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) cblD type, with homocystinuria
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000428879 MMADHC-001 ENSG00000168288 9606 - 2:149569644-149587602 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; KidneyENST00000428879
Transcript ID Kidney
ENST00000428879 4.990±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007E0 CIL_0007E0_0001 CGP 2:149329985-149587816
CIL_0007DZ CIL_0007DZ_0001 CGP 2:149569634-150539011

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005739 IEA mitochondrion
GO:0005829 TAS cytosol
GO:0006766 TAS vitamin metabolic process
GO:0006767 TAS water-soluble vitamin metabolic process
GO:0009235 TAS:IEA cobalamin metabolic process
GO:0044281 TAS small molecule metabolic process

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000102769 Mmadhc-001 protein_coding Mus_musculus 0 1147
ENSMUST00000134480 Mmadhc-004 processed_transcript Mus_musculus 0 881
ENSMUST00000144143 Mmadhc-007 protein_coding Mus_musculus 0 830
ENSMUST00000147345 Mmadhc-003 processed_transcript Mus_musculus 0 782
ENSMUST00000154254 Mmadhc-006 processed_transcript Mus_musculus 0 721
ENSMUST00000133768 Mmadhc-002 protein_coding Mus_musculus 0 719
ENSMUST00000140563 Mmadhc-005 processed_transcript Mus_musculus 0 651
ENSMUST00000152948 Mmadhc-008 processed_transcript Mus_musculus 0 315

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