Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : SPTBN2
Synonym : SCA5
Ensembl Gene ID : ENSG00000173898
Protein Class : Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Gene Description : Spectrin beta, non-erythrocytic 2
Molecular Function : Actin capping, Actin-binding
Disease Involvement : Disease variant, Neurodegeneration, Spinocerebellar ataxia
Tissue count:
Artery_Tibial : 1 / 11,     Brain_Cerebellar Hemisphere : 1 / 11,     Brain_Cerebellum : 10 / 11,     Brain_Frontal Cortex (BA9) : 1 / 11,     Cells_Cultured fibroblasts : 1 / 11,     Skin_Not Sun Exposed (Suprapubic) : 3 / 11,     Skin_Sun Exposed (Lower leg) : 3 / 11,    
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 ENST00000528051 573 8.383631954 1 Brain_Cerebellum
2 ENST00000309996 7866 7173 7.249652902 1 Brain_Cerebellum
3 ENST00000617502 3498 2805 6.548320958 1 Brain_Cerebellum
4 ENST00000532650 571 5.139628442 1 Brain_Cerebellum
5 ENST00000532902 573 3.546005881 1 Brain_Cerebellum
6 ENST00000529997 8085 7098 1.806381508 3 Brain_Cerebellum Skin_Not Sun Exposed (Suprapubic) Skin_Sun Exposed (Lower leg)
7 ENST00000527010 859 351 1.473614493 2 Brain_Cerebellum Brain_Frontal Cortex (BA9)
8 ENST00000530775 473 1.469772358 3 Brain_Cerebellum Skin_Not Sun Exposed (Suprapubic) Skin_Sun Exposed (Lower leg)
9 ENST00000533211 8128 7173 0.70603396 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
10 ENST00000530665 462 0.514549334 3 Brain_Cerebellum Skin_Not Sun Exposed (Suprapubic) Skin_Sun Exposed (Lower leg)
11 ENST00000611817 2890 2805 0.000241499 2 Artery_Tibial Cells_Cultured fibroblasts

ENSG00000173898 SPTBN2


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