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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for SPTBN2 |
 Gene summary |
| Gene information | Gene symbol | SPTBN2 | Gene ID | 6712 |
| Gene name | spectrin beta, non-erythrocytic 2 | |
| Synonyms | GTRAP41|SCA5|SCAR14 | |
| Cytomap | 11q13.2 | |
| Type of gene | protein-coding | |
| Description | spectrin beta chain, non-erythrocytic 2beta-III spectringlutamate transporter EAAT4-associated protein 41spectrin beta III sigma 2spectrin beta chain, brain 2spectrin, non-erythroid beta chain 2spinocerebellar ataxia 5 protein | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SPTBN2 | GO:0016192 | vesicle-mediated transport | 9826670 |
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Gene structures and expression levels for SPTBN2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000173898
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000611817.4 | SPTBN2-210:protein_coding:SPTBN2 | 3.921685e+00 | 4.961595e+00 | 2.791047e-04 | 5.817981e-03 |
| PG | DOWN | ENST00000528051.1 | SPTBN2-203:retained_intron:SPTBN2 | 1.396150e+00 | -1.272808e+00 | 3.934262e-03 | 3.862542e-02 |
| CB | DOWN | ENST00000617502.4 | SPTBN2-211:protein_coding:SPTBN2 | 4.785793e+02 | -2.311090e+00 | 9.847942e-09 | 2.968003e-07 |
| CB | DOWN | ENST00000528051.1 | SPTBN2-203:retained_intron:SPTBN2 | 1.998124e+02 | -1.219698e+00 | 5.001580e-06 | 5.856271e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SPTBN2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_171832 | chr11 | 66690039:66690283:66691284:66691658:66692536:66692740 | 66691284:66691658 |
| exon_skip_199872 | chr11 | 66721084:66721262:66721350:66721440:66728741:66728959 | 66721350:66721440 |
| exon_skip_227163 | chr11 | 66686994:66687167:66687427:66687647:66687868:66687918 | 66687427:66687647 |
| exon_skip_249034 | chr11 | 66721084:66721262:66721350:66721440:66728741:66728792 | 66721350:66721440 |
| exon_skip_273779 | chr11 | 66708141:66708299:66708902:66709019:66710582:66710769 | 66708902:66709019 |
| exon_skip_282557 | chr11 | 66688004:66688079:66688169:66688311:66688653:66688661 | 66688169:66688311 |
| exon_skip_31950 | chr11 | 66699406:66699608:66700526:66701282:66701584:66701721 | 66700526:66701282 |
| exon_skip_49687 | chr11 | 66715830:66715981:66721084:66721262:66728741:66728959 | 66721084:66721262 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for SPTBN2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000533211 | 66721350 | 66721440 | 3UTR-3UTR |
| ENST00000309996 | 66688169 | 66688311 | Frame-shift |
| ENST00000533211 | 66688169 | 66688311 | Frame-shift |
| ENST00000309996 | 66700526 | 66701282 | Frame-shift |
| ENST00000533211 | 66700526 | 66701282 | Frame-shift |
| ENST00000309996 | 66708902 | 66709019 | Frame-shift |
| ENST00000533211 | 66708902 | 66709019 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000533211 | 66721350 | 66721440 | 3UTR-3UTR |
| ENST00000309996 | 66688169 | 66688311 | Frame-shift |
| ENST00000533211 | 66688169 | 66688311 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000533211 | 66721350 | 66721440 | 3UTR-3UTR |
| ENST00000309996 | 66687427 | 66687647 | Frame-shift |
| ENST00000533211 | 66687427 | 66687647 | Frame-shift |
| ENST00000309996 | 66688169 | 66688311 | Frame-shift |
| ENST00000533211 | 66688169 | 66688311 | Frame-shift |
| ENST00000309996 | 66700526 | 66701282 | Frame-shift |
| ENST00000533211 | 66700526 | 66701282 | Frame-shift |
| ENST00000309996 | 66708902 | 66709019 | Frame-shift |
| ENST00000533211 | 66708902 | 66709019 | Frame-shift |
| ENST00000309996 | 66691284 | 66691658 | In-frame |
| ENST00000533211 | 66691284 | 66691658 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPTBN2 |
p-ENSG00000173898_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000309996 | 7883 | 2390 | 66691284 | 66691658 | 5263 | 5636 | 1730 | 1854 |
| ENST00000533211 | 8145 | 2390 | 66691284 | 66691658 | 5523 | 5896 | 1730 | 1854 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15020 | 1730 | 1854 | 2 | 2390 | Chain | ID=PRO_0000073463;Note=Spectrin beta chain%2C non-erythrocytic 2 |
| O15020 | 1730 | 1854 | 2 | 2390 | Chain | ID=PRO_0000073463;Note=Spectrin beta chain%2C non-erythrocytic 2 |
| O15020 | 1730 | 1854 | 1696 | 1797 | Repeat | Note=Spectrin 14;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15020 | 1730 | 1854 | 1696 | 1797 | Repeat | Note=Spectrin 14;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15020 | 1730 | 1854 | 1801 | 1904 | Repeat | Note=Spectrin 15;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15020 | 1730 | 1854 | 1801 | 1904 | Repeat | Note=Spectrin 15;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SPTBN2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-331-3p | chr11:66721410-66721417 | 8mer-1a | chr11:66721406-66721426 | 163.00 | -24.89 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-4726-3p | chr11:66721430-66721437 | 8mer-1a | chr11:66721411-66721437 | 150.00 | -31.42 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-3190-5p | chr11:66721369-66721376 | 8mer-1a | chr11:66721361-66721381 | 159.00 | -19.51 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6826-3p | chr11:66721419-66721426 | 8mer-1a | chr11:66721406-66721426 | 163.00 | -24.89 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6509-3p | chr11:66721394-66721401 | 8mer-1a | chr11:66721391-66721411 | 170.00 | -28.57 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6846-5p | chr11:66721405-66721412 | 8mer-1a | chr11:66721394-66721416 | 152.00 | -29.78 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6848-5p | chr11:66721405-66721412 | 8mer-1a | chr11:66721394-66721416 | 152.00 | -29.78 |
| Mayo | ENST00000533211 | 66721350 | 66721440 | hsa-miR-181a-2-3p | chr11:66721393-66721400 | 8mer-1a | chr11:66721391-66721411 | 170.00 | -28.57 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-331-3p | chr11:66721410-66721417 | 8mer-1a | chr11:66721406-66721426 | 163.00 | -24.89 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-4726-3p | chr11:66721430-66721437 | 8mer-1a | chr11:66721411-66721437 | 150.00 | -31.42 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-3190-5p | chr11:66721369-66721376 | 8mer-1a | chr11:66721361-66721381 | 159.00 | -19.51 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6826-3p | chr11:66721419-66721426 | 8mer-1a | chr11:66721406-66721426 | 163.00 | -24.89 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6509-3p | chr11:66721394-66721401 | 8mer-1a | chr11:66721391-66721411 | 170.00 | -28.57 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6846-5p | chr11:66721405-66721412 | 8mer-1a | chr11:66721394-66721416 | 152.00 | -29.78 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6848-5p | chr11:66721405-66721412 | 8mer-1a | chr11:66721394-66721416 | 152.00 | -29.78 |
| MSBB | ENST00000533211 | 66721350 | 66721440 | hsa-miR-181a-2-3p | chr11:66721393-66721400 | 8mer-1a | chr11:66721391-66721411 | 170.00 | -28.57 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-331-3p | chr11:66721410-66721417 | 8mer-1a | chr11:66721406-66721426 | 163.00 | -24.89 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-4726-3p | chr11:66721430-66721437 | 8mer-1a | chr11:66721411-66721437 | 150.00 | -31.42 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-3190-5p | chr11:66721369-66721376 | 8mer-1a | chr11:66721361-66721381 | 159.00 | -19.51 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6826-3p | chr11:66721419-66721426 | 8mer-1a | chr11:66721406-66721426 | 163.00 | -24.89 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6509-3p | chr11:66721394-66721401 | 8mer-1a | chr11:66721391-66721411 | 170.00 | -28.57 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6846-5p | chr11:66721405-66721412 | 8mer-1a | chr11:66721394-66721416 | 152.00 | -29.78 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-6848-5p | chr11:66721405-66721412 | 8mer-1a | chr11:66721394-66721416 | 152.00 | -29.78 |
| ROSMAP | ENST00000533211 | 66721350 | 66721440 | hsa-miR-181a-2-3p | chr11:66721393-66721400 | 8mer-1a | chr11:66721391-66721411 | 170.00 | -28.57 |
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SNVs in the skipped exons for SPTBN2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for SPTBN2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPTBN2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SPTBN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | SRSF11 | exon_skip_199872 | -4.844405e-01 | 4.670564e-21 |
| IFG | SRSF2 | exon_skip_55418 | -4.050595e-01 | 3.249526e-02 |
| IFG | HNRNPK | exon_skip_55418 | -4.628856e-01 | 1.312267e-02 |
| IFG | EWSR1 | exon_skip_55418 | -4.368777e-01 | 2.009706e-02 |
| IFG | SRSF5 | exon_skip_55418 | -4.332808e-01 | 2.126538e-02 |
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RelatedDrugs for SPTBN2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SPTBN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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