519480 N/A N/A N/A 0.711±0.00 1.197±0.00 1.021±0.00 0.824±0.00 1.175±0.38 0.998±0.37 N/A N/A 1.683±0.23 1.647±0.00 N/A
ENST00000522905 N/A N/A 0.749±0.00 N/A N/A N/A N/A N/A N/A N/A 0.409±0.00 N/A N/A 3.106±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000LC CIL_0000LC_0001 CGP 8:2935353-6643623
CIL_0008KU CIL_0008KU_0001 VISTA 8:6228238-6829442
CIL_00006Z CIL_00006Z_0002 CGP 8:6406592-6643623

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000132 IEA establishment of mitotic spindle orientation
GO:0000278 TAS mitotic cell cycle
GO:0005515 IPI protein binding
GO:0005654 TAS nucleoplasm
GO:0005737 IEA cytoplasm
GO:0005856 IEA cytoskeleton
GO:0010468 IEA regulation of gene expression
GO:0021987 IEA cerebral cortex development
GO:0042802 IPI identical protein binding
GO:0043549 IEA regulation of kinase activity
GO:0046605 IEA regulation of centrosome cycle
GO:0050727 IEA regulation of inflammatory response
GO:0060348 IEA bone development
GO:0060623 IEA regulation of chromosome condensation
GO:0071539 IEA protein localization to centrosome
GO:0097150 IEA neuronal stem cell maintenance

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000058372 mcph1 microcephalin 1 protein_coding Danio_rerio
ENSMUSG00000039842 Mcph1 microcephaly, primary autosomal recessive 1 protein_coding Mus_musculus

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