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
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000126524 SBDS 9606 - 7:66987677-66995601 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000246868 SBDS-001 66987677-66995601 protein_coding
  ENST00000414306 SBDS-005 66987744-66995576 nonsense_mediated_decay
  ENST00000463579 SBDS-007 66991137-66994366 retained_intron
  ENST00000490953 SBDS-004 66991061-66995566 retained_intron
  ENST00000617799 SBDS-201 66988341-66995587 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000246868ENST00000414306ENST00000490953ENST00000617799
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
ENST00000414306 N/A 16.587±0.00 N/A 40.829±0.00 12.477±0.00 17.832±0.00 32.550±0.00 16.229±0.00 15.043±0.00 58.388±0.00 29.073±0.00 39.323±0.00 11.562±0.00 N/A
ENST00000490953 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 17.324±0.00
ENST00000617799 N/A N/A N/A N/A 9.024±0.00 5.238±0.00 N/A N/A N/A N/A N/A 35.510±0.00 12.307±0.00 15.735±0.00

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 Description Biotype Species
ENSDARG00000027803 sbds Shwachman-Bodian-Diamond syndrome protein_coding Danio_rerio
ENSMUSG00000025337 Sbds Shwachman-Bodian-Diamond syndrome homolog (human) protein_coding Mus_musculus

Loading