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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 SLC9A3 |
 Gene summary |
| Gene information | Gene symbol | SLC9A3 | Gene ID | 6550 |
| Gene name | solute carrier family 9 member A3 | |
| Synonyms | DIAR8|NHE-3|NHE3 | |
| Cytomap | 5p15.33 | |
| Type of gene | protein-coding | |
| Description | sodium/hydrogen exchanger 3Na(+)/H(+) exchanger 3solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9 (sodium/hydrogen exchanger), member 3solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 | |
| Modification date | 20180523 | |
| UniProtAcc | P48764 | |
| Context | PubMed: SLC9A3 [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 |
| SLC9A3 | GO:0098719 | sodium ion import across plasma membrane | 26358773 |
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Exon skipping events across known transcript of Ensembl for SLC9A3 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 SLC9A3 |
| 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 SLC9A3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_440513 | 5 | 473475:473497:474997:475247:475675:475786 | 474997:475247 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440517 | 5 | 474997:475247:475675:475786:476134:476207 | 475675:475786 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440518 | 5 | 475675:475786:476134:476207:476316:476419 | 476134:476207 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440519 | 5 | 476657:476787:477446:477559:479950:480080 | 477446:477559 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440526 | 5 | 483376:483597:484634:484812:485267:485346 | 484634:484812 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC9A3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_440513 | 5 | 473475:473497:474997:475247:475675:475786 | 474997:475247 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440517 | 5 | 474997:475247:475675:475786:476134:476207 | 475675:475786 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440518 | 5 | 475675:475786:476134:476207:476316:476419 | 476134:476207 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| exon_skip_440519 | 5 | 476657:476787:477446:477559:479950:480080 | 477446:477559 | ENSG00000066230.6 | ENST00000264938.3,ENST00000514375.1 |
| 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 SLC9A3 |
| 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 |
| ENST00000264938 | 474997 | 475247 | Frame-shift |
| ENST00000264938 | 476134 | 476207 | Frame-shift |
| ENST00000264938 | 477446 | 477559 | Frame-shift |
| ENST00000264938 | 484634 | 484812 | Frame-shift |
| ENST00000264938 | 475675 | 475786 | 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 |
| ENST00000264938 | 474997 | 475247 | Frame-shift |
| ENST00000264938 | 476134 | 476207 | Frame-shift |
| ENST00000264938 | 477446 | 477559 | Frame-shift |
| ENST00000264938 | 475675 | 475786 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC9A3 |
| 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 |
| ENST00000264938 | 2601 | 834 | 475675 | 475786 | 2151 | 2261 | 713 | 750 |
| 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 |
| ENST00000264938 | 2601 | 834 | 475675 | 475786 | 2151 | 2261 | 713 | 750 |
| 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 |
| P48764 | 713 | 750 | 1 | 834 | Chain | ID=PRO_0000052356;Note=Sodium/hydrogen exchanger 3 |
| P48764 | 713 | 750 | 457 | 834 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P48764 | 713 | 750 | 1 | 834 | Chain | ID=PRO_0000052356;Note=Sodium/hydrogen exchanger 3 |
| P48764 | 713 | 750 | 457 | 834 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC9A3 |
| - 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-A3A0-01 | exon_skip_440513 | 474998 | 475247 | 475024 | 475024 | Frame_Shift_Del | G | - | p.P825fs |
| BRCA | TCGA-BH-A0HW-01 | exon_skip_440517 | 475676 | 475786 | 475689 | 475689 | Frame_Shift_Del | G | - | p.D747fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_440517 | 475676 | 475786 | 475755 | 475755 | Frame_Shift_Del | G | - | p.P724fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_440517 | 475676 | 475786 | 475755 | 475755 | Frame_Shift_Del | G | - | p.P724fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_440526 | 484635 | 484812 | 484771 | 484771 | Frame_Shift_Del | C | - | p.V267fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_440526 | 484635 | 484812 | 484785 | 484785 | Frame_Shift_Del | C | - | p.G261fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_440526 | 484635 | 484812 | 484785 | 484785 | Frame_Shift_Del | C | - | p.G261fs |
| PRAD | TCGA-YL-A8SF-01 | exon_skip_440517 | 475676 | 475786 | 475733 | 475734 | Frame_Shift_Ins | - | A | p.R731fs |
| COAD | TCGA-AA-A00A-01 | exon_skip_440517 | 475676 | 475786 | 475754 | 475755 | Frame_Shift_Ins | - | G | p.N725fs |
| BLCA | TCGA-GV-A3JV-01 | exon_skip_440526 | 484635 | 484812 | 484634 | 484634 | Splice_Site | C | T | p.A311_splice |
| - 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 |
| LS180_LARGE_INTESTINE | 474998 | 475247 | 475024 | 475024 | Frame_Shift_Del | G | - | p.P825fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 484635 | 484812 | 484785 | 484785 | Frame_Shift_Del | C | - | p.G261fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 484635 | 484812 | 484785 | 484785 | Frame_Shift_Del | C | - | p.G261fs |
| SNU1079_BILIARY_TRACT | 475676 | 475786 | 475740 | 475742 | In_Frame_Del | CTC | - | p.E729del |
| MFE319_ENDOMETRIUM | 474998 | 475247 | 475023 | 475023 | Missense_Mutation | C | T | p.A826T |
| HEC1A_ENDOMETRIUM | 474998 | 475247 | 475079 | 475079 | Missense_Mutation | C | T | p.S807N |
| MDAMB231_BREAST | 474998 | 475247 | 475089 | 475089 | Missense_Mutation | A | T | p.F804I |
| 639V_URINARY_TRACT | 474998 | 475247 | 475118 | 475118 | Missense_Mutation | G | C | p.S794C |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 474998 | 475247 | 475119 | 475119 | Missense_Mutation | A | T | p.S794T |
| HCT116_LARGE_INTESTINE | 474998 | 475247 | 475154 | 475154 | Missense_Mutation | A | G | p.V782A |
| NCIH524_LUNG | 474998 | 475247 | 475176 | 475176 | Missense_Mutation | G | T | p.L775M |
| UMUC14_URINARY_TRACT | 475676 | 475786 | 475681 | 475681 | Missense_Mutation | G | A | p.P749L |
| JHUEM7_ENDOMETRIUM | 475676 | 475786 | 475688 | 475688 | Missense_Mutation | C | T | p.D747N |
| NCIH2342_LUNG | 475676 | 475786 | 475757 | 475757 | Missense_Mutation | G | C | p.P724A |
| SNU175_LARGE_INTESTINE | 475676 | 475786 | 475772 | 475772 | Missense_Mutation | C | T | p.D719N |
| SH10TC_STOMACH | 476135 | 476207 | 476171 | 476171 | Missense_Mutation | C | T | p.E702K |
| ISTSL1_LUNG | 477447 | 477559 | 477489 | 477489 | Missense_Mutation | G | T | p.T573K |
| HUH28_BILIARY_TRACT | 477447 | 477559 | 477525 | 477525 | Missense_Mutation | G | A | p.S561F |
| CW2_LARGE_INTESTINE | 484635 | 484812 | 484762 | 484762 | Missense_Mutation | C | T | p.A269T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC9A3 |
| 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 SLC9A3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC9A3 |
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RelatedDrugs for SLC9A3 |
| 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 SLC9A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC9A3 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| SLC9A3 | C0011991 | Diarrhea | 1 | CTD_human |
| SLC9A3 | C0013604 | Edema | 1 | CTD_human |
| SLC9A3 | C0020649 | Hypotension | 1 | CTD_human |
| SLC9A3 | C0021843 | Intestinal Obstruction | 1 | CTD_human |
| SLC9A3 | C0267663 | Congenital secretory diarrhea, sodium type (disorder) | 1 | ORPHANET;UNIPROT |
| SLC9A3 | C1859047 | CYSTIC FIBROSIS MODIFIER 1 | 1 | CTD_human |
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