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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info

Description: methylmalonic aciduria (cobalamin deficiency) cblB type
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000545712 MMAB-001 ENSG00000139428 9606 - 12:109553737-109573874 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BladderBrainColonHeartKidneyLiverOvaryPlacentaTestisENST00000545712
Transcript ID Bladder Brain Colon Heart Kidney Liver Ovary Placenta Testis
ENST00000545712 0.158±0.00 1.547±1.18 0.538±0.12 0.210±0.00 2.309±0.00 0.114±0.00 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 Biotype Species E-Value Bit Score
ENSMUST00000031560 Mmab-001 protein_coding Mus_musculus 0 760
ENSMUST00000123256 Mmab-004 retained_intron Mus_musculus 0 665
ENSMUST00000150519 Mmab-002 processed_transcript Mus_musculus 0 479
ENSMUST00000112245 Mmab-003 protein_coding Mus_musculus 0 254

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