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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 SLC45A4 |
Gene summary |
| Gene information | Gene symbol | SLC45A4 | Gene ID | 57210 |
| Gene name | solute carrier family 45 member 4 | |
| Synonyms | - | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | solute carrier family 45 member 4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5BKX6 | |
| Context | PubMed: SLC45A4 [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 |
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Exon skipping events across known transcript of Ensembl for SLC45A4 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 SLC45A4 |
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 SLC45A4 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_493015 | 8 | 142225857:142226069:142227188:142227288:142228109:142229128 | 142227188:142227288 | ENSG00000022567.5 | ENST00000024061.3,ENST00000517878.1,ENST00000433583.2,ENST00000519067.1 |
| exon_skip_493017 | 8 | 142228872:142229128:142229748:142229928:142231675:142231864 | 142229748:142229928 | ENSG00000022567.5 | ENST00000024061.3,ENST00000517878.1,ENST00000433583.2,ENST00000520137.1,ENST00000519067.1 |
| exon_skip_493020 | 8 | 142229845:142229928:142231675:142231864:142264087:142264225 | 142231675:142231864 | ENSG00000022567.5 | ENST00000517878.1,ENST00000433583.2 |
| exon_skip_493022 | 8 | 142229845:142229928:142231675:142231864:142318194:142318391 | 142231675:142231864 | ENSG00000022567.5 | ENST00000520137.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC45A4 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_493015 | 8 | 142225857:142226069:142227188:142227288:142228109:142229128 | 142227188:142227288 | ENSG00000022567.5 | ENST00000519067.1,ENST00000517878.1,ENST00000433583.2,ENST00000024061.3 |
| exon_skip_493017 | 8 | 142228872:142229128:142229748:142229928:142231675:142231864 | 142229748:142229928 | ENSG00000022567.5 | ENST00000519067.1,ENST00000517878.1,ENST00000433583.2,ENST00000024061.3,ENST00000520137.1 |
| exon_skip_493020 | 8 | 142229845:142229928:142231675:142231864:142264087:142264225 | 142231675:142231864 | ENSG00000022567.5 | ENST00000517878.1,ENST00000433583.2 |
| exon_skip_493022 | 8 | 142229845:142229928:142231675:142231864:142318194:142318391 | 142231675:142231864 | ENSG00000022567.5 | ENST00000520137.1 |
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 SLC45A4 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for SLC45A4 |
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 SLC45A4 |
- 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-DD-A39Y-01 | exon_skip_493015 | 142227189 | 142227288 | 142227236 | 142227236 | Frame_Shift_Del | C | - | p.G510fs |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_493015 | 142227189 | 142227288 | 142227281 | 142227281 | Nonsense_Mutation | G | T | p.S495* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_493015 | 142227189 | 142227288 | 142227281 | 142227281 | Nonsense_Mutation | G | T | p.S495X |
| ESCA | TCGA-RE-A7BO-01 | exon_skip_493022 exon_skip_493020 | 142231676 | 142231864 | 142231845 | 142231845 | Nonsense_Mutation | G | T | p.Y36X |
| ESCA | TCGA-RE-A7BO-01 | exon_skip_493022 exon_skip_493020 | 142231676 | 142231864 | 142231845 | 142231845 | Nonsense_Mutation | G | T | p.Y87* |
| PAAD | TCGA-IB-7651-01 | exon_skip_493015 | 142227189 | 142227288 | 142227289 | 142227289 | Splice_Site | C | T | . |
- 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 142229749 | 142229928 | 142229828 | 142229828 | Frame_Shift_Del | C | - | p.G126fs |
| SNU1_STOMACH | 142227189 | 142227288 | 142227219 | 142227219 | Missense_Mutation | T | C | p.I516V |
| CW2_LARGE_INTESTINE | 142227189 | 142227288 | 142227284 | 142227284 | Missense_Mutation | G | T | p.P494H |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 142229749 | 142229928 | 142229814 | 142229814 | Missense_Mutation | T | C | p.Y131C |
| FTC238_THYROID | 142229749 | 142229928 | 142229814 | 142229814 | Missense_Mutation | T | C | p.Y131C |
| CW2_LARGE_INTESTINE | 142229749 | 142229928 | 142229857 | 142229857 | Missense_Mutation | G | T | p.L117M |
| GAK_SKIN | 142231676 | 142231864 | 142231702 | 142231702 | Missense_Mutation | G | T | p.A84E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC45A4 |
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 SLC45A4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC45A4 |
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RelatedDrugs for SLC45A4 |
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 SLC45A4 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |