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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 PANK3 |
 Gene summary |
| Gene information | Gene symbol | PANK3 | Gene ID | 79646 |
| Gene name | pantothenate kinase 3 | |
| Synonyms | - | |
| Cytomap | 5q34 | |
| Type of gene | protein-coding | |
| Description | pantothenate kinase 3hPanK3pantothenic acid kinase 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H999 | |
| Context | PubMed: PANK3 [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 PANK3 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 PANK3 |
| 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 PANK3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446107 | 5 | 167984615:167984626:167986036:167986162:167988397:167988521 | 167986036:167986162 | ENSG00000120137.6 | ENST00000239231.6,ENST00000520504.1 |
| exon_skip_446112 | 5 | 167986036:167986162:167988397:167988521:167990893:167991070 | 167988397:167988521 | ENSG00000120137.6 | ENST00000239231.6 |
| exon_skip_446113 | 5 | 167986036:167986162:167988397:167988521:167993017:167993069 | 167988397:167988521 | ENSG00000120137.6 | ENST00000520504.1 |
| exon_skip_446117 | 5 | 167988397:167988521:167990893:167991070:167993017:167993069 | 167990893:167991070 | ENSG00000120137.6 | ENST00000239231.6 |
| exon_skip_446118 | 5 | 167990893:167991070:167993017:167993271:167995650:167996003 | 167993017:167993271 | ENSG00000120137.6 | ENST00000239231.6 |
| exon_skip_446120 | 5 | 167995650:167996003:168005638:168005712:168006260:168006355 | 168005638:168005712 | ENSG00000120137.6 | ENST00000522176.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PANK3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446107 | 5 | 167984615:167984626:167986036:167986162:167988397:167988521 | 167986036:167986162 | ENSG00000120137.6 | ENST00000239231.6,ENST00000520504.1 |
| exon_skip_446112 | 5 | 167986036:167986162:167988397:167988521:167990893:167991070 | 167988397:167988521 | ENSG00000120137.6 | ENST00000239231.6 |
| exon_skip_446117 | 5 | 167988397:167988521:167990893:167991070:167993017:167993069 | 167990893:167991070 | ENSG00000120137.6 | ENST00000239231.6 |
| exon_skip_446118 | 5 | 167990893:167991070:167993017:167993271:167995650:167996003 | 167993017:167993271 | ENSG00000120137.6 | ENST00000239231.6 |
| exon_skip_446120 | 5 | 167995650:167996003:168005638:168005712:168006260:168006355 | 168005638:168005712 | ENSG00000120137.6 | ENST00000522176.1 |
| 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 PANK3 |
| 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 |
| ENST00000239231 | 167988397 | 167988521 | Frame-shift |
| ENST00000239231 | 167993017 | 167993271 | Frame-shift |
| ENST00000239231 | 167986036 | 167986162 | In-frame |
| ENST00000239231 | 167990893 | 167991070 | 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 |
| ENST00000239231 | 167988397 | 167988521 | Frame-shift |
| ENST00000239231 | 167993017 | 167993271 | Frame-shift |
| ENST00000239231 | 167986036 | 167986162 | In-frame |
| ENST00000239231 | 167990893 | 167991070 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PANK3 |
| 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 |
| ENST00000239231 | 10523 | 370 | 167990893 | 167991070 | 953 | 1129 | 212 | 270 |
| ENST00000239231 | 10523 | 370 | 167986036 | 167986162 | 1254 | 1379 | 312 | 354 |
| 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 |
| ENST00000239231 | 10523 | 370 | 167990893 | 167991070 | 953 | 1129 | 212 | 270 |
| ENST00000239231 | 10523 | 370 | 167986036 | 167986162 | 1254 | 1379 | 312 | 354 |
| 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 |
| Q9H999 | 212 | 270 | 204 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 247 | 249 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 267 | 270 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 1 | 370 | Chain | ID=PRO_0000161804;Note=Pantothenate kinase 3 |
| Q9H999 | 212 | 270 | 215 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 231 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 243 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 250 | 254 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 259 | 262 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 316 | 321 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 347 | 351 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 1 | 370 | Chain | ID=PRO_0000161804;Note=Pantothenate kinase 3 |
| Q9H999 | 312 | 354 | 286 | 312 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 322 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 328 | 341 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 335 | 335 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H999 | 312 | 354 | 342 | 344 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 352 | 355 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| 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 |
| Q9H999 | 212 | 270 | 204 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 247 | 249 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 267 | 270 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 1 | 370 | Chain | ID=PRO_0000161804;Note=Pantothenate kinase 3 |
| Q9H999 | 212 | 270 | 215 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 231 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 243 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 250 | 254 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 212 | 270 | 259 | 262 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 316 | 321 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 347 | 351 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 1 | 370 | Chain | ID=PRO_0000161804;Note=Pantothenate kinase 3 |
| Q9H999 | 312 | 354 | 286 | 312 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 322 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 328 | 341 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 335 | 335 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H999 | 312 | 354 | 342 | 344 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
| Q9H999 | 312 | 354 | 352 | 355 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KPR |
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SNVs in the skipped exons for PANK3 |
| - 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 |
| HNSC | TCGA-F7-A624-01 | exon_skip_446107 | 167986037 | 167986162 | 167986153 | 167986156 | Frame_Shift_Del | TGTT | - | p.NR315fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_446117 | 167990894 | 167991070 | 167991047 | 167991047 | Frame_Shift_Del | C | - | p.G220fs |
| STAD | TCGA-CG-5723-01 | exon_skip_446117 | 167990894 | 167991070 | 167991059 | 167991059 | Frame_Shift_Del | C | - | p.G216fs |
| KIRC | TCGA-CJ-5682-01 | exon_skip_446118 | 167993018 | 167993271 | 167993043 | 167993044 | Frame_Shift_Del | TG | - | p.204_204del |
| BLCA | TCGA-DK-A1AG-01 | exon_skip_446107 | 167986037 | 167986162 | 167986163 | 167986163 | Splice_Site | C | T | p.K313_splice |
| ESCA | TCGA-VR-AA4G-01 | exon_skip_446112 exon_skip_446113 | 167988398 | 167988521 | 167988397 | 167988397 | Splice_Site | C | T | . |
| ESCA | TCGA-VR-AA4G-01 | exon_skip_446112 exon_skip_446113 | 167988398 | 167988521 | 167988397 | 167988397 | Splice_Site | C | T | e5+1 |
| - 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 |
| NCIH69_LUNG | 167988398 | 167988521 | 167988400 | 167988400 | Missense_Mutation | C | T | p.E312K |
| CHP126_AUTONOMIC_GANGLIA | 167988398 | 167988521 | 167988426 | 167988426 | Missense_Mutation | G | T | p.S303Y |
| 639V_URINARY_TRACT | 167990894 | 167991070 | 167990954 | 167990954 | Missense_Mutation | C | T | p.R251H |
| RH36_SOFT_TISSUE | 167993018 | 167993271 | 167993171 | 167993171 | Missense_Mutation | T | A | p.Y161F |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 167993018 | 167993271 | 167993175 | 167993175 | Missense_Mutation | A | G | p.C160R |
| SNGM_ENDOMETRIUM | 167993018 | 167993271 | 167993175 | 167993175 | Missense_Mutation | A | G | p.C160R |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 167993018 | 167993271 | 167993213 | 167993213 | Missense_Mutation | A | G | p.L147P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PANK3 |
| 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 PANK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PANK3 |
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RelatedDrugs for PANK3 |
| 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 PANK3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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