Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : HPS5
Synonym : AIBP63, BLOC2S2, RU2
Ensembl Gene ID : ENSG00000110756
Protein Class : Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Gene Description : HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Molecular Function :
Disease Involvement : Albinism, Disease variant, Hermansky-Pudlak syndrome
Tissue count:
Artery_Aorta : 1 / 11,     Artery_Tibial : 1 / 11,     Cells_Cultured fibroblasts : 2 / 11,     Cells_EBV-transformed lymphocytes : 2 / 11,     Nerve_Tibial : 3 / 11,     Testis : 4 / 11,    
 TREGT 
Rank     Transcript ID     Transcript
Length		 ORF
Length		  Transcript 
TPM		 Z-Score ≥ 3
Count		 Z-Score ≥ 3
Tissue1		 Z-Score ≥ 3
Tissue2		 Z-Score ≥ 3
Tissue3		 Z-Score ≥ 3
Tissue4
1 ENST00000396253 4725 3048 4.821400686 1 Nerve_Tibial
2 ENST00000349215 4491 3390 0.866108996 1 Cells_Cultured fibroblasts
3 ENST00000537258 1275 792 0.507668666 1 Testis
4 ENST00000544218 759 482 0.300691992 1 Testis
5 ENST00000531848 2160 1203 0.204929962 1 Nerve_Tibial
6 ENST00000543728 320 0.171815315 1 Nerve_Tibial
7 ENST00000438420 4147 3048 0.091190707 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
8 ENST00000399287 711 0.088909467 1 Testis
9 ENST00000589545 485 0.069219169 1 Cells_EBV-transformed lymphocytes
10 ENST00000352460 1642 0.035334415 1 Testis
11 ENST00000545561 1121 0.033888658 2 Artery_Aorta Artery_Tibial

ENSG00000110756 HPS5


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