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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 SEPTIN4 |
 Gene summary |
| Gene information | Gene symbol | SEPTIN4 | Gene ID | 5414 |
| Gene name | septin 4 | |
| Synonyms | ARTS|BRADEION|C17orf47|CE5B3|H5|MART|PNUTL2|SEP4|SEPT4|hCDCREL-2|hucep-7 | |
| Cytomap | 17q22 | |
| Type of gene | protein-coding | |
| Description | septin-4CE5B3 betaapoptosis-related protein in the TGF-beta signaling pathwaybradeion betabrain protein H5cell division control-related protein 2cerebral protein 7peanut-like protein 2septin-Muncharacterized protein C17orf47 | |
| 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 |
| SEPTIN4 | GO:0031398 | positive regulation of protein ubiquitination | 21185211 |
| SEPTIN4 | GO:0043065 | positive regulation of apoptotic process | 21185211 |
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Gene structures and expression levels for SEPTIN4 |
| 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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ENSG00000108387
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| TC | DOWN | 2.100854e+04 | -9.322127e-01 | 6.550561e-12 | 8.312428e-10 |
| 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 |
| PCC | DOWN | ENST00000577729.5 | SEPTIN4-209:protein_coding:SEPTIN4 | 4.649298e+00 | -1.075356e+00 | 6.189544e-05 | 4.393816e-03 |
| CB | DOWN | ENST00000580844.5 | SEPTIN4-217:protein_coding:SEPTIN4 | 1.162348e+03 | -1.074959e+00 | 3.162203e-13 | 5.753494e-11 |
| CB | DOWN | ENST00000583114.5 | SEPTIN4-224:protein_coding:SEPTIN4 | 4.090366e+02 | -8.969758e-01 | 6.159332e-09 | 2.004396e-07 |
| CB | DOWN | ENST00000577729.5 | SEPTIN4-209:protein_coding:SEPTIN4 | 1.320160e+01 | -1.077561e+00 | 3.825518e-05 | 3.277511e-04 |
| CB | DOWN | ENST00000580791.1 | SEPTIN4-214:lncRNA:SEPTIN4 | 1.535695e+00 | -3.743280e+00 | 2.128110e-03 | 9.704411e-03 |
| TC | DOWN | ENST00000583114.5 | SEPTIN4-224:protein_coding:SEPTIN4 | 1.746084e+03 | -1.442489e+00 | 3.590436e-15 | 2.905212e-12 |
| TC | DOWN | ENST00000580844.5 | SEPTIN4-217:protein_coding:SEPTIN4 | 1.066300e+03 | -1.454353e+00 | 4.949781e-15 | 3.741055e-12 |
| TC | DOWN | ENST00000393086.5 | SEPTIN4-204:protein_coding:SEPTIN4 | 6.322969e+03 | -1.172909e+00 | 1.208626e-14 | 8.149695e-12 |
| TC | DOWN | ENST00000581607.1 | SEPTIN4-218:protein_coding:SEPTIN4 | 3.873190e+01 | -1.083150e+00 | 4.194161e-13 | 1.737747e-10 |
| TC | DOWN | ENST00000583273.5 | SEPTIN4-225:retained_intron:SEPTIN4 | 1.174636e+03 | -1.051700e+00 | 5.342186e-13 | 2.136191e-10 |
| TC | DOWN | ENST00000578131.5 | SEPTIN4-210:nonsense_mediated_decay:SEPTIN4 | 9.504999e+02 | -1.094996e+00 | 8.122039e-13 | 3.060918e-10 |
| TC | DOWN | ENST00000582270.5 | SEPTIN4-222:retained_intron:SEPTIN4 | 4.745606e+02 | -8.899671e-01 | 5.241499e-10 | 7.670210e-08 |
| TC | DOWN | ENST00000426861.5 | SEPTIN4-206:protein_coding:SEPTIN4 | 4.060656e+02 | -9.831159e-01 | 1.977325e-09 | 2.310900e-07 |
| TC | DOWN | ENST00000582248.1 | SEPTIN4-221:retained_intron:SEPTIN4 | 5.451044e+01 | -1.201208e+00 | 5.666797e-09 | 5.611294e-07 |
| TC | DOWN | ENST00000577440.5 | SEPTIN4-208:retained_intron:SEPTIN4 | 6.343574e+02 | -9.017926e-01 | 3.292145e-06 | 1.067297e-04 |
| TC | DOWN | ENST00000581615.5 | SEPTIN4-219:nonsense_mediated_decay:SEPTIN4 | 3.809594e+01 | -9.614659e-01 | 1.909326e-05 | 4.319725e-04 |
| TC | DOWN | ENST00000577729.5 | SEPTIN4-209:protein_coding:SEPTIN4 | 8.216122e+00 | -9.154948e-01 | 3.299923e-04 | 4.140888e-03 |
| TC | DOWN | ENST00000579371.5 | SEPTIN4-212:protein_coding:SEPTIN4 | 1.356825e+01 | -8.889844e-01 | 5.006874e-03 | 3.356526e-02 |
| 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 SEPTIN4 |
| 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_102913 | chr17 | 58521114:58521160:58521254:58521350:58521545:58521559 | 58521254:58521350 |
| exon_skip_104325 | chr17 | 58520743:58520842:58520998:58521160:58521254:58521350 | 58520998:58521160 |
| exon_skip_106601 | chr17 | 58522051:58522101:58525078:58525201:58525695:58525781 | 58525078:58525201 |
| exon_skip_107141 | chr17 | 58520426:58520485:58520743:58520842:58520998:58521160 | 58520743:58520842 |
| exon_skip_117891 | chr17 | 58526220:58526313:58526932:58526978:58531961:58531970 | 58526932:58526978 |
| exon_skip_121545 | chr17 | 58526220:58526313:58526932:58526978:58531961:58532037 | 58526932:58526978 |
| exon_skip_143329 | chr17 | 58521254:58521350:58521545:58521646:58521736:58521831 | 58521545:58521646 |
| exon_skip_143785 | chr17 | 58526936:58526978:58531480:58531551:58531961:58532037 | 58531480:58531551 |
| exon_skip_143917 | chr17 | 58526220:58526313:58526767:58526978:58529115:58529193 | 58526767:58526978 |
| exon_skip_148085 | chr17 | 58521314:58521350:58521545:58521646:58521736:58521853 | 58521545:58521646 |
| exon_skip_157752 | chr17 | 58526220:58526313:58526682:58526978:58529115:58529193 | 58526682:58526978 |
| exon_skip_164785 | chr17 | 58522080:58522101:58525078:58525201:58525695:58525781 | 58525078:58525201 |
| exon_skip_166817 | chr17 | 58526932:58526978:58531480:58531551:58531961:58531970 | 58531480:58531551 |
| exon_skip_176240 | chr17 | 58526220:58526313:58526682:58526978:58529115:58529127 | 58526682:58526978 |
| exon_skip_176529 | chr17 | 58526220:58526313:58526767:58526978:58529115:58529127 | 58526767:58526978 |
| exon_skip_18243 | chr17 | 58526220:58526313:58526682:58526978:58529115:58529203 | 58526682:58526978 |
| exon_skip_183778 | chr17 | 58526220:58526313:58526932:58526978:58529115:58529193 | 58526932:58526978 |
| exon_skip_197489 | chr17 | 58521254:58521350:58521545:58521646:58521736:58521850 | 58521545:58521646 |
| exon_skip_206621 | chr17 | 58520998:58521160:58521254:58521350:58521545:58521646 | 58521254:58521350 |
| exon_skip_21451 | chr17 | 58520426:58520485:58520743:58520789:58520998:58521095 | 58520743:58520789 |
| exon_skip_222335 | chr17 | 58526220:58526313:58526932:58526978:58529115:58529203 | 58526932:58526978 |
| exon_skip_231750 | chr17 | 58526220:58526313:58531480:58531551:58531961:58531970 | 58531480:58531551 |
| exon_skip_236415 | chr17 | 58526315:58526410:58526682:58526978:58531961:58532037 | 58526682:58526978 |
| exon_skip_236651 | chr17 | 58521114:58521160:58521254:58521350:58521545:58521646 | 58521254:58521350 |
| exon_skip_240073 | chr17 | 58521287:58521350:58521545:58521646:58521736:58521831 | 58521545:58521646 |
| exon_skip_242116 | chr17 | 58526220:58526313:58526682:58526978:58531961:58532037 | 58526682:58526978 |
| exon_skip_257627 | chr17 | 58526220:58526313:58526932:58526978:58529115:58529127 | 58526932:58526978 |
| exon_skip_266765 | chr17 | 58520426:58520485:58520743:58520789:58520998:58521160 | 58520743:58520789 |
| exon_skip_287537 | chr17 | 58526220:58526313:58526682:58526978:58531480:58531551 | 58526682:58526978 |
| exon_skip_287680 | chr17 | 58526220:58526313:58531480:58531551:58531961:58532037 | 58531480:58531551 |
| exon_skip_37373 | chr17 | 58521114:58521160:58521254:58521350:58521545:58521588 | 58521254:58521350 |
| exon_skip_37793 | chr17 | 58520426:58520485:58520743:58520842:58520998:58521095 | 58520743:58520842 |
| exon_skip_39738 | chr17 | 58526220:58526313:58526682:58526978:58531961:58531970 | 58526682:58526978 |
| exon_skip_56800 | chr17 | 58521254:58521350:58521545:58521646:58521736:58521853 | 58521545:58521646 |
| exon_skip_63222 | chr17 | 58526220:58526313:58526682:58526978:58527826:58527981 | 58526682:58526978 |
| exon_skip_83978 | chr17 | 58526220:58526313:58526767:58526978:58529115:58529203 | 58526767:58526978 |
| exon_skip_93683 | chr17 | 58521545:58521646:58521736:58521853:58521967:58522101 | 58521736:58521853 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_143917 | Mayo_TC | 6.500000e-01 | 7.528125e-01 | -1.028125e-01 | 1.322981e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for SEPTIN4 |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SEPTIN4 |
p-ENSG00000108387_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SEPTIN4 |
| 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 |
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SNVs in the skipped exons for SEPTIN4 |
| - 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 SEPTIN4 |
| 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 SEPTIN4 |
| 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 SEPTIN4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SEPTIN4 |
| 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 SEPTIN4 |
| 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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