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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000043877 mmachc 7955 + 20:1408983-1416329 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000145981 mmachc-001 1408983-1416329 protein_coding
  ENSDART00000152709 mmachc-002 1409058-1415964 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000145981ENSDART00000152709
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000145981 1.023±0.55 0.408±0.10 1.277±0.00 1.515±0.00 0.550±0.00
ENSDART00000152709 N/A 0.832±0.42 0.251±0.00 N/A 0.091±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
No GO terms available.

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000132763 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria protein_coding Homo_sapiens
ENSMUSG00000028690 Mmachc methylmalonic aciduria cblC type, with homocystinuria protein_coding Mus_musculus

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