Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : POMT1
Synonym : LGMD2K
Ensembl Gene ID : ENSG00000130714
Protein Class : Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Gene Description : Protein O-mannosyltransferase 1
Molecular Function : Glycosyltransferase, Transferase
Disease Involvement : Congenital muscular dystrophy, Disease variant, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly
Tissue count:
Brain_Cerebellar Hemisphere : 6 / 16,     Brain_Cerebellum : 10 / 16,     Cells_Cultured fibroblasts : 1 / 16,     Fallopian Tube : 1 / 16,     Muscle_Skeletal : 1 / 16,     Testis : 4 / 16,    
 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 ENST00000372220 1741 1041 10.63339203 1 Testis
2 ENST00000462375 1001 5.487411324 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
3 ENST00000402686 3038 2178 3.209156077 1 Brain_Cerebellum
4 ENST00000372228 3123 2244 2.457383795 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
5 ENST00000341012 2912 2016 2.248096754 1 Testis
6 ENST00000404875 2821 1827 1.960914487 1 Testis
7 ENST00000467848 461 1.728210381 3 Brain_Cerebellar Hemisphere Brain_Cerebellum Testis
8 ENST00000494883 855 1.57540007 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
9 ENST00000485278 3420 1.361189399 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
10 ENST00000483472 568 1.16415104 1 Brain_Cerebellum
11 ENST00000423007 3320 2178 0.486418196 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
12 ENST00000415075 847 470 0.155423635 0
13 ENST00000418774 812 427 0.074629977 1 Brain_Cerebellum
14 ENST00000448212 791 655 0.046650533 1 Brain_Cerebellum
15 ENST00000430619 691 504 0.006408721 2 Cells_Cultured fibroblasts Fallopian Tube
16 ENST00000441334 1168 890 0.002806523 1 Muscle_Skeletal

ENSG00000130714 POMT1


Copyright © 2022 TDL Lab. All Rights Reserved.