Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : DKC1
Synonym : Cbf5, DKC, dyskerin, NAP57, NOLA4, XAP101
Ensembl Gene ID : ENSG00000130826
Protein Class : Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Gene Description : Dyskerin pseudouridine synthase 1
Molecular Function : Isomerase, Ribonucleoprotein, RNA-binding
Disease Involvement : Disease variant, Dyskeratosis congenita
Tissue count:
Bladder : 1 / 13,     Brain_Cerebellar Hemisphere : 2 / 13,     Cells_Cultured fibroblasts : 3 / 13,     Cells_EBV-transformed lymphocytes : 4 / 13,     Cervix_Ectocervix : 1 / 13,     Testis : 1 / 13,    
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 ENST00000369550 2577 1545 16.42629852 1 Cells_EBV-transformed lymphocytes
2 ENST00000620277 3079 1263 1.494988595 0
3 ENST00000484317 671 1.359186947 0
4 ENST00000481062 819 1.006689139 0
5 ENST00000475423 587 0.946817986 0
6 ENST00000492372 406 0.416743318 2 Brain_Cerebellar Hemisphere Testis
7 ENST00000473552 656 0.204392728 1 Cells_EBV-transformed lymphocytes
8 ENST00000475966 902 0.152981571 2 Brain_Cerebellar Hemisphere Cervix_Ectocervix
9 ENST00000426673 843 623 0.088886646 0
10 ENST00000452771 708 510 0.068090899 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
11 ENST00000437719 686 686 0.024377395 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
12 ENST00000412124 670 229 0.016858473 1 Bladder
13 ENST00000413910 851 776 0.001316276 1 Cells_Cultured fibroblasts

ENSG00000130826 DKC1


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