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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Shwachman-Bodian-Diamond syndrome
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000246868 SBDS-001 ENSG00000126524 9606 - 7:66987677-66995601 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000246868
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000246868 47.410±0.00 37.887±0.00 3.096±0.00 39.129±15.56 39.760±27.71 33.149±18.63 22.826±10.52 26.838±14.47 18.054±3.85 21.024±10.09 32.034±12.26 44.709±20.94 44.816±11.76 37.610±18.28

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005UR CIL_0005UR_0001 CGP 7:66921225-66995601
CIL_0005US CIL_0005US_0001 CGP 7:66987677-67239519

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000922 IDA spindle pole
GO:0001833 IEA inner cell mass cell proliferation
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005730 IDA nucleolus
GO:0005737 IDA cytoplasm
GO:0006364 IMP rRNA processing
GO:0008017 IDA microtubule binding
GO:0008283 IMP cell proliferation
GO:0019843 IDA rRNA binding
GO:0030282 IMP bone mineralization
GO:0030595 IDA leukocyte chemotaxis
GO:0042254 IEA ribosome biogenesis
GO:0042256 IDA mature ribosome assembly
GO:0042273 IBA ribosomal large subunit biogenesis
GO:0043022 IDA ribosome binding
GO:0043148 IDA mitotic spindle stabilization
GO:0044822 IDA poly(A) RNA binding
GO:0048539 IMP bone marrow development

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000026387 Sbds-001 protein_coding Mus_musculus 0 924
ENSMUST00000139211 Sbds-002 nonsense_mediated_decay Mus_musculus 0 645
ENSMUST00000125625 Sbds-003 protein_coding Mus_musculus 0 579

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