Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : HPS4
Synonym : BLOC3S2, KIAA1667, LE
Ensembl Gene ID : ENSG00000100099
Protein Class : Disease related genes, Human disease related genes, Predicted intracellular proteins
Gene Description : HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Molecular Function : Guanine-nucleotide releasing factor
Disease Involvement : Albinism, Hermansky-Pudlak syndrome
Tissue count:
Brain_Cerebellar Hemisphere : 5 / 18,     Brain_Cerebellum : 9 / 18,     Cells_Cultured fibroblasts : 1 / 18,     Skin_Sun Exposed (Lower leg) : 1 / 18,     Testis : 8 / 18,    
 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 ENST00000398145 4497 2127 3.779962295 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
2 ENST00000464362 4277 504 3.330518115 1 Brain_Cerebellum
3 ENST00000336873 3786 2127 3.256967583 1 Testis
4 ENST00000466781 6136 2.442178958 1 Brain_Cerebellum
5 ENST00000491142 486 1.852094358 1 Testis
6 ENST00000429411 3492 576 0.94456585 3 Brain_Cerebellar Hemisphere Brain_Cerebellum Testis
7 ENST00000496385 2772 0.926011505 0
8 ENST00000483631 737 0.783663734 1 Skin_Sun Exposed (Lower leg)
9 ENST00000493455 986 0.488788822 1 Brain_Cerebellum
10 ENST00000481910 1914 0.474377905 1 Brain_Cerebellum
11 ENST00000402105 3562 2112 0.441480425 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
12 ENST00000439453 3936 591 0.358558938 3 Brain_Cerebellar Hemisphere Brain_Cerebellum Testis
13 ENST00000485842 973 0.239956275 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
14 ENST00000473782 575 0.173605694 1 Testis
15 ENST00000422379 1942 1445 0.094178312 1 Cells_Cultured fibroblasts
16 ENST00000479064 697 0.080525447 1 Testis
17 ENST00000519774 471 0.048185601 1 Testis
18 ENST00000459918 556 0.012105622 1 Testis

ENSG00000100099 HPS4


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