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) cblB type
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000139428 MMAB 9606 - 12:109553737-109573874 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000420167 MMAB-007 109561780-109573497 nonsense_mediated_decay
  ENST00000503497 MMAB-008 109561836-109573504 nonsense_mediated_decay
  ENST00000536760 MMAB-009 109564820-109573483 retained_intron
  ENST00000537236 MMAB-006 109567818-109573580 protein_coding
  ENST00000537496 MMAB-004 109556703-109573503 nonsense_mediated_decay
  ENST00000540016 MMAB-003 109556697-109573497 protein_coding
  ENST00000541763 MMAB-005 109556754-109573480 nonsense_mediated_decay
  ENST00000542390 MMAB-010 109561684-109573507 retained_intron
  ENST00000544051 MMAB-002 109556751-109573514 nonsense_mediated_decay
  ENST00000545712 MMAB-001 109553737-109573874 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000503497ENST00000536760ENST00000537496ENST00000540016ENST00000545712
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000503497 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.246±0.00 N/A N/A N/A
ENST00000536760 N/A N/A N/A N/A N/A 2.753±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000537496 6.777±0.00 6.698±0.00 N/A 4.975±3.83 12.663±0.00 4.832±0.00 11.733±0.00 13.869±0.00 26.976±0.00 4.260±3.44 5.878±0.00 8.458±5.42 7.867±4.00 9.389±0.00
ENST00000540016 12.408±0.00 14.827±0.00 1.971±0.00 9.655±7.49 15.436±13.55 5.437±3.10 5.543±3.59 15.641±2.07 18.289±16.74 6.845±0.00 3.692±1.99 13.959±9.30 6.423±1.09 13.653±0.00
ENST00000545712 N/A N/A 0.158±0.00 1.547±1.18 N/A 0.538±0.12 0.210±0.00 2.309±0.00 0.114±0.00 N/A N/A 2.316±1.12 0.648±0.00 1.818±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000401 CIL_000401_0001 CGP 12:109477402-109573874
CIL_0001GN CIL_0001GN_0002 CGP 12:109553737-109598117

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005524 IEA ATP binding
GO:0005739 IEA mitochondrion
GO:0005759 TAS mitochondrial matrix
GO:0006766 TAS vitamin metabolic process
GO:0006767 TAS water-soluble vitamin metabolic process
GO:0008817 TAS cob(I)yrinic acid a,c-diamide adenosyltransferase activity
GO:0009235 TAS cobalamin metabolic process
GO:0009236 IEA cobalamin biosynthetic process
GO:0044281 TAS small molecule metabolic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000068344 mmab methylmalonic aciduria (cobalamin deficiency) cblB type protein_coding Danio_rerio
ENSMUSG00000029575 Mmab methylmalonic aciduria (cobalamin deficiency) type B homolog (human) protein_coding Mus_musculus

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