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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 SLC22A23 |
 Gene summary |
| Gene information | Gene symbol | SLC22A23 | Gene ID | 63027 |
| Gene name | solute carrier family 22 member 23 | |
| Synonyms | C6orf85 | |
| Cytomap | 6p25.2 | |
| Type of gene | protein-coding | |
| Description | solute carrier family 22 member 23ion transporter protein | |
| Modification date | 20180522 | |
| UniProtAcc | A1A5C7 | |
| Context | PubMed: SLC22A23 [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 SLC22A23 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 SLC22A23 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SLC22A23 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455890 | 6 | 3273589:3273646:3276914:3277210:3284085:3284209 | 3276914:3277210 | ENSG00000137266.10 | ENST00000482874.1 |
| exon_skip_455891 | 6 | 3273589:3273646:3284085:3284209:3285312:3285345 | 3284085:3284209 | ENSG00000137266.10 | ENST00000380302.4,ENST00000406686.3,ENST00000497691.1,ENST00000490273.1 |
| exon_skip_455896 | 6 | 3284107:3284209:3285169:3285193:3285312:3285345 | 3285169:3285193 | ENSG00000137266.10 | ENST00000436008.2 |
| exon_skip_455901 | 6 | 3284107:3284209:3285312:3285345:3287092:3287325 | 3285312:3285345 | ENSG00000137266.10 | ENST00000380302.4,ENST00000467177.1,ENST00000406686.3,ENST00000485307.1,ENST00000497691.1,ENST00000490273.1 |
| exon_skip_455902 | 6 | 3287217:3287325:3289997:3290100:3298324:3298452 | 3289997:3290100 | ENSG00000137266.10 | ENST00000380302.4,ENST00000467177.1,ENST00000467144.1,ENST00000406686.3,ENST00000485307.1,ENST00000436008.2,ENST00000497691.1,ENST00000490273.1 |
| exon_skip_455904 | 6 | 3298324:3298452:3323499:3323552:3324067:3324236 | 3323499:3323552 | ENSG00000137266.10 | ENST00000497691.1 |
| exon_skip_455905 | 6 | 3298324:3298452:3324067:3324236:3410421:3410576 | 3324067:3324236 | ENSG00000137266.10 | ENST00000380302.4,ENST00000467177.1,ENST00000406686.3,ENST00000485307.1,ENST00000436008.2,ENST00000490273.1 |
| exon_skip_455910 | 6 | 3324120:3324236:3410421:3410576:3415985:3416089 | 3410421:3410576 | ENSG00000137266.10 | ENST00000380302.4,ENST00000467177.1,ENST00000406686.3,ENST00000485307.1,ENST00000436008.2,ENST00000380298.2,ENST00000497691.1,ENST00000490273.1 |
| exon_skip_455915 | 6 | 3410421:3410576:3415985:3416089:3456139:3456277 | 3415985:3416089 | ENSG00000137266.10 | ENST00000406686.3,ENST00000485307.1,ENST00000380298.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC22A23 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455890 | 6 | 3273589:3273646:3276914:3277210:3284085:3284209 | 3276914:3277210 | ENSG00000137266.10 | ENST00000482874.1 |
| exon_skip_455891 | 6 | 3273589:3273646:3284085:3284209:3285312:3285345 | 3284085:3284209 | ENSG00000137266.10 | ENST00000406686.3,ENST00000497691.1,ENST00000380302.4,ENST00000490273.1 |
| exon_skip_455896 | 6 | 3284107:3284209:3285169:3285193:3285312:3285345 | 3285169:3285193 | ENSG00000137266.10 | ENST00000436008.2 |
| exon_skip_455901 | 6 | 3284107:3284209:3285312:3285345:3287092:3287325 | 3285312:3285345 | ENSG00000137266.10 | ENST00000406686.3,ENST00000497691.1,ENST00000380302.4,ENST00000490273.1,ENST00000485307.1,ENST00000467177.1 |
| exon_skip_455902 | 6 | 3287217:3287325:3289997:3290100:3298324:3298452 | 3289997:3290100 | ENSG00000137266.10 | ENST00000436008.2,ENST00000406686.3,ENST00000497691.1,ENST00000380302.4,ENST00000490273.1,ENST00000485307.1,ENST00000467177.1,ENST00000467144.1 |
| exon_skip_455904 | 6 | 3298324:3298452:3323499:3323552:3324067:3324236 | 3323499:3323552 | ENSG00000137266.10 | ENST00000497691.1 |
| exon_skip_455905 | 6 | 3298324:3298452:3324067:3324236:3410421:3410576 | 3324067:3324236 | ENSG00000137266.10 | ENST00000436008.2,ENST00000406686.3,ENST00000380302.4,ENST00000490273.1,ENST00000485307.1,ENST00000467177.1 |
| exon_skip_455910 | 6 | 3324120:3324236:3410421:3410576:3415985:3416089 | 3410421:3410576 | ENSG00000137266.10 | ENST00000436008.2,ENST00000406686.3,ENST00000497691.1,ENST00000380302.4,ENST00000490273.1,ENST00000485307.1,ENST00000467177.1,ENST00000380298.2 |
| exon_skip_455915 | 6 | 3410421:3410576:3415985:3416089:3456139:3456277 | 3415985:3416089 | ENSG00000137266.10 | ENST00000406686.3,ENST00000485307.1,ENST00000380298.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SLC22A23 |
| 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 |
| ENST00000406686 | 3284085 | 3284209 | Frame-shift |
| ENST00000406686 | 3289997 | 3290100 | Frame-shift |
| ENST00000406686 | 3324067 | 3324236 | Frame-shift |
| ENST00000406686 | 3410421 | 3410576 | Frame-shift |
| ENST00000406686 | 3415985 | 3416089 | Frame-shift |
| ENST00000406686 | 3285312 | 3285345 | In-frame |
| 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 |
| ENST00000406686 | 3284085 | 3284209 | Frame-shift |
| ENST00000406686 | 3289997 | 3290100 | Frame-shift |
| ENST00000406686 | 3324067 | 3324236 | Frame-shift |
| ENST00000406686 | 3410421 | 3410576 | Frame-shift |
| ENST00000406686 | 3415985 | 3416089 | Frame-shift |
| ENST00000406686 | 3285312 | 3285345 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC22A23 |
| 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 |
| ENST00000406686 | 5675 | 686 | 3285312 | 3285345 | 1547 | 1579 | 515 | 526 |
| 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 |
| ENST00000406686 | 5675 | 686 | 3285312 | 3285345 | 1547 | 1579 | 515 | 526 |
| 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 |
| A1A5C7 | 515 | 526 | 362 | 686 | Alternative sequence | ID=VSP_028956;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A1A5C7 | 515 | 526 | 1 | 686 | Chain | ID=PRO_0000308315;Note=Solute carrier family 22 member 23 |
| 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 |
| A1A5C7 | 515 | 526 | 362 | 686 | Alternative sequence | ID=VSP_028956;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A1A5C7 | 515 | 526 | 1 | 686 | Chain | ID=PRO_0000308315;Note=Solute carrier family 22 member 23 |
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SNVs in the skipped exons for SLC22A23 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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_455891 | 3284086 | 3284209 | 3284133 | 3284133 | Frame_Shift_Del | C | - | p.G560fs |
| HNSC | TCGA-BB-A5HY-01 | exon_skip_455902 | 3289998 | 3290100 | 3290057 | 3290058 | Frame_Shift_Ins | - | A | p.S418fs |
| UCEC | TCGA-AX-A06H-01 | exon_skip_455905 | 3324068 | 3324236 | 3324217 | 3324218 | Frame_Shift_Ins | - | G | p.P311fs |
| BLCA | TCGA-DK-A2I4-01 | exon_skip_455901 | 3285313 | 3285345 | 3285315 | 3285315 | Nonsense_Mutation | G | C | p.S526* |
| SKCM | TCGA-ER-A19E-06 | exon_skip_455902 | 3289998 | 3290100 | 3289998 | 3289998 | Nonsense_Mutation | G | T | p.S157X |
| STAD | TCGA-BR-8368-01 | exon_skip_455905 | 3324068 | 3324236 | 3324124 | 3324124 | Nonsense_Mutation | C | T | p.W342* |
| STAD | TCGA-BR-8368-01 | exon_skip_455905 | 3324068 | 3324236 | 3324124 | 3324124 | Nonsense_Mutation | C | T | p.W342X |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3324068 | 3324236 | 3324094 | 3324094 | Frame_Shift_Del | G | - | p.P352fs |
| MET2B | 3289998 | 3290100 | 3290066 | 3290068 | In_Frame_Del | CTT | - | p.K415del |
| HCC2157_BREAST | 3284086 | 3284209 | 3284138 | 3284138 | Missense_Mutation | C | T | p.V551M |
| HCC2157_MATCHED_NORMAL_TISSUE | 3284086 | 3284209 | 3284138 | 3284138 | Missense_Mutation | C | T | p.V551M |
| SNU1040_LARGE_INTESTINE | 3284086 | 3284209 | 3284164 | 3284164 | Missense_Mutation | A | G | p.I542T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3284086 | 3284209 | 3284173 | 3284173 | Missense_Mutation | G | A | p.A539V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3284086 | 3284209 | 3284177 | 3284177 | Missense_Mutation | T | C | p.I538V |
| SNU1040_LARGE_INTESTINE | 3289998 | 3290100 | 3290037 | 3290037 | Missense_Mutation | C | T | p.R425Q |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3289998 | 3290100 | 3290038 | 3290038 | Missense_Mutation | G | A | p.R425W |
| HCT15_LARGE_INTESTINE | 3289998 | 3290100 | 3290079 | 3290079 | Missense_Mutation | C | T | p.R411Q |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3324068 | 3324236 | 3324210 | 3324210 | Missense_Mutation | G | A | p.R314W |
| HT115_LARGE_INTESTINE | 3410422 | 3410576 | 3410488 | 3410488 | Missense_Mutation | A | G | p.F283L |
| EW3_BONE | 3410422 | 3410576 | 3410488 | 3410488 | Missense_Mutation | A | G | p.F283L |
| LS411N_LARGE_INTESTINE | 3410422 | 3410576 | 3410563 | 3410563 | Missense_Mutation | G | A | p.P258S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3415986 | 3416089 | 3416068 | 3416068 | Missense_Mutation | C | T | p.A226T |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3415986 | 3416089 | 3416068 | 3416068 | Missense_Mutation | C | T | p.A226T |
| IALM_LUNG | 3284086 | 3284209 | 3284209 | 3284209 | Splice_Site | C | T | p.G527E |
| SW684_SOFT_TISSUE | 3324068 | 3324236 | 3324235 | 3324236 | Splice_Site | TC | GT | p.R305H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC22A23 |
| 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 SLC22A23 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC22A23 |
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RelatedDrugs for SLC22A23 |
| 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 SLC22A23 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC22A23 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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