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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 PAX5 |
 Gene summary |
| Gene information | Gene symbol | PAX5 | Gene ID | 5079 |
| Gene name | paired box 5 | |
| Synonyms | ALL3|BSAP | |
| Cytomap | 9p13.2 | |
| Type of gene | protein-coding | |
| Description | paired box protein Pax-5B-cell lineage specific activatorpaired box homeotic gene 5paired domain gene 5transcription factor PAX 5 | |
| Modification date | 20180520 | |
| UniProtAcc | Q02548 | |
| Context | PubMed: PAX5 [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 PAX5 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 PAX5 |
| 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 PAX5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503965 | 9 | 36840554:36840633:36846839:36846926:36882000:36882102 | 36846839:36846926 | ENSG00000196092.8 | ENST00000522003.1,ENST00000414447.1,ENST00000358127.4,ENST00000523493.1,ENST00000524340.1,ENST00000377840.2 |
| exon_skip_503966 | 9 | 36840547:36840633:36846839:36846926:36923351:36923481 | 36846839:36846926 | ENSG00000196092.8 | ENST00000377852.2,ENST00000446742.1 |
| exon_skip_503970 | 9 | 36846839:36846926:36882000:36882102:36923351:36923481 | 36882000:36882102 | ENSG00000196092.8 | ENST00000522003.1,ENST00000414447.1,ENST00000358127.4,ENST00000524340.1 |
| exon_skip_503971 | 9 | 36846839:36846926:36882000:36882102:36966545:36966721 | 36882000:36882102 | ENSG00000196092.8 | ENST00000377840.2 |
| exon_skip_503972 | 9 | 36846839:36846926:36923351:36923481:36966545:36966721 | 36923351:36923481 | ENSG00000196092.8 | ENST00000377852.2,ENST00000446742.1 |
| exon_skip_503974 | 9 | 36882000:36882102:36923351:36923481:36966545:36966586 | 36923351:36923481 | ENSG00000196092.8 | ENST00000522003.1,ENST00000414447.1,ENST00000377853.2,ENST00000358127.4,ENST00000520281.1 |
| exon_skip_503976 | 9 | 36923351:36923481:36930884:36930941:36966545:36966586 | 36930884:36930941 | ENSG00000196092.8 | ENST00000524340.1 |
| exon_skip_503977 | 9 | 36966545:36966721:37002644:37002773:37006469:37006534 | 37002644:37002773 | ENSG00000196092.8 | ENST00000523241.1,ENST00000522003.1,ENST00000523145.1,ENST00000377853.2,ENST00000358127.4,ENST00000523493.1,ENST00000377852.2,ENST00000520154.1,ENST00000446742.1,ENST00000377840.2,ENST00000377847.2 |
| exon_skip_503978 | 9 | 37006469:37006534:37014993:37015191:37020632:37020798 | 37014993:37015191 | ENSG00000196092.8 | ENST00000523241.1,ENST00000414447.1,ENST00000377853.2,ENST00000358127.4,ENST00000523493.1,ENST00000377852.2,ENST00000520281.1,ENST00000520154.1,ENST00000377840.2,ENST00000377847.2 |
| exon_skip_503979 | 9 | 37014993:37015191:37020632:37020798:37033982:37034028 | 37020632:37020798 | ENSG00000196092.8 | ENST00000523241.1,ENST00000414447.1,ENST00000377853.2,ENST00000523493.1,ENST00000377852.2,ENST00000520281.1,ENST00000520154.1,ENST00000377840.2,ENST00000377847.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAX5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503965 | 9 | 36840554:36840633:36846839:36846926:36882000:36882102 | 36846839:36846926 | ENSG00000196092.8 | ENST00000358127.4,ENST00000377840.2,ENST00000522003.1,ENST00000523493.1,ENST00000414447.1,ENST00000524340.1 |
| exon_skip_503970 | 9 | 36846839:36846926:36882000:36882102:36923351:36923481 | 36882000:36882102 | ENSG00000196092.8 | ENST00000358127.4,ENST00000522003.1,ENST00000414447.1,ENST00000524340.1 |
| exon_skip_503971 | 9 | 36846839:36846926:36882000:36882102:36966545:36966721 | 36882000:36882102 | ENSG00000196092.8 | ENST00000377840.2 |
| exon_skip_503972 | 9 | 36846839:36846926:36923351:36923481:36966545:36966721 | 36923351:36923481 | ENSG00000196092.8 | ENST00000377852.2,ENST00000446742.1 |
| exon_skip_503974 | 9 | 36882000:36882102:36923351:36923481:36966545:36966586 | 36923351:36923481 | ENSG00000196092.8 | ENST00000358127.4,ENST00000377853.2,ENST00000520281.1,ENST00000522003.1,ENST00000414447.1 |
| exon_skip_503976 | 9 | 36923351:36923481:36930884:36930941:36966545:36966586 | 36930884:36930941 | ENSG00000196092.8 | ENST00000524340.1 |
| exon_skip_503977 | 9 | 36966545:36966721:37002644:37002773:37006469:37006534 | 37002644:37002773 | ENSG00000196092.8 | ENST00000358127.4,ENST00000377853.2,ENST00000377840.2,ENST00000377852.2,ENST00000523241.1,ENST00000520154.1,ENST00000446742.1,ENST00000522003.1,ENST00000523145.1,ENST00000523493.1,ENST00000377847.2 |
| exon_skip_503978 | 9 | 37006469:37006534:37014993:37015191:37020632:37020798 | 37014993:37015191 | ENSG00000196092.8 | ENST00000358127.4,ENST00000377853.2,ENST00000377840.2,ENST00000377852.2,ENST00000523241.1,ENST00000520154.1,ENST00000520281.1,ENST00000523493.1,ENST00000414447.1,ENST00000377847.2 |
| exon_skip_503979 | 9 | 37014993:37015191:37020632:37020798:37033982:37034028 | 37020632:37020798 | ENSG00000196092.8 | ENST00000377853.2,ENST00000377840.2,ENST00000377852.2,ENST00000523241.1,ENST00000520154.1,ENST00000520281.1,ENST00000523493.1,ENST00000414447.1,ENST00000377847.2 |
| 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 PAX5 |
| 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 |
| ENST00000358127 | 36923351 | 36923481 | Frame-shift |
| ENST00000358127 | 36846839 | 36846926 | In-frame |
| ENST00000358127 | 36882000 | 36882102 | In-frame |
| ENST00000358127 | 37002644 | 37002773 | In-frame |
| ENST00000358127 | 37014993 | 37015191 | 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 |
| ENST00000358127 | 36923351 | 36923481 | Frame-shift |
| ENST00000358127 | 36846839 | 36846926 | In-frame |
| ENST00000358127 | 36882000 | 36882102 | In-frame |
| ENST00000358127 | 37002644 | 37002773 | In-frame |
| ENST00000358127 | 37014993 | 37015191 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAX5 |
| 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 |
| ENST00000358127 | 8553 | 391 | 37014993 | 37015191 | 288 | 485 | 71 | 136 |
| ENST00000358127 | 8553 | 391 | 37002644 | 37002773 | 551 | 679 | 158 | 201 |
| ENST00000358127 | 8553 | 391 | 36882000 | 36882102 | 986 | 1087 | 303 | 337 |
| ENST00000358127 | 8553 | 391 | 36846839 | 36846926 | 1088 | 1174 | 337 | 366 |
| 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 |
| ENST00000358127 | 8553 | 391 | 37014993 | 37015191 | 288 | 485 | 71 | 136 |
| ENST00000358127 | 8553 | 391 | 37002644 | 37002773 | 551 | 679 | 158 | 201 |
| ENST00000358127 | 8553 | 391 | 36882000 | 36882102 | 986 | 1087 | 303 | 337 |
| ENST00000358127 | 8553 | 391 | 36846839 | 36846926 | 1088 | 1174 | 337 | 366 |
| 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 PAX5 |
| - 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 |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_503972 exon_skip_503974 | 36923352 | 36923481 | 36923410 | 36923410 | Frame_Shift_Del | G | - | p.P284fs |
| BRCA | TCGA-C8-A137-01 | exon_skip_503979 | 37020633 | 37020798 | 37020655 | 37020655 | Frame_Shift_Del | A | - | p.C64fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_503979 | 37020633 | 37020798 | 37020744 | 37020744 | Frame_Shift_Del | G | - | p.P34fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_503979 | 37020633 | 37020798 | 37020764 | 37020764 | Frame_Shift_Del | A | - | p.F27fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_503979 | 37020633 | 37020798 | 37020769 | 37020769 | Frame_Shift_Del | C | - | p.V26fs |
| KIRC | TCGA-AK-3444-01 | exon_skip_503971 exon_skip_503970 | 36882001 | 36882102 | 36882049 | 36882050 | Frame_Shift_Ins | - | G | p.W322fs |
| LUAD | TCGA-17-Z033-01 | exon_skip_503965 exon_skip_503966 | 36846840 | 36846926 | 36846921 | 36846921 | Nonsense_Mutation | C | A | p.E340* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_503979 | 37020633 | 37020798 | 37020790 | 37020790 | Nonsense_Mutation | C | A | p.G19* |
| DLBC | TCGA-FF-8042-01 | exon_skip_503972 exon_skip_503974 | 36923352 | 36923481 | 36923482 | 36923482 | Splice_Site | C | T | . |
| HNSC | TCGA-D6-6516-01 | exon_skip_503978 | 37014994 | 37015191 | 37014993 | 37014993 | Splice_Site | C | T | p.R137_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 |
| LOVO_LARGE_INTESTINE | 36882001 | 36882102 | 36882050 | 36882050 | Frame_Shift_Del | G | - | p.P321fs |
| CCK81_LARGE_INTESTINE | 37014994 | 37015191 | 37015030 | 37015031 | Frame_Shift_Ins | - | CA | p.D125fs |
| DMS79_LUNG | 36846840 | 36846926 | 36846843 | 36846843 | Missense_Mutation | G | T | p.L366I |
| SW684_SOFT_TISSUE | 36846840 | 36846926 | 36846852 | 36846852 | Missense_Mutation | G | A | p.P363S |
| GCT_SOFT_TISSUE | 36846840 | 36846926 | 36846922 | 36846922 | Missense_Mutation | A | C | p.S339R |
| MKN1_STOMACH | 36882001 | 36882102 | 36882048 | 36882048 | Missense_Mutation | G | T | p.A322D |
| PC9_LUNG | 36882001 | 36882102 | 36882054 | 36882054 | Missense_Mutation | G | C | p.P320R |
| NCIH2110_LUNG | 36882001 | 36882102 | 36882084 | 36882084 | Missense_Mutation | G | T | p.T310K |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36923352 | 36923481 | 36923387 | 36923387 | Missense_Mutation | C | T | p.S292N |
| NB1643_AUTONOMIC_GANGLIA | 36923352 | 36923481 | 36923406 | 36923406 | Missense_Mutation | G | A | p.P286S |
| SNU175_LARGE_INTESTINE | 36923352 | 36923481 | 36923451 | 36923451 | Missense_Mutation | C | T | p.A271T |
| MDAMB453_BREAST | 36923352 | 36923481 | 36923456 | 36923456 | Missense_Mutation | G | A | p.S269L |
| DU145_PROSTATE | 37002645 | 37002773 | 37002659 | 37002659 | Missense_Mutation | C | T | p.R197H |
| CW2_LARGE_INTESTINE | 37002645 | 37002773 | 37002659 | 37002659 | Missense_Mutation | C | T | p.R197H |
| NCIH1155_LUNG | 37002645 | 37002773 | 37002659 | 37002659 | Missense_Mutation | C | T | p.R197H |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37002645 | 37002773 | 37002701 | 37002701 | Missense_Mutation | C | G | p.G183A |
| HEC59_ENDOMETRIUM | 37002645 | 37002773 | 37002734 | 37002734 | Missense_Mutation | G | A | p.T172M |
| RL952_ENDOMETRIUM | 37014994 | 37015191 | 37015006 | 37015006 | Missense_Mutation | C | T | p.S133N |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37014994 | 37015191 | 37015007 | 37015007 | Missense_Mutation | T | G | p.S133R |
| COLO792_SKIN | 37014994 | 37015191 | 37015177 | 37015177 | Missense_Mutation | C | T | p.G76E |
| HEC251_ENDOMETRIUM | 37020633 | 37020798 | 37020640 | 37020640 | Missense_Mutation | G | T | p.L69I |
| HEC251_ENDOMETRIUM | 37020633 | 37020798 | 37020688 | 37020688 | Missense_Mutation | C | T | p.D53N |
| 639V_URINARY_TRACT | 37020633 | 37020798 | 37020748 | 37020748 | Missense_Mutation | G | C | p.L33V |
| HEC108_ENDOMETRIUM | 37020633 | 37020798 | 37020780 | 37020780 | Missense_Mutation | T | C | p.Q22R |
| SW684_SOFT_TISSUE | 36846840 | 36846926 | 36846926 | 36846926 | Splice_Site | C | T | p.G338E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAX5 |
| 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 PAX5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAX5 |
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RelatedDrugs for PAX5 |
| 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 PAX5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAX5 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human;UNIPROT |
| PAX5 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
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