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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Hermansky-Pudlak syndrome 1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000325103 HPS1-009 ENSG00000107521 9606 - 10:98416198-98446926 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastHeartLiverOvaryPlacentaTestisENST00000325103
Transcript ID Adipose Adrenal Brain Breast Heart Liver Ovary Placenta Testis
ENST00000325103 2.076±0.00 4.922±0.00 1.253±0.00 2.621±0.99 0.149±0.00 2.250±0.00 4.442±3.08 1.997±0.04 3.247±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00054X CIL_00054X_0001 CGP 10:98383565-98446947
CIL_00054W CIL_00054W_0001 CGP 10:98416198-99235862

Gene Ontology

GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005737 TAS cytoplasm
GO:0005764 TAS lysosome
GO:0005887 TAS integral component of plasma membrane
GO:0006996 IEA organelle organization
GO:0007040 TAS lysosome organization
GO:0007596 IEA blood coagulation
GO:0007601 IEA visual perception
GO:0016023 IDA cytoplasmic membrane-bounded vesicle
GO:0030318 IEA melanocyte differentiation
GO:0031085 IPI BLOC-3 complex
GO:0032816 IEA positive regulation of natural killer cell activation
GO:0033299 IEA secretion of lysosomal enzymes
GO:0043473 IEA pigmentation
GO:0046983 IPI protein dimerization activity
GO:0048069 IEA eye pigmentation
GO:0060041 IEA retina development in camera-type eye

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000026194 Hps1-009 protein_coding Mus_musculus 0 1964
ENSMUST00000162004 Hps1-001 protein_coding Mus_musculus 0 1951
ENSMUST00000159974 Hps1-004 retained_intron Mus_musculus 0 1692
ENSMUST00000162061 Hps1-005 protein_coding Mus_musculus 0 1546
ENSMUST00000160455 Hps1-002 protein_coding Mus_musculus 0 1245
ENSMUST00000069298 Hps1-003 protein_coding Mus_musculus 0 841
ENSMUST00000160621 Hps1-008 retained_intron Mus_musculus 0 604
ENSMUST00000161252 Hps1-006 nonsense_mediated_decay Mus_musculus 0.00000003 66

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