Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : PRPS1
Synonym : CMTX5, DFN2, DFNX1
Ensembl Gene ID : ENSG00000147224
Protein Class : Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Gene Description : Phosphoribosyl pyrophosphate synthetase 1
Molecular Function : Kinase, Transferase
Disease Involvement : Charcot-Marie-Tooth disease, Deafness, Disease variant, Gout, Mental retardation, Neurodegeneration, Neuropathy, Non-syndromic deafness, Retinitis pigmentosa
Tissue count:
Brain_Cerebellar Hemisphere : 2 / 4,     Cells_EBV-transformed lymphocytes : 2 / 4,    
 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 ENST00000372435 2073 957 17.93642888 1 Cells_EBV-transformed lymphocytes
2 ENST00000372428 1748 345 0.780286994 2 Brain_Cerebellar Hemisphere Cells_EBV-transformed lymphocytes
3 ENST00000372418 942 657 0.379650731 1 Brain_Cerebellar Hemisphere
4 ENST00000372419 628 507 0.234838565 0

ENSG00000147224 PRPS1


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