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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 SLC30A8 |
 Gene summary |
| Gene information | Gene symbol | SLC30A8 | Gene ID | 169026 |
| Gene name | solute carrier family 30 member 8 | |
| Synonyms | ZNT8|ZnT-8 | |
| Cytomap | 8q24.11 | |
| Type of gene | protein-coding | |
| Description | zinc transporter 8solute carrier family 30 (zinc transporter), member 8zinc transporter ZnT-8 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IWU4 | |
| Context | PubMed: SLC30A8 [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 |
| SLC30A8 | GO:0006829 | zinc ion transport | 15331542 |
| SLC30A8 | GO:0032119 | sequestering of zinc ion | 15331542 |
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Exon skipping events across known transcript of Ensembl for SLC30A8 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 SLC30A8 |
| 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 SLC30A8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485721 | 8 | 117963257:117963358:118019229:118019352:118147470:118147637 | 118019229:118019352 | ENSG00000164756.8 | ENST00000521035.1 |
| exon_skip_485725 | 8 | 117963189:117963358:118051457:118051497:118147518:118147637 | 118051457:118051497 | ENSG00000164756.8 | ENST00000427715.2 |
| exon_skip_485733 | 8 | 117963257:117963358:118159057:118159087:118159192:118159250 | 118159057:118159087 | ENSG00000164756.8 | ENST00000524274.1,ENST00000521243.1 |
| exon_skip_485735 | 8 | 118019229:118019352:118147470:118147637:118159057:118159087 | 118147470:118147637 | ENSG00000164756.8 | ENST00000521035.1 |
| exon_skip_485739 | 8 | 118147566:118147637:118159057:118159087:118159192:118159250 | 118159057:118159087 | ENSG00000164756.8 | ENST00000518396.1,ENST00000427715.2,ENST00000521035.1,ENST00000519688.1 |
| exon_skip_485743 | 8 | 118147566:118147637:118159192:118159392:118165182:118165214 | 118159192:118159392 | ENSG00000164756.8 | ENST00000456015.2,ENST00000518521.1 |
| exon_skip_485745 | 8 | 118159208:118159392:118165182:118165329:118169929:118170083 | 118165182:118165329 | ENSG00000164756.8 | ENST00000456015.2,ENST00000427715.2,ENST00000521243.1,ENST00000519688.1 |
| exon_skip_485746 | 8 | 118165182:118165329:118169929:118170083:118173976:118174127 | 118169929:118170083 | ENSG00000164756.8 | ENST00000456015.2,ENST00000427715.2,ENST00000521243.1,ENST00000519688.1 |
| exon_skip_485750 | 8 | 118175667:118175769:118183272:118183407:118184774:118184974 | 118183272:118183407 | ENSG00000164756.8 | ENST00000456015.2,ENST00000427715.2,ENST00000521243.1,ENST00000519688.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC30A8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485735 | 8 | 118019229:118019352:118147470:118147637:118159057:118159087 | 118147470:118147637 | ENSG00000164756.8 | ENST00000521035.1 |
| exon_skip_485739 | 8 | 118147566:118147637:118159057:118159087:118159192:118159250 | 118159057:118159087 | ENSG00000164756.8 | ENST00000521035.1,ENST00000427715.2,ENST00000518396.1,ENST00000519688.1 |
| exon_skip_485743 | 8 | 118147566:118147637:118159192:118159392:118165182:118165214 | 118159192:118159392 | ENSG00000164756.8 | ENST00000518521.1,ENST00000456015.2 |
| 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 SLC30A8 |
| 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 |
| ENST00000456015 | 118159192 | 118159392 | Frame-shift |
| ENST00000456015 | 118169929 | 118170083 | Frame-shift |
| ENST00000456015 | 118165182 | 118165329 | In-frame |
| ENST00000456015 | 118183272 | 118183407 | 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 |
| ENST00000456015 | 118159192 | 118159392 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SLC30A8 |
| 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 |
| ENST00000456015 | 2537 | 369 | 118165182 | 118165329 | 272 | 418 | 90 | 139 |
| ENST00000456015 | 2537 | 369 | 118183272 | 118183407 | 830 | 964 | 276 | 321 |
| 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 |
| Q8IWU4 | 90 | 139 | 1 | 369 | Chain | ID=PRO_0000281740;Note=Zinc transporter 8 |
| Q8IWU4 | 90 | 139 | 123 | 123 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IWU4 | 90 | 139 | 101 | 103 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWU4 | 90 | 139 | 125 | 140 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWU4 | 90 | 139 | 80 | 100 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWU4 | 90 | 139 | 104 | 124 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWU4 | 276 | 321 | 1 | 369 | Chain | ID=PRO_0000281740;Note=Zinc transporter 8 |
| Q8IWU4 | 276 | 321 | 302 | 302 | Sequence conflict | Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IWU4 | 276 | 321 | 267 | 369 | 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 |
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SNVs in the skipped exons for SLC30A8 |
| - 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_485743 | 118159193 | 118159392 | 118159209 | 118159209 | Frame_Shift_Del | A | - | p.K30fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_485743 | 118159193 | 118159392 | 118159303 | 118159303 | Frame_Shift_Del | A | - | p.E12fs |
| COAD | TCGA-A6-6650-01 | exon_skip_485743 | 118159193 | 118159392 | 118159307 | 118159307 | Frame_Shift_Del | G | - | p.K62fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485745 | 118165183 | 118165329 | 118165235 | 118165235 | Frame_Shift_Del | A | - | p.L59fs |
| STAD | TCGA-HU-8602-01 | exon_skip_485750 | 118183273 | 118183407 | 118183307 | 118183308 | Frame_Shift_Del | AG | - | p.288_288del |
| STAD | TCGA-HU-8602-01 | exon_skip_485750 | 118183273 | 118183407 | 118183307 | 118183308 | Frame_Shift_Del | AG | - | p.K288fs |
| BRCA | TCGA-AR-A24H-01 | exon_skip_485750 | 118183273 | 118183407 | 118183309 | 118183318 | Frame_Shift_Del | AGCTTATTTT | - | p.L290fs |
| COAD | TCGA-AA-3713-01 | exon_skip_485743 | 118159193 | 118159392 | 118159336 | 118159336 | Nonsense_Mutation | G | A | p.W72X |
| SKCM | TCGA-EE-A20C-06 | exon_skip_485743 | 118159193 | 118159392 | 118159337 | 118159337 | Nonsense_Mutation | G | A | p.W23* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_485743 | 118159193 | 118159392 | 118159337 | 118159337 | Nonsense_Mutation | G | A | p.W72X |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_485746 | 118169930 | 118170083 | 118170031 | 118170031 | Nonsense_Mutation | C | T | p.Q125* |
| ACC | TCGA-OR-A5KB-01 | exon_skip_485750 | 118183273 | 118183407 | 118183272 | 118183272 | Splice_Site | G | C | . |
| - 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 |
| NCIH2029_LUNG | 118147471 | 118147637 | 118147628 | 118147628 | Missense_Mutation | C | T | p.T21I |
| HCC2998_LARGE_INTESTINE | 118159193 | 118159392 | 118159213 | 118159213 | Missense_Mutation | C | T | p.P31L |
| HCC38_BREAST | 118159193 | 118159392 | 118159215 | 118159215 | Missense_Mutation | G | A | p.V32M |
| DOV13_OVARY | 118159193 | 118159392 | 118159230 | 118159230 | Missense_Mutation | T | C | p.C37R |
| MM383_SKIN | 118159193 | 118159392 | 118159248 | 118159248 | Missense_Mutation | G | A | p.E43K |
| NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118159193 | 118159392 | 118159294 | 118159294 | Missense_Mutation | A | C | p.K58T |
| OCUM1_STOMACH | 118159193 | 118159392 | 118159335 | 118159335 | Missense_Mutation | T | G | p.W72G |
| HCT15_LARGE_INTESTINE | 118159193 | 118159392 | 118159354 | 118159354 | Missense_Mutation | C | T | p.S78L |
| SNGM_ENDOMETRIUM | 118165183 | 118165329 | 118165207 | 118165207 | Missense_Mutation | C | T | p.A99V |
| SKMES1_LUNG | 118169930 | 118170083 | 118169936 | 118169936 | Missense_Mutation | T | C | p.L142P |
| CHAGOK1_LUNG | 118169930 | 118170083 | 118169939 | 118169939 | Missense_Mutation | G | C | p.G143A |
| HEC265_ENDOMETRIUM | 118169930 | 118170083 | 118169947 | 118169947 | Missense_Mutation | C | T | p.L146F |
| OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118169930 | 118170083 | 118169971 | 118169971 | Missense_Mutation | G | A | p.V154M |
| PLCPRF5_LIVER | 118169930 | 118170083 | 118169975 | 118169975 | Missense_Mutation | C | A | p.T155N |
| HEC6_ENDOMETRIUM | 118169930 | 118170083 | 118170035 | 118170035 | Missense_Mutation | C | T | p.A175V |
| HCT116_LARGE_INTESTINE | 118169930 | 118170083 | 118170070 | 118170070 | Missense_Mutation | G | A | p.A187T |
| NCIH2731_PLEURA | 118183273 | 118183407 | 118183321 | 118183321 | Missense_Mutation | C | T | p.A293V |
| CW2_LARGE_INTESTINE | 118183273 | 118183407 | 118183324 | 118183324 | Missense_Mutation | T | A | p.V294D |
| NCIH661_LUNG | 118183273 | 118183407 | 118183330 | 118183330 | Missense_Mutation | G | T | p.G296V |
| MCC142_SKIN | 118183273 | 118183407 | 118183356 | 118183356 | Missense_Mutation | A | T | p.I305F |
| SIHA_CERVIX | 118183273 | 118183407 | 118183361 | 118183361 | Nonsense_Mutation | G | A | p.W306* |
| LU99_LUNG | 118165183 | 118165329 | 118165183 | 118165183 | Splice_Site | G | C | p.G91A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC30A8 |
| 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 SLC30A8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC30A8 |
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RelatedDrugs for SLC30A8 |
| 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 SLC30A8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC30A8 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 6 | CTD_human |
| SLC30A8 | C0036341 | Schizophrenia | 1 | PSYGENET |
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