Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : HMBS
Synonym : PBGD, PORC, UPS
Ensembl Gene ID : ENSG00000256269
Protein Class : Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Gene Description : Hydroxymethylbilane synthase
Molecular Function : Transferase
Disease Involvement : Disease variant
Tissue count:
Brain_Cerebellar Hemisphere : 3 / 26,     Brain_Cerebellum : 5 / 26,     Brain_Spinal cord (cervical c-1) : 1 / 26,     Cells_Cultured fibroblasts : 3 / 26,     Cells_EBV-transformed lymphocytes : 1 / 26,     Cervix_Ectocervix : 3 / 26,     Fallopian Tube : 2 / 26,     Muscle_Skeletal : 3 / 26,     Spleen : 4 / 26,     Testis : 1 / 26,     Whole Blood : 3 / 26,    
 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 ENST00000278715 1501 1086 7.033001388 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
2 ENST00000543543 1796 0.816490915 1 Spleen
3 ENST00000544182 1542 0.624130828 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
4 ENST00000392841 1411 1035 0.462474221 1 Whole Blood
5 ENST00000537841 1559 1035 0.446978593 1 Brain_Spinal cord (cervical c-1)
6 ENST00000539045 845 0.413851696 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
7 ENST00000544360 695 0.405278049 1 Cells_Cultured fibroblasts
8 ENST00000546226 2112 0.39178448 1 Spleen
9 ENST00000542044 1544 0.303641307 1 Brain_Cerebellum
10 ENST00000539986 1155 561 0.246454301 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
11 ENST00000545901 581 0.221692562 0
12 ENST00000542729 1469 915 0.189807338 0
13 ENST00000536185 441 0.184317636 2 Cells_Cultured fibroblasts Cervix_Ectocervix
14 ENST00000543090 1347 993 0.181463064 1 Muscle_Skeletal
15 ENST00000544387 1351 966 0.166045326 1 Muscle_Skeletal
16 ENST00000543821 562 0.113371815 0
17 ENST00000545621 1282 246 0.102480871 0
18 ENST00000534956 547 0.068253394 1 Fallopian Tube
19 ENST00000536813 507 358 0.058214123 1 Cervix_Ectocervix
20 ENST00000535793 832 192 0.042399514 1 Muscle_Skeletal
21 ENST00000542822 936 246 0.028342323 1 Cervix_Ectocervix
22 ENST00000546302 707 573 0.027475985 1 Fallopian Tube
23 ENST00000640813 1283 573 0.021123805 1 Brain_Cerebellum
24 ENST00000535253 755 561 0.018921825 2 Spleen Whole Blood
25 ENST00000542345 882 0.017092581 2 Spleen Whole Blood
26 ENST00000442944 1548 1035 0.011620334 1 Testis

ENSG00000256269 HMBS


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