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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Hermansky-Pudlak syndrome 5 homolog (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000014418 Hps5 10090 - 7:46760466-46796064 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000014562 Hps5-001 46760466-46796027 protein_coding
  ENSMUST00000107653 Hps5-003 46760472-46795881 protein_coding
  ENSMUST00000107654 Hps5-002 46760466-46795999 protein_coding
  ENSMUST00000123725 Hps5-009 46788292-46795703 protein_coding
  ENSMUST00000124675 Hps5-006 46789074-46791076 processed_transcript
  ENSMUST00000130365 Hps5-011 46764902-46771987 protein_coding
  ENSMUST00000138480 Hps5-012 46761240-46769020 processed_transcript
  ENSMUST00000142663 Hps5-005 46760466-46795678 nonsense_mediated_decay
  ENSMUST00000143627 Hps5-013 46766982-46768463 retained_intron
  ENSMUST00000145776 Hps5-004 46760979-46795678 retained_intron
  ENSMUST00000152759 Hps5-008 46786514-46796064 protein_coding
  ENSMUST00000153789 Hps5-007 46762944-46774916 protein_coding
  ENSMUST00000157026 Hps5-010 46775839-46778422 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000014562ENSMUST00000107653ENSMUST00000107654ENSMUST00000138480ENSMUST00000142663ENSMUST00000145776ENSMUST00000153789
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000014562 1.488±0.05 2.782±0.81 1.330±0.00 1.316±0.23 2.301±0.29 2.452±0.50 0.392±0.03 2.030±0.16 0.772±0.25 1.885±0.00 0.824±0.23 1.760±0.60 2.315±0.81 1.933±1.20
ENSMUST00000107653 1.921±0.60 N/A 1.141±0.00 N/A 1.564±0.54 1.407±0.00 0.411±0.10 2.432±0.41 0.698±0.17 1.232±0.00 0.994±0.36 1.626±0.47 2.087±0.81 N/A
ENSMUST00000107654 2.177±0.47 N/A 2.185±1.13 0.988±0.16 2.708±0.56 2.285±0.57 0.844±0.00 4.675±0.82 1.464±0.77 2.717±1.01 0.993±0.29 3.258±2.18 5.117±1.26 2.166±0.78
ENSMUST00000138480 N/A N/A N/A 4.326±0.00 N/A N/A N/A N/A N/A N/A N/A 4.794±0.00 N/A N/A
ENSMUST00000142663 N/A N/A N/A 4.111±1.40 N/A N/A N/A N/A 0.481±0.03 1.606±0.00 N/A 1.914±0.00 2.316±0.40 N/A
ENSMUST00000145776 2.096±0.49 1.146±0.00 1.966±0.09 1.278±0.14 1.724±0.48 2.850±0.41 0.532±0.10 2.629±0.94 0.955±0.12 2.247±0.52 0.600±0.13 1.700±0.46 2.792±0.71 N/A
ENSMUST00000153789 N/A N/A N/A N/A N/A N/A N/A N/A 1.405±0.16 N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00041D CIL_00041D_0003 CGP 7:46760466-46823800

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0006996 IMP organelle organization
GO:0007596 IMP blood coagulation
GO:0031084 IEA BLOC-2 complex
GO:0043473 IMP pigmentation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000071062 hps5 Hermansky-Pudlak syndrome 5 protein_coding Danio_rerio
ENSG00000110756 HPS5 Hermansky-Pudlak syndrome 5 protein_coding Homo_sapiens

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