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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 SSR1 |
 Gene summary |
| Gene information | Gene symbol | SSR1 | Gene ID | 6745 |
| Gene name | signal sequence receptor subunit 1 | |
| Synonyms | TRAPA | |
| Cytomap | 6p24.3 | |
| Type of gene | protein-coding | |
| Description | translocon-associated protein subunit alphaSSR alpha subunitSSR-alphaTRAP alphasignal sequence receptor subunit alphasignal sequence receptor, alphatranslocon-associated protein alpha subunit | |
| 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 |
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Gene structures and expression levels for SSR1 |
| 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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ENSG00000124783
| 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 | ENST00000489567.5 | SSR1-210:protein_coding:SSR1 | 4.724531e+01 | 1.084155e+00 | 1.546356e-04 | 3.785376e-03 |
| CB | UP | ENST00000479365.5 | SSR1-206:protein_coding:SSR1 | 6.342434e+00 | 2.295947e+00 | 4.556943e-04 | 2.663473e-03 |
| TC | UP | ENST00000479365.5 | SSR1-206:protein_coding:SSR1 | 1.102783e+01 | 2.934251e+00 | 1.286412e-07 | 7.526742e-06 |
| 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 SSR1 |
| 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_105715 | chr6 | 7298747:7298823:7301310:7301368:7303550:7303633 | 7301310:7301368 |
| exon_skip_147648 | chr6 | 7268938:7269154:7287862:7287922:7289868:7289931 | 7287862:7287922 |
| exon_skip_171929 | chr6 | 7289868:7289931:7295392:7295485:7297923:7298001 | 7295392:7295485 |
| exon_skip_174046 | chr6 | 7289870:7289931:7295392:7295485:7297923:7298001 | 7295392:7295485 |
| exon_skip_183986 | chr6 | 7289868:7289931:7295088:7295102:7295392:7295485 | 7295088:7295102 |
| exon_skip_23318 | chr6 | 7289870:7289931:7295088:7295102:7295392:7295485 | 7295088:7295102 |
| exon_skip_251461 | chr6 | 7301390:7301572:7303550:7303633:7309917:7310029 | 7303550:7303633 |
| exon_skip_258031 | chr6 | 7295392:7295485:7297923:7298001:7298747:7298823 | 7297923:7298001 |
| exon_skip_270984 | chr6 | 7301390:7301572:7303550:7303637:7309917:7310029 | 7303550:7303637 |
| exon_skip_36136 | chr6 | 7289676:7289931:7295385:7295485:7297923:7298001 | 7295385:7295485 |
| exon_skip_51399 | chr6 | 7298747:7298823:7301310:7301572:7303550:7303633 | 7301310:7301572 |
| exon_skip_93281 | chr6 | 7268938:7269154:7287862:7287922:7289683:7289850 | 7287862:7287922 |
| 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_183986 | MSBB_PG | 2.189437e-01 | 3.927273e-01 | -1.737836e-01 | 3.877306e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for SSR1 |
| 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 |
| ENST00000244763 | 7295392 | 7295485 | Frame-shift |
| ENST00000244763 | 7303550 | 7303637 | 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 |
| ENST00000244763 | 7295392 | 7295485 | Frame-shift |
| ENST00000244763 | 7301310 | 7301572 | 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 |
| ENST00000244763 | 7295392 | 7295485 | Frame-shift |
| ENST00000244763 | 7297923 | 7298001 | Frame-shift |
| ENST00000244763 | 7301310 | 7301572 | Frame-shift |
| ENST00000244763 | 7303550 | 7303637 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SSR1 |
p-ENSG00000124783_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 SSR1 |
| 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 SSR1 |
| - 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 SSR1 |
| 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 SSR1 |
| 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 SSR1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | KHDRBS3 | exon_skip_183986 | 4.218804e-01 | 1.022920e-15 |
| FL | SRSF2 | exon_skip_183986 | 4.934296e-01 | 2.011888e-13 |
| FL | MSI1 | exon_skip_183986 | -4.937349e-01 | 1.934450e-13 |
| FL | KHDRBS3 | exon_skip_183986 | 5.864553e-01 | 1.695483e-19 |
| HCC | MSI1 | exon_skip_23318 | -7.148626e-01 | 5.336197e-44 |
| HCC | PABPN1 | exon_skip_23318 | -5.526007e-01 | 3.139861e-23 |
| HCC | RBM28 | exon_skip_23318 | -5.057990e-01 | 3.871995e-19 |
| HCC | SRSF11 | exon_skip_23318 | -5.710897e-01 | 4.966039e-25 |
| HCC | RBM47 | exon_skip_23318 | -5.309178e-01 | 2.959889e-21 |
| HCC | TRA2A | exon_skip_23318 | -4.198891e-01 | 4.375212e-13 |
| HCC | KHDRBS3 | exon_skip_23318 | -5.377279e-01 | 7.353117e-22 |
| IFG | RBM47 | exon_skip_183986 | -6.966123e-01 | 3.824946e-05 |
| IFG | KHDRBS3 | exon_skip_183986 | 6.473012e-01 | 1.967931e-04 |
| PCC | MSI1 | exon_skip_183986 | -4.638578e-01 | 7.206501e-13 |
| PG | SRSF2 | exon_skip_183986 | 4.281299e-01 | 3.481866e-10 |
| PG | MSI1 | exon_skip_183986 | -5.250037e-01 | 2.381212e-15 |
| PG | KHDRBS3 | exon_skip_183986 | 6.087867e-01 | 2.302313e-21 |
| STG | SRSF2 | exon_skip_183986 | 4.482499e-01 | 1.189262e-05 |
| STG | MSI1 | exon_skip_183986 | -4.075068e-01 | 8.128820e-05 |
| STG | SRSF11 | exon_skip_183986 | 4.909841e-01 | 1.193381e-06 |
| STG | KHDRBS3 | exon_skip_183986 | 5.515255e-01 | 2.561941e-08 |
| TC | SRSF2 | exon_skip_183986 | 4.956546e-01 | 2.666638e-11 |
| TC | MSI1 | exon_skip_183986 | -4.012596e-01 | 1.452647e-07 |
| TC | KHDRBS3 | exon_skip_183986 | 7.442051e-01 | 1.728747e-29 |
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RelatedDrugs for SSR1 |
| 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 SSR1 |
| 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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