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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 PWWP2B |
 Gene summary |
| Gene information | Gene symbol | PWWP2B | Gene ID | 170394 |
| Gene name | PWWP domain containing 2B | |
| Synonyms | PWWP2|bA432J24.1|pp8607 | |
| Cytomap | 10q26.3 | |
| Type of gene | protein-coding | |
| Description | PWWP domain-containing protein 2BPWWP domain containing 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6NUJ5 | |
| Context | PubMed: PWWP2B [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 PWWP2B 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 PWWP2B |
| 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 PWWP2B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46544 | 10 | 134210701:134210855:134218129:134219490:134230564:134230681 | 134218129:134219490 | ENSG00000171813.10 | ENST00000368609.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PWWP2B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46544 | 10 | 134210701:134210855:134218129:134219490:134230564:134230681 | 134218129:134219490 | ENSG00000171813.10 | ENST00000368609.4 |
| 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 PWWP2B |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PWWP2B |
| 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 PWWP2B |
| - 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_46544 | 134218130 | 134219490 | 134218149 | 134218149 | Frame_Shift_Del | C | - | p.P50fs |
| STAD | TCGA-CG-4305-01 | exon_skip_46544 | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| STAD | TCGA-CG-5721-01 | exon_skip_46544 | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_46544 | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_46544 | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| STAD | TCGA-BR-8078-01 | exon_skip_46544 | 134218130 | 134219490 | 134218281 | 134218281 | Frame_Shift_Del | C | - | p.Q92fs |
| LGG | TCGA-HT-8564-01 | exon_skip_46544 | 134218130 | 134219490 | 134218375 | 134218375 | Frame_Shift_Del | C | - | p.A124fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_46544 | 134218130 | 134219490 | 134218811 | 134218811 | Frame_Shift_Del | C | - | p.I269fs |
| STAD | TCGA-BR-7707-01 | exon_skip_46544 | 134218130 | 134219490 | 134218254 | 134218255 | Frame_Shift_Ins | - | C | p.S84fs |
| STAD | TCGA-BR-7707-01 | exon_skip_46544 | 134218130 | 134219490 | 134218255 | 134218256 | Frame_Shift_Ins | - | C | p.S84fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_46544 | 134218130 | 134219490 | 134219011 | 134219012 | Frame_Shift_Ins | - | G | p.K336fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_46544 | 134218130 | 134219490 | 134219402 | 134219403 | Frame_Shift_Ins | - | C | p.PP466fs |
| - 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 |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| SNU1040_LARGE_INTESTINE | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| LS411N_LARGE_INTESTINE | 134218130 | 134219490 | 134218255 | 134218255 | Frame_Shift_Del | C | - | p.S84fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218281 | 134218281 | Frame_Shift_Del | C | - | p.P94fs |
| NCIH1563_LUNG | 134218130 | 134219490 | 134218476 | 134218476 | Frame_Shift_Del | A | - | p.N158fs |
| HEC59_ENDOMETRIUM | 134218130 | 134219490 | 134218487 | 134218487 | Frame_Shift_Del | G | - | p.P161fs |
| EN_ENDOMETRIUM | 134218130 | 134219490 | 134218254 | 134218255 | Frame_Shift_Ins | - | C | p.S84fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 134218130 | 134219490 | 134218280 | 134218281 | Frame_Shift_Ins | - | C | p.P93fs |
| NCIH716_LARGE_INTESTINE | 134218130 | 134219490 | 134218905 | 134218906 | Frame_Shift_Ins | - | C | p.S301fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134219239 | 134219240 | Frame_Shift_Ins | - | G | p.EG412fs |
| IGROV1_OVARY | 134218130 | 134219490 | 134218153 | 134218153 | Missense_Mutation | C | T | p.P50L |
| SAS_UPPER_AERODIGESTIVE_TRACT | 134218130 | 134219490 | 134218255 | 134218255 | Missense_Mutation | C | T | p.S84F |
| G401_SOFT_TISSUE | 134218130 | 134219490 | 134218258 | 134218258 | Missense_Mutation | C | G | p.P85R |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218261 | 134218261 | Missense_Mutation | C | G | p.P86R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218312 | 134218312 | Missense_Mutation | C | T | p.P103L |
| IGR1_SKIN | 134218130 | 134219490 | 134218359 | 134218359 | Missense_Mutation | C | T | p.P119S |
| SNU324_PANCREAS | 134218130 | 134219490 | 134218370 | 134218370 | Missense_Mutation | A | C | p.E122D |
| SNU175_LARGE_INTESTINE | 134218130 | 134219490 | 134218374 | 134218374 | Missense_Mutation | G | A | p.A124T |
| IPC298_SKIN | 134218130 | 134219490 | 134218498 | 134218498 | Missense_Mutation | T | A | p.I165N |
| HEC6_ENDOMETRIUM | 134218130 | 134219490 | 134218512 | 134218512 | Missense_Mutation | C | T | p.R170C |
| CCK81_LARGE_INTESTINE | 134218130 | 134219490 | 134218528 | 134218528 | Missense_Mutation | A | G | p.Q175R |
| KYSE150_OESOPHAGUS | 134218130 | 134219490 | 134218529 | 134218529 | Missense_Mutation | G | C | p.Q175H |
| LS180_LARGE_INTESTINE | 134218130 | 134219490 | 134218552 | 134218552 | Missense_Mutation | G | A | p.S183N |
| NCIH2030_LUNG | 134218130 | 134219490 | 134218657 | 134218657 | Missense_Mutation | C | T | p.P218L |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218659 | 134218659 | Missense_Mutation | G | A | p.E219K |
| HEC59_ENDOMETRIUM | 134218130 | 134219490 | 134218750 | 134218750 | Missense_Mutation | G | A | p.R249Q |
| MCC13_SKIN | 134218130 | 134219490 | 134218771 | 134218771 | Missense_Mutation | C | T | p.S256F |
| LIM1215_LARGE_INTESTINE | 134218130 | 134219490 | 134218793 | 134218793 | Missense_Mutation | G | T | p.K263N |
| OV56_OVARY | 134218130 | 134219490 | 134218794 | 134218794 | Missense_Mutation | G | A | p.G264R |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218816 | 134218816 | Missense_Mutation | C | T | p.S271F |
| EMCBAC1_LUNG | 134218130 | 134219490 | 134218860 | 134218860 | Missense_Mutation | C | T | p.P286S |
| SN12C_KIDNEY | 134218130 | 134219490 | 134218879 | 134218879 | Missense_Mutation | A | G | p.Q292R |
| HEC1_ENDOMETRIUM | 134218130 | 134219490 | 134218926 | 134218926 | Missense_Mutation | G | A | p.A308T |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134218926 | 134218926 | Missense_Mutation | G | A | p.A308T |
| EN_ENDOMETRIUM | 134218130 | 134219490 | 134218990 | 134218990 | Missense_Mutation | C | G | p.P329R |
| HT55_LARGE_INTESTINE | 134218130 | 134219490 | 134219029 | 134219029 | Missense_Mutation | A | G | p.D342G |
| GP5D_LARGE_INTESTINE | 134218130 | 134219490 | 134219041 | 134219041 | Missense_Mutation | A | G | p.E346G |
| LOXIMVI_SKIN | 134218130 | 134219490 | 134219049 | 134219049 | Missense_Mutation | T | C | p.Y349H |
| SNU1040_LARGE_INTESTINE | 134218130 | 134219490 | 134219053 | 134219053 | Missense_Mutation | G | A | p.R350Q |
| BONNA12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134219078 | 134219078 | Missense_Mutation | C | G | p.N358K |
| ZR751_BREAST | 134218130 | 134219490 | 134219088 | 134219088 | Missense_Mutation | C | T | p.R362W |
| YMB1E_BREAST | 134218130 | 134219490 | 134219088 | 134219088 | Missense_Mutation | C | T | p.R362W |
| CHLA258_BONE | 134218130 | 134219490 | 134219130 | 134219130 | Missense_Mutation | G | A | p.G376R |
| NBSUSSR_AUTONOMIC_GANGLIA | 134218130 | 134219490 | 134219188 | 134219188 | Missense_Mutation | C | G | p.P395R |
| KS1_CENTRAL_NERVOUS_SYSTEM | 134218130 | 134219490 | 134219194 | 134219194 | Missense_Mutation | G | A | p.G397D |
| LN229_CENTRAL_NERVOUS_SYSTEM | 134218130 | 134219490 | 134219194 | 134219194 | Missense_Mutation | G | A | p.G397D |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134218130 | 134219490 | 134219200 | 134219200 | Missense_Mutation | A | G | p.Q399R |
| UMUC6_URINARY_TRACT | 134218130 | 134219490 | 134219206 | 134219206 | Missense_Mutation | G | A | p.R401H |
| SW756_CERVIX | 134218130 | 134219490 | 134219240 | 134219240 | Missense_Mutation | G | C | p.E412D |
| GP2D_LARGE_INTESTINE | 134218130 | 134219490 | 134219280 | 134219280 | Missense_Mutation | G | A | p.D426N |
| GP5D_LARGE_INTESTINE | 134218130 | 134219490 | 134219280 | 134219280 | Missense_Mutation | G | A | p.D426N |
| L33_PANCREAS | 134218130 | 134219490 | 134219344 | 134219344 | Missense_Mutation | C | T | p.S447L |
| SNU175_LARGE_INTESTINE | 134218130 | 134219490 | 134219358 | 134219358 | Missense_Mutation | G | A | p.A452T |
| SNU478_BILIARY_TRACT | 134218130 | 134219490 | 134219362 | 134219362 | Missense_Mutation | C | T | p.S453L |
| HS739T_FIBROBLAST | 134218130 | 134219490 | 134219429 | 134219429 | Missense_Mutation | G | C | p.Q475H |
| NCIH69_LUNG | 134218130 | 134219490 | 134219480 | 134219480 | Missense_Mutation | C | A | p.D492E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PWWP2B |
| 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 PWWP2B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PWWP2B |
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RelatedDrugs for PWWP2B |
| 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 PWWP2B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PWWP2B | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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