Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : BLOC1S6
Synonym : HPS9, PA, PLDN
Ensembl Gene ID : ENSG00000104164
Protein Class : Disease related genes, Human disease related genes, Predicted intracellular proteins
Gene Description : Biogenesis of lysosomal organelles complex 1 subunit 6
Molecular Function :
Disease Involvement : Albinism, Disease variant, Hermansky-Pudlak syndrome
Tissue count:
Brain_Cerebellar Hemisphere : 4 / 20,     Brain_Cerebellum : 2 / 20,     Brain_Nucleus accumbens (basal ganglia) : 1 / 20,     Cells_Cultured fibroblasts : 6 / 20,     Cells_EBV-transformed lymphocytes : 6 / 20,     Cervix_Ectocervix : 1 / 20,     Cervix_Endocervix : 1 / 20,     Muscle_Skeletal : 1 / 20,     Testis : 1 / 20,    
 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 ENST00000220531 4037 519 13.04528248 0
2 ENST00000568816 4013 228 1.28856944 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
3 ENST00000567740 1051 0.422718915 1 Brain_Cerebellar Hemisphere
4 ENST00000567461 1052 228 0.396094457 1 Cells_Cultured fibroblasts
5 ENST00000563160 581 0.388142378 1 Cells_EBV-transformed lymphocytes
6 ENST00000566753 1996 258 0.317403303 0
7 ENST00000568597 592 261 0.242031558 2 Cells_EBV-transformed lymphocytes Muscle_Skeletal
8 ENST00000567523 1839 243 0.174980004 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
9 ENST00000565409 616 228 0.154813395 1 Cells_EBV-transformed lymphocytes
10 ENST00000568963 480 132 0.133960492 1 Cells_Cultured fibroblasts
11 ENST00000565727 599 0.094379188 1 Brain_Cerebellar Hemisphere
12 ENST00000563000 622 0.082970982 2 Brain_Cerebellar Hemisphere Brain_Nucleus accumbens (basal ganglia)
13 ENST00000566184 493 0.082032756 1 Brain_Cerebellum
14 ENST00000569076 557 341 0.073309573 0
15 ENST00000562384 494 228 0.049154883 2 Cells_Cultured fibroblasts Cervix_Endocervix
16 ENST00000566801 338 64 0.042202757 0
17 ENST00000565323 688 534 0.038440003 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
18 ENST00000565216 573 396 0.036668513 1 Cervix_Ectocervix
19 ENST00000564310 636 172 0.034603942 1 Testis
20 ENST00000564765 706 141 0.033308495 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes

ENSG00000104164 BLOC1S6


Copyright © 2022 TDL Lab. All Rights Reserved.