Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : PMM2
Synonym : CDG1, CDG1a, CDGS, PMI, PMI1
Ensembl Gene ID : ENSG00000140650
Protein Class : Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Gene Description : Phosphomannomutase 2
Molecular Function : Isomerase
Disease Involvement : Congenital disorder of glycosylation, Disease variant
Tissue count:
Adipose_Subcutaneous : 1 / 18,     Brain_Cerebellum : 1 / 18,     Cells_Cultured fibroblasts : 5 / 18,     Cells_EBV-transformed lymphocytes : 6 / 18,     Cervix_Endocervix : 1 / 18,     Kidney_Cortex : 1 / 18,     Liver : 1 / 18,     Testis : 1 / 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 ENST00000268261 2313 741 10.6530435 0
2 ENST00000567697 5409 0.592835223 0
3 ENST00000562025 569 0.543012326 1 Adipose_Subcutaneous
4 ENST00000570134 573 201 0.45627697 1 Cervix_Endocervix
5 ENST00000566604 986 360 0.387990337 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
6 ENST00000564030 1036 0.380311595 0
7 ENST00000565221 793 213 0.211549802 1 Cells_Cultured fibroblasts
8 ENST00000562318 931 201 0.162383898 1 Cells_Cultured fibroblasts
9 ENST00000569958 698 468 0.161919337 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
10 ENST00000564069 567 427 0.134932595 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
11 ENST00000562448 583 0.094651659 0
12 ENST00000566196 531 0.093202622 1 Cells_EBV-transformed lymphocytes
13 ENST00000568602 550 276 0.074141221 1 Cells_EBV-transformed lymphocytes
14 ENST00000566540 1557 201 0.066705695 1 Brain_Cerebellum
15 ENST00000570076 1002 273 0.052675949 0
16 ENST00000565896 514 198 0.012981303 1 Cells_EBV-transformed lymphocytes
17 ENST00000566983 907 660 0.007404118 1 Testis
18 ENST00000565837 625 0.005929829 2 Kidney_Cortex Liver

ENSG00000140650 PMM2


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