Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : SPG11
Synonym : ALS5, FLJ21439, KIAA1840
Ensembl Gene ID : ENSG00000104133
Protein Class : Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Gene Description : SPG11 vesicle trafficking associated, spatacsin
Molecular Function :
Disease Involvement : Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy
Tissue count:
Cells_Cultured fibroblasts : 1 / 25,     Cells_EBV-transformed lymphocytes : 1 / 25,     Fallopian Tube : 1 / 25,     Kidney_Medulla : 1 / 25,     Lung : 1 / 25,     Nerve_Tibial : 1 / 25,     Skin_Sun Exposed (Lower leg) : 1 / 25,     Small Intestine_Terminal Ileum : 1 / 25,     Spleen : 5 / 25,     Testis : 3 / 25,     Thyroid : 1 / 25,     Whole Blood : 1 / 25,    
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 ENST00000559511 2127 1703 12.25246668 1 Spleen
2 ENST00000261866 7774 7332 5.472848563 0
3 ENST00000559933 518 4.089581701 1 Spleen
4 ENST00000560299 437 1.981134734 0
5 ENST00000558080 759 1.714808139 1 Spleen
6 ENST00000558138 750 750 0.918145223 1 Spleen
7 ENST00000558561 555 0.568370105 0
8 ENST00000561268 530 0.53521913 0
9 ENST00000559347 716 0.30619825 2 Spleen Testis
10 ENST00000558988 620 417 0.25610272 0
11 ENST00000561391 629 0.243902679 1 Skin_Sun Exposed (Lower leg)
12 ENST00000559754 411 323 0.230797087 1 Testis
13 ENST00000558253 879 0.223572547 0
14 ENST00000557866 468 468 0.146560705 2 Kidney_Medulla Whole Blood
15 ENST00000559822 561 394 0.141192108 1 Thyroid
16 ENST00000560435 413 132 0.094552139 0
17 ENST00000558155 571 309 0.092190771 0
18 ENST00000559193 2579 2340 0.087797984 1 Lung
19 ENST00000558989 1816 0.085495263 0
20 ENST00000558790 858 0.07454789 1 Testis
21 ENST00000558093 526 0.073720182 1 Nerve_Tibial
22 ENST00000558319 6426 6240 0.034472728 0
23 ENST00000560858 447 300 0.033260714 1 Small Intestine_Terminal Ileum
24 ENST00000535302 7288 6993 0.019703171 2 Cells_Cultured fibroblasts Cells_EBV-transformed lymphocytes
25 ENST00000427534 6935 6798 0.007888622 1 Fallopian Tube

ENSG00000104133 SPG11


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