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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 SLC29A3 |
 Gene summary |
| Gene information | Gene symbol | SLC29A3 | Gene ID | 55315 |
| Gene name | solute carrier family 29 member 3 | |
| Synonyms | ENT3|HCLAP|HJCD|PHID | |
| Cytomap | 10q22.1 | |
| Type of gene | protein-coding | |
| Description | equilibrative nucleoside transporter 3solute carrier family 29 (equilibrative nucleoside transporter), member 3solute carrier family 29 (nucleoside transporters), member 3 | |
| Modification date | 20180525 | |
| UniProtAcc | Q9BZD2 | |
| Context | PubMed: SLC29A3 [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 SLC29A3 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 SLC29A3 |
| 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 SLC29A3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_42243 | 10 | 73082512:73082811:73103965:73104048:73111318:73111545 | 73103965:73104048 | ENSG00000198246.7 | ENST00000373189.5 |
| exon_skip_42250 | 10 | 73103965:73104048:73111318:73111545:73115837:73116000 | 73111318:73111545 | ENSG00000198246.7 | ENST00000373189.5 |
| exon_skip_42252 | 10 | 73111444:73111545:73115837:73116000:73121710:73122276 | 73115837:73116000 | ENSG00000198246.7 | ENST00000373189.5 |
| exon_skip_42253 | 10 | 73111444:73111545:73115837:73116006:73121710:73122276 | 73115837:73116006 | ENSG00000198246.7 | ENST00000469204.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC29A3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_42243 | 10 | 73082512:73082811:73103965:73104048:73111318:73111545 | 73103965:73104048 | ENSG00000198246.7 | ENST00000373189.5 |
| exon_skip_42250 | 10 | 73103965:73104048:73111318:73111545:73115837:73116000 | 73111318:73111545 | ENSG00000198246.7 | ENST00000373189.5 |
| 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 SLC29A3 |
| 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 |
| ENST00000373189 | 73103965 | 73104048 | Frame-shift |
| ENST00000373189 | 73111318 | 73111545 | Frame-shift |
| ENST00000373189 | 73115837 | 73116000 | 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 |
| ENST00000373189 | 73103965 | 73104048 | Frame-shift |
| ENST00000373189 | 73111318 | 73111545 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SLC29A3 |
| 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 SLC29A3 |
| - 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-G3-A3CJ-01 | exon_skip_42250 | 73111319 | 73111545 | 73111408 | 73111408 | Frame_Shift_Del | C | - | p.S159fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_42250 | 73111319 | 73111545 | 73111425 | 73111425 | Frame_Shift_Del | T | - | p.F165fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_42250 | 73111319 | 73111545 | 73111425 | 73111425 | Frame_Shift_Del | T | - | p.G163fs |
| BRCA | TCGA-E9-A247-01 | exon_skip_42250 | 73111319 | 73111545 | 73111493 | 73111496 | Frame_Shift_Del | CTAC | - | p.I186fs |
| - 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 |
| CCK81_LARGE_INTESTINE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| COLO680N_OESOPHAGUS | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| D341MED_CENTRAL_NERVOUS_SYSTEM | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| HCC2108_LUNG | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| HCC2157_BREAST | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| HS819T_FIBROBLAST | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| HUPT4_PANCREAS | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| JHOM1_OVARY | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| JHUEM1_ENDOMETRIUM | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| JHUEM2_ENDOMETRIUM | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| KU1919_URINARY_TRACT | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| KYSE70_OESOPHAGUS | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| NCIH1568_LUNG | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| NCIH1819_LUNG | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| NCIH2126_LUNG | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| RMUGS_OVARY | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| SNU668_STOMACH | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| SNU685_ENDOMETRIUM | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| SNU869_BILIARY_TRACT | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73111319 | 73111545 | 73111424 | 73111425 | Frame_Shift_Ins | - | T | p.F164fs |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73115838 | 73116006 | 73115905 | 73115913 | In_Frame_Del | GAGGAACAG | - | p.RNS227del |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73115838 | 73116000 | 73115905 | 73115913 | In_Frame_Del | GAGGAACAG | - | p.RNS227del |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73115838 | 73116006 | 73115914 | 73115915 | In_Frame_Ins | - | CTG | p.229_230insL |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73115838 | 73116000 | 73115914 | 73115915 | In_Frame_Ins | - | CTG | p.229_230insL |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73115838 | 73116006 | 73115916 | 73115917 | In_Frame_Ins | - | CTTCTT | p.230_231AL>AFFL |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73115838 | 73116000 | 73115916 | 73115917 | In_Frame_Ins | - | CTTCTT | p.230_231AL>AFFL |
| IGROV1_OVARY | 73103966 | 73104048 | 73103982 | 73103982 | Missense_Mutation | A | G | p.Y106C |
| LS411N_LARGE_INTESTINE | 73103966 | 73104048 | 73103984 | 73103984 | Missense_Mutation | C | T | p.L107F |
| TOV112D_OVARY | 73103966 | 73104048 | 73104005 | 73104005 | Missense_Mutation | C | G | p.P114A |
| 253J_URINARY_TRACT | 73111319 | 73111545 | 73111371 | 73111371 | Missense_Mutation | T | G | p.F146V |
| 253JBV_URINARY_TRACT | 73111319 | 73111545 | 73111371 | 73111371 | Missense_Mutation | T | G | p.F146V |
| HEMCSS_BONE | 73111319 | 73111545 | 73111375 | 73111375 | Missense_Mutation | T | C | p.M147T |
| SNU1040_LARGE_INTESTINE | 73111319 | 73111545 | 73111432 | 73111432 | Missense_Mutation | C | T | p.A166V |
| MEWO_SKIN | 73111319 | 73111545 | 73111457 | 73111458 | Missense_Mutation | CC | TT | p.L175F |
| MEWO_SKIN | 73111319 | 73111545 | 73111458 | 73111458 | Missense_Mutation | C | T | p.L175F |
| KPNSI9S_AUTONOMIC_GANGLIA | 73115838 | 73116006 | 73115898 | 73115898 | Missense_Mutation | G | A | p.S224N |
| KPNSI9S_AUTONOMIC_GANGLIA | 73115838 | 73116000 | 73115898 | 73115898 | Missense_Mutation | G | A | p.S224N |
| EN_ENDOMETRIUM | 73115838 | 73116006 | 73115927 | 73115927 | Missense_Mutation | T | C | p.F234L |
| EN_ENDOMETRIUM | 73115838 | 73116000 | 73115927 | 73115927 | Missense_Mutation | T | C | p.F234L |
| HEMCSS_BONE | 73115838 | 73116006 | 73115927 | 73115927 | Missense_Mutation | T | C | p.F234L |
| HEMCSS_BONE | 73115838 | 73116000 | 73115927 | 73115927 | Missense_Mutation | T | C | p.F234L |
| MS751_CERVIX | 73115838 | 73116006 | 73115933 | 73115933 | Missense_Mutation | A | G | p.T236A |
| MS751_CERVIX | 73115838 | 73116000 | 73115933 | 73115933 | Missense_Mutation | A | G | p.T236A |
| ESS1_ENDOMETRIUM | 73115838 | 73116006 | 73115951 | 73115951 | Missense_Mutation | G | A | p.V242M |
| ESS1_ENDOMETRIUM | 73115838 | 73116000 | 73115951 | 73115951 | Missense_Mutation | G | A | p.V242M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC29A3 |
| 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 SLC29A3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC29A3 |
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RelatedDrugs for SLC29A3 |
| 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 SLC29A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC29A3 | C1864445 | Histiocytosis with joint contractures and sensorineural deafness | 7 | CTD_human;ORPHANET;UNIPROT |
| SLC29A3 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 2 | CTD_human |
| SLC29A3 | C0020555 | Hypertrichosis | 2 | CTD_human;HPO |
| SLC29A3 | C0162834 | Hyperpigmentation | 2 | CTD_human;HPO |
| SLC29A3 | C0011570 | Mental Depression | 1 | PSYGENET |
| SLC29A3 | C0011581 | Depressive disorder | 1 | PSYGENET |
| SLC29A3 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| SLC29A3 | C0019209 | Hepatomegaly | 1 | CTD_human;HPO |
| SLC29A3 | C0019618 | Histiocytosis | 1 | CTD_human;HPO |
| SLC29A3 | C0019625 | Sinus histiocytosis | 1 | CTD_human |
| SLC29A3 | C0020619 | Hypogonadism | 1 | CTD_human |
| SLC29A3 | C1384666 | hearing impairment | 1 | CTD_human;HPO |
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