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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for SLC6A15 |
Gene summary |
| Gene information | Gene symbol | SLC6A15 | Gene ID | 55117 |
| Gene name | solute carrier family 6 member 15 | |
| Synonyms | NTT73|SBAT1|V7-3|hv7-3 | |
| Cytomap | 12q21.31 | |
| Type of gene | protein-coding | |
| Description | sodium-dependent neutral amino acid transporter B(0)AT2homolog of rat orphan transporter v7-3orphan sodium- and chloride-dependent neurotransmitter transporter NTT73orphan transporter v7-3sodium- and chloride-dependent neurotransmitter transporter NTT | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H2J7 | |
| Context | PubMed: SLC6A15 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SLC6A15 | GO:0015804 | neutral amino acid transport | 16226721 |
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Exon skipping events across known transcript of Ensembl for SLC6A15 from UCSC genome browser |
Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for SLC6A15 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SLC6A15 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95067 | 12 | 85264340:85264449:85266380:85266573:85266865:85267043 | 85266380:85266573 | ENSG00000072041.12 | ENST00000551818.1,ENST00000552192.1,ENST00000266682.5 |
| exon_skip_95069 | 12 | 85279689:85279847:85285610:85286087:85306301:85306484 | 85285610:85286087 | ENSG00000072041.12 | ENST00000450363.3,ENST00000266682.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC6A15 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95067 | 12 | 85264340:85264449:85266380:85266573:85266865:85267043 | 85266380:85266573 | ENSG00000072041.12 | ENST00000266682.5,ENST00000552192.1,ENST00000551818.1 |
| exon_skip_95069 | 12 | 85279689:85279847:85285610:85286087:85306301:85306484 | 85285610:85286087 | ENSG00000072041.12 | ENST00000266682.5,ENST00000450363.3 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SLC6A15 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000266682 | 85285610 | 85286087 | 3UTR-3CDS |
| ENST00000266682 | 85266380 | 85266573 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000266682 | 85285610 | 85286087 | 3UTR-3CDS |
| ENST00000266682 | 85266380 | 85266573 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SLC6A15 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for SLC6A15 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95067 | 85266381 | 85266573 | 85266401 | 85266401 | Frame_Shift_Del | T | - | p.I428fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95069 | 85285611 | 85286087 | 85285872 | 85285872 | Frame_Shift_Del | T | - | p.R10fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95069 | 85285611 | 85286087 | 85285872 | 85285872 | Frame_Shift_Del | T | - | p.R10fs |
| STAD | TCGA-CG-5723-01 | exon_skip_95069 | 85285611 | 85286087 | 85285889 | 85285889 | Frame_Shift_Del | T | - | p.N4fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_95069 | 85285611 | 85286087 | 85285889 | 85285889 | Frame_Shift_Del | T | - | p.N4fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_95067 | 85266381 | 85266573 | 85266440 | 85266440 | Nonsense_Mutation | C | A | p.E415X |
| STAD | TCGA-IN-A6RP-01 | exon_skip_95069 | 85285611 | 85286087 | 85285644 | 85285644 | Nonsense_Mutation | G | A | p.R86* |
| STAD | TCGA-IN-A6RP-01 | exon_skip_95069 | 85285611 | 85286087 | 85285644 | 85285644 | Nonsense_Mutation | G | A | p.R86X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_95069 | 85285611 | 85286087 | 85285788 | 85285788 | Nonsense_Mutation | C | A | p.E38* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_95069 | 85285611 | 85286087 | 85285788 | 85285788 | Nonsense_Mutation | C | A | p.E38X |
- Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
- 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 |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 85285611 | 85286087 | 85285715 | 85285715 | Frame_Shift_Del | G | - | p.P62fs |
| HEC1B_ENDOMETRIUM | 85285611 | 85286087 | 85285889 | 85285889 | Frame_Shift_Del | T | - | p.N4fs |
| NCIH1435_LUNG | 85266381 | 85266573 | 85266409 | 85266409 | Missense_Mutation | G | C | p.S425C |
| NCIH1573_LUNG | 85266381 | 85266573 | 85266437 | 85266437 | Missense_Mutation | C | G | p.E416Q |
| CAL148_BREAST | 85285611 | 85286087 | 85285728 | 85285728 | Missense_Mutation | C | T | p.E58K |
| SN12C_KIDNEY | 85285611 | 85286087 | 85285736 | 85285736 | Missense_Mutation | G | C | p.S55C |
| JHUEM7_ENDOMETRIUM | 85285611 | 85286087 | 85285869 | 85285869 | Nonsense_Mutation | C | A | p.E11* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC6A15 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC6A15 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC6A15 |
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RelatedDrugs for SLC6A15 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SLC6A15 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC6A15 | C0041696 | Unipolar Depression | 3 | PSYGENET |
| SLC6A15 | C1269683 | Major Depressive Disorder | 2 | PSYGENET |