Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : TWNK
Synonym : C10orf2, FLJ21832, IOSCA, PEO, PEO1, TWINKLE, TWINL
Ensembl Gene ID : ENSG00000107815
Protein Class : Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Gene Description : Twinkle mtDNA helicase
Molecular Function : Helicase, Hydrolase
Disease Involvement : Deafness, Disease variant, Neurodegeneration, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegia
Tissue count:
Cells_Cultured fibroblasts : 3 / 5,     Cells_EBV-transformed lymphocytes : 3 / 5,     Testis : 2 / 5,    
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 ENST00000311916 3131 2055 2.923815893 2 Cells_EBV-transformed lymphocytes Testis
2 ENST00000370228 3175 1749 0.649346862 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
3 ENST00000473656 946 0.331856335 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
4 ENST00000459764 327 0.067623757 1 Cells_Cultured fibroblasts
5 ENST00000476766 838 0.019109734 1 Testis

ENSG00000107815 TWNK


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