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 6
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000166189 HPS6 9606 + 10:102065390-102068038 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000299238 HPS6-001 102065390-102068038 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000299238
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000299238 4.297±0.00 7.728±0.00 1.435±0.00 3.270±0.26 3.953±2.37 3.194±0.15 2.192±1.09 4.949±3.43 3.221±0.77 1.845±0.60 2.625±1.66 6.934±2.56 11.476±1.29 3.337±0.50

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00099F CIL_00099F_0001 VISTA 10:101467436-102068636
CIL_00099E CIL_00099E_0001 VISTA 10:101480423-102081273
CIL_0005NL CIL_0005NL_0001 CGP 10:101845599-102068038
CIL_0005WD CIL_0005WD_0001 CGP 10:102065390-102120453

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0005768 IEA endosome
GO:0005783 IEA endoplasmic reticulum
GO:0006996 IEA organelle organization
GO:0007596 IEA blood coagulation
GO:0016020 IDA membrane
GO:0017137 IPI Rab GTPase binding
GO:0030318 IEA melanocyte differentiation
GO:0030742 IPI GTP-dependent protein binding
GO:0031084 IPI BLOC-2 complex
GO:0043473 IEA pigmentation
GO:0072657 IMP protein localization to membrane

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000013581 HPS6 Hermansky-Pudlak syndrome 6 protein_coding Danio_rerio
ENSMUSG00000074811 Hps6 Hermansky-Pudlak syndrome 6 protein_coding Mus_musculus

Loading