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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 SGCE |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for SGCE |
| 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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ENSG00000127990
| 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 |
| CB | UP | ENST00000642169.1 | SGCE-211:nonsense_mediated_decay:SGCE | 1.430552e+00 | 2.507543e+00 | 4.495299e-06 | 5.357442e-05 |
| CB | UP | ENST00000437425.7 | SGCE-204:protein_coding:SGCE | 4.807529e+01 | 1.737500e+00 | 1.133972e-04 | 8.234752e-04 |
| CB | DOWN | ENST00000645665.1 | SGCE-269:retained_intron:SGCE | 2.500247e+01 | -1.110444e+00 | 1.444275e-04 | 1.012758e-03 |
| CB | DOWN | ENST00000645804.1 | SGCE-272:protein_coding:SGCE | 9.666604e+00 | -2.545778e+00 | 9.311752e-04 | 4.863823e-03 |
| CB | UP | ENST00000643368.1 | SGCE-234:lncRNA:SGCE | 1.674779e+00 | 8.562838e-01 | 4.057328e-03 | 1.656084e-02 |
| CB | UP | ENST00000646761.1 | SGCE-285:retained_intron:SGCE | 7.393933e+00 | 8.039508e-01 | 6.188783e-03 | 2.345815e-02 |
| TC | DOWN | ENST00000645804.1 | SGCE-272:protein_coding:SGCE | 4.740464e+00 | -3.808845e+00 | 4.753299e-04 | 5.528875e-03 |
| TC | DOWN | ENST00000645665.1 | SGCE-269:retained_intron:SGCE | 1.069228e+01 | -1.436835e+00 | 7.477667e-04 | 7.894681e-03 |
| TC | DOWN | ENST00000642802.1 | SGCE-222:retained_intron:SGCE | 2.943184e+01 | -8.262471e-01 | 2.116029e-03 | 1.750602e-02 |
| TC | UP | ENST00000437425.7 | SGCE-204:protein_coding:SGCE | 2.497797e+01 | 2.061427e+00 | 2.470546e-03 | 1.969735e-02 |
| TC | UP | ENST00000646098.1 | SGCE-274:protein_coding:SGCE | 6.563899e+01 | 9.905233e-01 | 6.229070e-03 | 3.944236e-02 |
| TC | UP | ENST00000643368.1 | SGCE-234:lncRNA:SGCE | 8.962305e-01 | 9.116441e-01 | 7.950989e-03 | 4.729995e-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 SGCE |
| 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_101717 | chr7 | 94621849:94621995:94622546:94622626:94623325:94623350 | 94622546:94622626 |
| exon_skip_112609 | chr7 | 94588689:94588732:94598775:94598963:94599697:94599723 | 94598775:94598963 |
| exon_skip_114298 | chr7 | 94618808:94618956:94623325:94623397:94628202:94628272 | 94623325:94623397 |
| exon_skip_124508 | chr7 | 94588689:94588732:94597749:94598004:94598775:94598963 | 94597749:94598004 |
| exon_skip_140338 | chr7 | 94598944:94598963:94599327:94599400:94599697:94599723 | 94599327:94599400 |
| exon_skip_148694 | chr7 | 94603290:94603452:94618758:94618935:94623325:94623397 | 94618758:94618935 |
| exon_skip_151405 | chr7 | 94628202:94628359:94629719:94629841:94644606:94644667 | 94629719:94629841 |
| exon_skip_167873 | chr7 | 94588689:94588732:94597930:94598004:94598775:94598963 | 94597930:94598004 |
| exon_skip_175170 | chr7 | 94629719:94629841:94639341:94639448:94644606:94644615 | 94639341:94639448 |
| exon_skip_192306 | chr7 | 94585399:94585515:94588689:94588732:94598775:94598963 | 94588689:94588732 |
| exon_skip_192375 | chr7 | 94598944:94598963:94599697:94599723:94600646:94600674 | 94599697:94599723 |
| exon_skip_197262 | chr7 | 94588708:94588732:94597930:94598004:94598775:94598820 | 94597930:94598004 |
| exon_skip_197947 | chr7 | 94618808:94618956:94622516:94622626:94623325:94623350 | 94622516:94622626 |
| exon_skip_201502 | chr7 | 94618808:94618956:94622516:94622626:94623325:94623397 | 94622516:94622626 |
| exon_skip_204777 | chr7 | 94618758:94618956:94622516:94622626:94623325:94623350 | 94622516:94622626 |
| exon_skip_206128 | chr7 | 94585294:94585515:94587778:94587809:94588689:94588732 | 94587778:94587809 |
| exon_skip_212354 | chr7 | 94603290:94603452:94618758:94618932:94623325:94623397 | 94618758:94618932 |
| exon_skip_214488 | chr7 | 94585301:94585515:94587778:94587812:94588689:94588732 | 94587778:94587812 |
| exon_skip_221662 | chr7 | 94585399:94585515:94588689:94588732:94598775:94598820 | 94588689:94588732 |
| exon_skip_221669 | chr7 | 94618808:94618956:94623325:94624249:94628202:94628272 | 94623325:94624249 |
| exon_skip_22362 | chr7 | 94585230:94585515:94588689:94588732:94599697:94599723 | 94588689:94588732 |
| exon_skip_224402 | chr7 | 94585284:94585515:94587778:94588732:94598775:94598963 | 94587778:94588732 |
| exon_skip_237924 | chr7 | 94603290:94603452:94618758:94618956:94623325:94623397 | 94618758:94618956 |
| exon_skip_245303 | chr7 | 94588708:94588732:94597930:94598004:94598775:94598963 | 94597930:94598004 |
| exon_skip_245605 | chr7 | 94585284:94585515:94587778:94588732:94598775:94598820 | 94587778:94588732 |
| exon_skip_247690 | chr7 | 94618808:94618956:94621849:94621995:94623325:94623350 | 94621849:94621995 |
| exon_skip_25481 | chr7 | 94618808:94618956:94621849:94621995:94622546:94622626 | 94621849:94621995 |
| exon_skip_264107 | chr7 | 94618808:94618956:94622546:94622626:94623325:94623350 | 94622546:94622626 |
| exon_skip_267389 | chr7 | 94618808:94618956:94622546:94622626:94623325:94623397 | 94622546:94622626 |
| exon_skip_28314 | chr7 | 94628202:94628359:94629719:94629841:94644606:94644615 | 94629719:94629841 |
| exon_skip_284060 | chr7 | 94639341:94639448:94644606:94644667:94655990:94656096 | 94644606:94644667 |
| exon_skip_294118 | chr7 | 94588689:94588732:94597924:94598004:94598775:94598820 | 94597924:94598004 |
| exon_skip_29556 | chr7 | 94588708:94588732:94597749:94598004:94598775:94598963 | 94597749:94598004 |
| exon_skip_40247 | chr7 | 94588708:94588732:94598775:94598963:94599697:94599723 | 94598775:94598963 |
| exon_skip_40453 | chr7 | 94628202:94628359:94629719:94629841:94639341:94639448 | 94629719:94629841 |
| exon_skip_47506 | chr7 | 94598775:94598963:94599327:94599400:94599697:94599723 | 94599327:94599400 |
| exon_skip_49658 | chr7 | 94598936:94598963:94599327:94599400:94599697:94599723 | 94599327:94599400 |
| exon_skip_50142 | chr7 | 94585410:94585515:94587778:94587849:94588689:94588732 | 94587778:94587849 |
| exon_skip_52050 | chr7 | 94628202:94628359:94629719:94629841:94655990:94656045 | 94629719:94629841 |
| exon_skip_53915 | chr7 | 94629719:94629841:94639341:94639448:94655990:94656096 | 94639341:94639448 |
| exon_skip_56491 | chr7 | 94623325:94623397:94629719:94629841:94655990:94656147 | 94629719:94629841 |
| exon_skip_61078 | chr7 | 94588689:94588732:94597924:94598004:94598775:94598963 | 94597924:94598004 |
| exon_skip_615 | chr7 | 94588689:94588732:94594432:94594546:94598775:94598963 | 94594432:94594546 |
| exon_skip_67001 | chr7 | 94627059:94628359:94644606:94644667:94655990:94656165 | 94644606:94644667 |
| exon_skip_67841 | chr7 | 94598936:94598963:94599697:94599723:94600646:94600674 | 94599697:94599723 |
| exon_skip_7551 | chr7 | 94623325:94623397:94628202:94628359:94629719:94629841 | 94628202:94628359 |
| exon_skip_75893 | chr7 | 94629719:94629841:94644606:94644667:94655990:94656096 | 94644606:94644667 |
| exon_skip_75910 | chr7 | 94588708:94588732:94594432:94594546:94598775:94598820 | 94594432:94594546 |
| exon_skip_90479 | chr7 | 94618808:94618956:94621849:94621995:94623325:94623397 | 94621849:94621995 |
| 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_214488 | MSBB_PG | 2.262044e-01 | 3.977358e-01 | -1.715315e-01 | 3.838777e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for SGCE |
| 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 SGCE |
p-ENSG00000127990_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 SGCE |
| 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 SGCE |
| - 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 SGCE |
| 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 |
| ADstage | ROSMAP | PCC | exon_skip_67841 | 3.076968e-01 | 4.280000e-06 | chr7 | - | 94598936 | 94598963 | 94599697 | 94599723 | 94600646 | 94600674 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SGCE |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_224402 | rs17166421 | chr7:94673822 | 3.376514e-04 | 2.485193e-02 |
| HCC | exon_skip_224402 | rs10263559 | chr7:94577403 | 5.131068e-04 | 3.463866e-02 |
| HCC | exon_skip_224402 | rs10241344 | chr7:94624964 | 6.234459e-04 | 4.033081e-02 |
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Correlation with RNA binding proteins (RBPs) for SGCE |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_214488 | 4.138797e-01 | 5.867051e-08 |
| CB | FUBP1 | exon_skip_52050 | -4.722974e-01 | 5.493322e-10 |
| CB | PTBP1 | exon_skip_52050 | -4.834112e-01 | 1.874633e-10 |
| CB | HNRNPF | exon_skip_52050 | -4.084546e-01 | 1.320181e-07 |
| DLPFC | ENOX1 | exon_skip_67841 | -4.100066e-01 | 2.945904e-15 |
| DLPFC | SRSF2 | exon_skip_214488 | 4.968545e-01 | 1.165455e-22 |
| DLPFC | ZNF638 | exon_skip_214488 | 4.459294e-01 | 4.586519e-18 |
| DLPFC | SNRPA | exon_skip_214488 | 4.012305e-01 | 1.275307e-14 |
| DLPFC | RALYL | exon_skip_214488 | 6.620304e-01 | 2.275518e-44 |
| DLPFC | SRSF9 | exon_skip_214488 | 4.363604e-01 | 2.769002e-17 |
| FL | SRSF2 | exon_skip_214488 | 4.356192e-01 | 2.702716e-10 |
| FL | RALYL | exon_skip_214488 | 5.582594e-01 | 3.999108e-17 |
| FL | SRSF9 | exon_skip_214488 | 4.277353e-01 | 6.088075e-10 |
| FL | ENOX1 | exon_skip_67841 | -4.077918e-01 | 3.276178e-09 |
| FL | NUP42 | exon_skip_67841 | -4.370976e-01 | 1.672120e-10 |
| FL | HNRNPL | exon_skip_67841 | -5.044912e-01 | 5.495476e-14 |
| FL | SRSF9 | exon_skip_67841 | -5.313304e-01 | 1.335170e-15 |
| FL | SART3 | exon_skip_67841 | -4.070584e-01 | 3.516705e-09 |
| HCC | RBM5 | exon_skip_214488 | -4.696594e-01 | 2.498987e-16 |
| HCC | RALYL | exon_skip_214488 | 4.955876e-01 | 2.894926e-18 |
| HCC | PABPN1 | exon_skip_67841 | 4.199754e-01 | 4.322479e-13 |
| HCC | HNRNPA2B1 | exon_skip_67841 | 4.156900e-01 | 7.858393e-13 |
| HCC | RBMS2 | exon_skip_53915 | 4.586915e-01 | 1.662411e-15 |
| HCC | KHDRBS3 | exon_skip_53915 | 4.148528e-01 | 1.069527e-12 |
| HCC | PTBP1 | exon_skip_53915 | 5.153421e-01 | 8.709115e-20 |
| IFG | RALYL | exon_skip_214488 | 4.926706e-01 | 7.732999e-03 |
| PCC | RALYL | exon_skip_206128 | 4.426788e-01 | 9.886344e-12 |
| PCC | RALYL | exon_skip_214488 | 6.066646e-01 | 5.298932e-23 |
| PG | RALYL | exon_skip_206128 | 4.309769e-01 | 2.122767e-09 |
| PG | SRSF2 | exon_skip_214488 | 4.045670e-01 | 7.072710e-09 |
| PG | RALYL | exon_skip_214488 | 6.695695e-01 | 4.508917e-26 |
| STG | SRSF2 | exon_skip_214488 | 4.202010e-01 | 5.628081e-05 |
| STG | RALYL | exon_skip_214488 | 6.762531e-01 | 8.984535e-13 |
| STG | SRSF9 | exon_skip_214488 | 4.547022e-01 | 1.092177e-05 |
| TC | RALYL | exon_skip_214488 | 8.193320e-01 | 5.173681e-40 |
| TC | RBMS2 | exon_skip_245605 | -4.155422e-01 | 5.655711e-08 |
| TC | ELAVL4 | exon_skip_245605 | 5.449513e-01 | 1.336313e-13 |
| TC | KHDRBS2 | exon_skip_245605 | 5.436388e-01 | 1.569241e-13 |
| TC | RBM24 | exon_skip_245605 | 4.986175e-01 | 2.606431e-11 |
| TC | NUP42 | exon_skip_245605 | 4.712146e-01 | 4.138456e-10 |
| TC | RALYL | exon_skip_245605 | 5.703505e-01 | 5.172040e-15 |
| TC | PTBP1 | exon_skip_245605 | -4.816136e-01 | 1.491475e-10 |
| TC | NOVA1 | exon_skip_245605 | 4.892932e-01 | 6.864704e-11 |
| TC | RBM3 | exon_skip_192375 | -4.129941e-01 | 5.721269e-08 |
| TC | RALYL | exon_skip_53915 | -4.419034e-01 | 6.152203e-09 |
| TC | NOVA1 | exon_skip_53915 | -4.316748e-01 | 1.488230e-08 |
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RelatedDrugs for SGCE |
| 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 SGCE |
| 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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