Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : EPM2A
Synonym : LD, LDE
Ensembl Gene ID : ENSG00000112425
Protein Class : Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Gene Description : EPM2A glucan phosphatase, laforin
Molecular Function : Hydrolase, Protein phosphatase
Disease Involvement : Disease variant, Epilepsy, Glycogen storage disease, Neurodegeneration
Tissue count:
Brain_Hippocampus : 1 / 29,     Brain_Spinal cord (cervical c-1) : 1 / 29,     Cervix_Ectocervix : 1 / 29,     Colon_Sigmoid : 3 / 29,     Fallopian Tube : 1 / 29,     Heart_Left Ventricle : 1 / 29,     Kidney_Medulla : 1 / 29,     Muscle_Skeletal : 8 / 29,     Nerve_Tibial : 1 / 29,     Testis : 11 / 29,    
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 ENST00000639423 2886 582 3.024375475 1 Muscle_Skeletal
2 ENST00000611340 2786 582 1.340548456 1 Muscle_Skeletal
3 ENST00000638262 2679 675 0.745430215 1 Muscle_Skeletal
4 ENST00000638554 3045 405 0.690973111 1 Colon_Sigmoid
5 ENST00000367519 3465 996 0.41972488 1 Muscle_Skeletal
6 ENST00000639049 3335 383 0.28379288 1 Brain_Spinal cord (cervical c-1)
7 ENST00000639799 3649 0.213329564 1 Colon_Sigmoid
8 ENST00000638717 2118 629 0.20398024 0
9 ENST00000639106 5533 0.160831562 0
10 ENST00000639859 6926 0.152743597 1 Colon_Sigmoid
11 ENST00000640351 1388 56 0.1008042 2 Muscle_Skeletal Testis
12 ENST00000489412 497 0.076945177 1 Testis
13 ENST00000496228 560 0.070684178 1 Testis
14 ENST00000639649 849 0.067976765 1 Testis
15 ENST00000639465 2203 582 0.037395606 2 Fallopian Tube Muscle_Skeletal
16 ENST00000640225 1516 213 0.034254413 1 Testis
17 ENST00000638783 801 582 0.031179173 1 Muscle_Skeletal
18 ENST00000450221 659 435 0.030313294 1 Testis
19 ENST00000435470 1278 954 0.015988438 1 Muscle_Skeletal
20 ENST00000638597 1873 0.015419584 1 Nerve_Tibial
21 ENST00000640898 322 0.013323255 1 Testis
22 ENST00000640426 495 0.012917797 1 Testis
23 ENST00000640980 647 261 0.010063044 1 Kidney_Medulla
24 ENST00000461700 555 0.008740051 1 Testis
25 ENST00000639849 804 213 0.00853258 1 Testis
26 ENST00000638778 813 582 0.006597117 1 Testis
27 ENST00000639648 551 0.006042996 1 Cervix_Ectocervix
28 ENST00000640297 374 0.003055494 1 Brain_Hippocampus
29 ENST00000618445 1694 954 0.000947413 1 Heart_Left Ventricle

ENSG00000112425 EPM2A


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