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
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000110756 HPS5 9606 - 11:18278668-18322198 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000349215 HPS5-001 18279059-18322174 protein_coding
  ENST00000352460 HPS5-006 18281914-18296101 processed_transcript
  ENST00000396253 HPS5-002 18278668-18322174 protein_coding
  ENST00000399287 HPS5-004 18311517-18322178 retained_intron
  ENST00000438420 HPS5-005 18279059-18322174 protein_coding
  ENST00000531848 HPS5-003 18296162-18322198 protein_coding
  ENST00000537258 HPS5-007 18279618-18286914 protein_coding
  ENST00000543728 HPS5-010 18287891-18296045 processed_transcript
  ENST00000544218 HPS5-009 18285373-18296045 protein_coding
  ENST00000545561 HPS5-008 18283793-18291942 retained_intron
  ENST00000589545 HPS5-012 18311956-18322088 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000349215ENST00000396253ENST00000438420ENST00000531848ENST00000544218ENST00000545561
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000349215 0.896±0.00 N/A 2.187±0.00 N/A N/A N/A 1.530±0.39 1.053±0.00 1.822±0.60 0.579±0.00 1.493±0.67 1.881±0.92 3.987±0.00
ENST00000396253 0.451±0.00 N/A 0.744±0.06 1.251±0.00 1.622±0.00 0.520±0.00 0.625±0.00 1.189±0.00 1.032±0.00 0.249±0.00 2.204±0.58 1.298±0.62 5.040±0.00
ENST00000438420 0.510±0.00 2.505±0.00 N/A 2.266±0.00 1.499±0.00 0.822±0.00 2.022±0.00 8.843±0.00 N/A N/A 1.886±0.29 3.282±2.38 8.537±0.00
ENST00000531848 N/A N/A 1.318±0.00 2.081±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000544218 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.150±0.00 N/A N/A N/A
ENST00000545561 N/A N/A 2.103±0.00 N/A 2.062±0.00 N/A 3.626±0.00 N/A N/A N/A 3.924±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00041D CIL_00041D_0002 CGP 11:18278668-18367044

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

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000071062 hps5 Hermansky-Pudlak syndrome 5 protein_coding Danio_rerio
ENSMUSG00000014418 Hps5 Hermansky-Pudlak syndrome 5 homolog (human) protein_coding Mus_musculus

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