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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 SLC38A2 |
 Gene summary |
| Gene information | Gene symbol | SLC38A2 | Gene ID | 54407 |
| Gene name | solute carrier family 38 member 2 | |
| Synonyms | ATA2|PRO1068|SAT2|SNAT2 | |
| Cytomap | 12q13.11 | |
| Type of gene | protein-coding | |
| Description | sodium-coupled neutral amino acid transporter 2amino acid transporter 2amino acid transporter A2protein 40-9-1system A amino acid transporter 2system A transporter 1system N amino acid transporter 2 | |
| 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 SLC38A2 |
| 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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ENSG00000134294
| 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 |
| CB | UP | 1.113879e+04 | 9.587049e-01 | 2.818080e-19 | 7.279620e-16 |
| TC | UP | 8.211202e+03 | 9.776223e-01 | 1.516987e-20 | 1.382053e-17 |
| 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 | UP | ENST00000551374.5 | SLC38A2-209:protein_coding:SLC38A2 | 3.301556e+01 | 1.272518e+00 | 1.727100e-04 | 8.480059e-03 |
| HCC | UP | ENST00000553252.1 | SLC38A2-213:retained_intron:SLC38A2 | 1.030282e+01 | 8.516778e-01 | 2.082150e-05 | 2.392624e-03 |
| CB | UP | ENST00000553252.1 | SLC38A2-213:retained_intron:SLC38A2 | 1.639884e+01 | 1.483421e+00 | 4.389265e-19 | 1.401359e-15 |
| CB | UP | ENST00000552414.1 | SLC38A2-211:retained_intron:SLC38A2 | 2.279867e+01 | 1.795445e+00 | 4.270030e-18 | 7.647729e-15 |
| CB | UP | ENST00000548785.1 | SLC38A2-206:retained_intron:SLC38A2 | 3.103475e+01 | 1.573777e+00 | 2.655881e-17 | 3.250445e-14 |
| CB | UP | ENST00000548870.5 | SLC38A2-207:lncRNA:SLC38A2 | 3.169101e+01 | 1.394768e+00 | 6.279760e-13 | 1.009049e-10 |
| CB | UP | ENST00000552703.1 | SLC38A2-212:retained_intron:SLC38A2 | 8.755567e+00 | 1.434418e+00 | 4.676916e-11 | 3.363715e-09 |
| CB | UP | ENST00000548236.5 | SLC38A2-205:retained_intron:SLC38A2 | 2.451609e+01 | 1.619512e+00 | 7.465976e-11 | 4.956976e-09 |
| CB | UP | ENST00000551374.5 | SLC38A2-209:protein_coding:SLC38A2 | 1.415295e+02 | 1.658429e+00 | 1.750290e-10 | 1.012824e-08 |
| CB | UP | ENST00000546520.1 | SLC38A2-202:retained_intron:SLC38A2 | 1.364653e+01 | 1.282999e+00 | 9.621446e-10 | 4.242102e-08 |
| CB | UP | ENST00000549258.5 | SLC38A2-208:nonsense_mediated_decay:SLC38A2 | 4.227655e+02 | 1.662447e+00 | 5.007243e-09 | 1.684342e-07 |
| CB | UP | ENST00000551405.1 | SLC38A2-210:lncRNA:SLC38A2 | 3.027061e+00 | 1.451158e+00 | 4.728061e-07 | 7.938516e-06 |
| CB | UP | ENST00000547252.5 | SLC38A2-203:lncRNA:SLC38A2 | 4.019301e+00 | 1.180016e+00 | 2.803854e-05 | 2.518102e-04 |
| TC | UP | ENST00000256689.10 | SLC38A2-201:protein_coding:SLC38A2 | 7.746875e+03 | 9.393612e-01 | 3.892390e-20 | 1.049846e-16 |
| TC | UP | ENST00000548870.5 | SLC38A2-207:lncRNA:SLC38A2 | 1.841682e+01 | 1.416748e+00 | 8.782510e-15 | 6.163709e-12 |
| TC | UP | ENST00000548236.5 | SLC38A2-205:retained_intron:SLC38A2 | 7.967876e+00 | 1.715863e+00 | 2.988898e-13 | 1.302306e-10 |
| TC | UP | ENST00000552414.1 | SLC38A2-211:retained_intron:SLC38A2 | 7.643088e+00 | 1.466746e+00 | 2.505045e-12 | 8.032262e-10 |
| TC | UP | ENST00000548785.1 | SLC38A2-206:retained_intron:SLC38A2 | 1.227283e+01 | 1.083854e+00 | 7.189283e-12 | 1.985801e-09 |
| TC | UP | ENST00000551405.1 | SLC38A2-210:lncRNA:SLC38A2 | 3.830716e+00 | 1.618284e+00 | 3.068927e-10 | 4.943201e-08 |
| TC | UP | ENST00000551374.5 | SLC38A2-209:protein_coding:SLC38A2 | 4.687379e+01 | 1.440217e+00 | 6.016152e-10 | 8.657639e-08 |
| TC | UP | ENST00000553252.1 | SLC38A2-213:retained_intron:SLC38A2 | 8.447979e+00 | 9.869705e-01 | 5.468878e-09 | 5.459194e-07 |
| TC | UP | ENST00000546520.1 | SLC38A2-202:retained_intron:SLC38A2 | 5.536538e+00 | 1.123076e+00 | 1.037350e-08 | 9.271847e-07 |
| TC | UP | ENST00000552703.1 | SLC38A2-212:retained_intron:SLC38A2 | 3.351636e+00 | 1.401314e+00 | 4.008108e-08 | 2.876052e-06 |
| TC | UP | ENST00000549258.5 | SLC38A2-208:nonsense_mediated_decay:SLC38A2 | 1.080144e+02 | 1.312447e+00 | 5.396762e-08 | 3.696997e-06 |
| TC | UP | ENST00000547252.5 | SLC38A2-203:lncRNA:SLC38A2 | 2.917206e+00 | 1.320010e+00 | 8.552524e-07 | 3.548872e-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 SLC38A2 |
| 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_148738 | chr12 | 46362494:46362638:46363021:46363145:46363726:46363826 | 46363021:46363145 |
| exon_skip_153436 | chr12 | 46365107:46365189:46366864:46366945:46367076:46367168 | 46366864:46366945 |
| exon_skip_294638 | chr12 | 46362494:46362638:46363021:46363145:46363726:46363820 | 46363021:46363145 |
| exon_skip_37131 | chr12 | 46370776:46370857:46371178:46371379:46372509:46372771 | 46371178:46371379 |
| exon_skip_57074 | chr12 | 46367267:46367340:46370512:46370627:46370776:46370789 | 46370512:46370627 |
| exon_skip_7751 | chr12 | 46364442:46364556:46364644:46364702:46365107:46365189 | 46364644:46364702 |
| 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 SLC38A2 |
| 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 |
| ENST00000256689 | 46363021 | 46363145 | Frame-shift |
| ENST00000256689 | 46366864 | 46366945 | Frame-shift |
| ENST00000256689 | 46370512 | 46370627 | 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 |
| ENST00000256689 | 46363021 | 46363145 | Frame-shift |
| ENST00000256689 | 46366864 | 46366945 | Frame-shift |
| ENST00000256689 | 46370512 | 46370627 | 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 |
| ENST00000256689 | 46363021 | 46363145 | Frame-shift |
| ENST00000256689 | 46364644 | 46364702 | Frame-shift |
| ENST00000256689 | 46366864 | 46366945 | Frame-shift |
| ENST00000256689 | 46370512 | 46370627 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SLC38A2 |
p-ENSG00000134294_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 SLC38A2 |
| 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 SLC38A2 |
| - 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 SLC38A2 |
| 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 SLC38A2 |
| 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 SLC38A2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | RBM3 | exon_skip_57074 | -4.202244e-01 | 8.622835e-08 |
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RelatedDrugs for SLC38A2 |
| 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 SLC38A2 |
| 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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