Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : HPS1
Synonym : BLOC3S1, HPS
Ensembl Gene ID : ENSG00000107521
Protein Class : Disease related genes, Human disease related genes, Predicted intracellular proteins
Gene Description : HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Molecular Function : Guanine-nucleotide releasing factor
Disease Involvement : Albinism, Disease variant, Hermansky-Pudlak syndrome
Tissue count:
Brain_Cerebellar Hemisphere : 1 / 15,     Brain_Cerebellum : 1 / 15,     Cells_EBV-transformed lymphocytes : 3 / 15,     Small Intestine_Terminal Ileum : 1 / 15,     Spleen : 1 / 15,     Testis : 1 / 15,     Whole Blood : 1 / 15,    
 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 ENST00000467246 2791 10.79697635 0
2 ENST00000325103 3703 2103 8.591729394 0
3 ENST00000465957 922 4.44528036 1 Cells_EBV-transformed lymphocytes
4 ENST00000497527 536 3.107508689 0
5 ENST00000480020 795 2.753004793 0
6 ENST00000338546 1580 975 2.298171317 0
7 ENST00000361490 3678 2103 1.206339698 0
8 ENST00000414009 857 478 1.030825153 2 Cells_EBV-transformed lymphocytes Testis
9 ENST00000474873 698 0.879089963 1 Cells_EBV-transformed lymphocytes
10 ENST00000470095 801 0.386579664 0
11 ENST00000613394 3714 2103 0.374312423 0
12 ENST00000498219 845 0.335355656 1 Small Intestine_Terminal Ileum
13 ENST00000462743 431 0.284614193 1 Spleen
14 ENST00000478087 971 0.032787807 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
15 ENST00000359632 978 978 0.002694833 1 Whole Blood

ENSG00000107521 HPS1


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