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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Shwachman-Bodian-Diamond syndrome homolog (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000025337 Sbds 10090 - 5:130245731-130255530 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000026387 Sbds-001 130245731-130255530 protein_coding
  ENSMUST00000125625 Sbds-003 130247884-130254085 protein_coding
  ENSMUST00000139211 Sbds-002 130246405-130255405 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000026387ENSMUST00000125625ENSMUST00000139211
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000026387 14.755±4.10 16.894±8.89 30.971±2.72 16.418±7.03 7.949±1.61 23.446±2.17 8.444±1.10 15.766±3.84 18.671±8.37 19.939±2.91 10.489±1.24 13.623±11.60 27.884±11.87 30.024±8.03
ENSMUST00000125625 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 7.127±0.00 N/A N/A
ENSMUST00000139211 N/A N/A N/A 42.611±0.00 7.039±0.00 N/A N/A N/A N/A N/A N/A 25.106±13.84 50.618±8.36 62.055±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005UR CIL_0005UR_0002 CGP 5:130219744-130255530
CIL_0005US CIL_0005US_0002 CGP 5:130245731-130341563

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000922 ISS spindle pole
GO:0001833 IMP inner cell mass cell proliferation
GO:0003723 IBA RNA binding
GO:0005515 IEA protein binding
GO:0005634 IBA nucleus
GO:0005730 IEA nucleolus
GO:0005737 IBA cytoplasm
GO:0006364 IBA rRNA processing
GO:0008017 IEA microtubule binding
GO:0008283 ISS cell proliferation
GO:0019843 IEA rRNA binding
GO:0030282 IEA bone mineralization
GO:0030595 IEA leukocyte chemotaxis
GO:0042256 ISS mature ribosome assembly
GO:0042273 IBA ribosomal large subunit biogenesis
GO:0043022 ISS ribosome binding
GO:0043148 IEA mitotic spindle stabilization
GO:0044822 IEA poly(A) RNA binding
GO:0048539 IEA bone marrow development

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000027803 sbds Shwachman-Bodian-Diamond syndrome protein_coding Danio_rerio
ENSG00000126524 SBDS Shwachman-Bodian-Diamond syndrome protein_coding Homo_sapiens

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