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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for WDR3 |
Gene summary |
Gene information | Gene symbol | WDR3 | Gene ID | 10885 |
Gene name | WD repeat domain 3 | |
Synonyms | DIP2|UTP12 | |
Cytomap | 1p12 | |
Type of gene | protein-coding | |
Description | WD repeat-containing protein 3dJ776P7.2 (WD repeat domain 3) | |
Modification date | 20180523 | |
UniProtAcc | Q9UNX4 | |
Context | PubMed: WDR3 [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 WDR3 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 WDR3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for WDR3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_9129 | 1 | 118472390:118472405:118475910:118476113:118477095:118477305 | 118475910:118476113 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9130 | 1 | 118475910:118476012:118476252:118476363:118477095:118477305 | 118476252:118476363 | ENSG00000065183.11 | ENST00000487202.1,ENST00000369441.3 |
exon_skip_9132 | 1 | 118481102:118481181:118482099:118482195:118483449:118483563 | 118482099:118482195 | ENSG00000065183.11 | ENST00000349139.5,ENST00000369441.3 |
exon_skip_9134 | 1 | 118496629:118496722:118497202:118497250:118497937:118497981 | 118497202:118497250 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9135 | 1 | 118497202:118497250:118497937:118497981:118499690:118499819 | 118497937:118497981 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9136 | 1 | 118497937:118497981:118499690:118499819:118501532:118501626 | 118499690:118499819 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9137 | 1 | 118499690:118499819:118501532:118501626:118501914:118509165 | 118501532:118501626 | ENSG00000065183.11 | ENST00000349139.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_9129 | 1 | 118472390:118472405:118475910:118476113:118477095:118477305 | 118475910:118476113 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9130 | 1 | 118475910:118476012:118476252:118476363:118477095:118477305 | 118476252:118476363 | ENSG00000065183.11 | ENST00000369441.3,ENST00000487202.1 |
exon_skip_9132 | 1 | 118481102:118481181:118482099:118482195:118483449:118483563 | 118482099:118482195 | ENSG00000065183.11 | ENST00000369441.3,ENST00000349139.5 |
exon_skip_9134 | 1 | 118496629:118496722:118497202:118497250:118497937:118497981 | 118497202:118497250 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9135 | 1 | 118497202:118497250:118497937:118497981:118499690:118499819 | 118497937:118497981 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9136 | 1 | 118497937:118497981:118499690:118499819:118501532:118501626 | 118499690:118499819 | ENSG00000065183.11 | ENST00000349139.5 |
exon_skip_9137 | 1 | 118499690:118499819:118501532:118501626:118501914:118509165 | 118501532:118501626 | ENSG00000065183.11 | ENST00000349139.5 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for WDR3 |
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 |
ENST00000349139 | 118475910 | 118476113 | 5CDS-5UTR |
ENST00000349139 | 118497937 | 118497981 | Frame-shift |
ENST00000349139 | 118501532 | 118501626 | Frame-shift |
ENST00000349139 | 118482099 | 118482195 | In-frame |
ENST00000349139 | 118497202 | 118497250 | In-frame |
ENST00000349139 | 118499690 | 118499819 | 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 |
ENST00000349139 | 118475910 | 118476113 | 5CDS-5UTR |
ENST00000349139 | 118497937 | 118497981 | Frame-shift |
ENST00000349139 | 118501532 | 118501626 | Frame-shift |
ENST00000349139 | 118482099 | 118482195 | In-frame |
ENST00000349139 | 118497202 | 118497250 | In-frame |
ENST00000349139 | 118499690 | 118499819 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDR3 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000349139 | 9991 | 943 | 118482099 | 118482195 | 627 | 722 | 193 | 225 |
ENST00000349139 | 9991 | 943 | 118497202 | 118497250 | 2409 | 2456 | 787 | 803 |
ENST00000349139 | 9991 | 943 | 118499690 | 118499819 | 2501 | 2629 | 818 | 860 |
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 |
ENST00000349139 | 9991 | 943 | 118482099 | 118482195 | 627 | 722 | 193 | 225 |
ENST00000349139 | 9991 | 943 | 118497202 | 118497250 | 2409 | 2456 | 787 | 803 |
ENST00000349139 | 9991 | 943 | 118499690 | 118499819 | 2501 | 2629 | 818 | 860 |
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 |
Q9UNX4 | 193 | 225 | 1 | 943 | Chain | ID=PRO_0000051347;Note=WD repeat-containing protein 3 |
Q9UNX4 | 193 | 225 | 189 | 228 | Repeat | Note=WD 5 |
Q9UNX4 | 787 | 803 | 1 | 943 | Chain | ID=PRO_0000051347;Note=WD repeat-containing protein 3 |
Q9UNX4 | 818 | 860 | 1 | 943 | Chain | ID=PRO_0000051347;Note=WD repeat-containing protein 3 |
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 |
Q9UNX4 | 193 | 225 | 1 | 943 | Chain | ID=PRO_0000051347;Note=WD repeat-containing protein 3 |
Q9UNX4 | 193 | 225 | 189 | 228 | Repeat | Note=WD 5 |
Q9UNX4 | 787 | 803 | 1 | 943 | Chain | ID=PRO_0000051347;Note=WD repeat-containing protein 3 |
Q9UNX4 | 818 | 860 | 1 | 943 | Chain | ID=PRO_0000051347;Note=WD repeat-containing protein 3 |
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SNVs in the skipped exons for WDR3 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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_9129 | 118475911 | 118476113 | 118476082 | 118476082 | Frame_Shift_Del | T | - | p.V47fs |
LIHC | TCGA-DD-A1EG-01 | 118482100 | 118482195 | 118482145 | 118482145 | Frame_Shift_Del | G | - | p.G209fs | |
LIHC | TCGA-DD-A3A0-01 | exon_skip_9135 | 118497938 | 118497981 | 118497960 | 118497960 | Frame_Shift_Del | T | - | p.I811fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_9137 | 118501533 | 118501626 | 118501583 | 118501583 | Frame_Shift_Del | A | - | p.E878fs |
LIHC | TCGA-BC-A10U-01 | exon_skip_9129 | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.P21fs |
ESCA | TCGA-LN-A8I0-01 | 118482100 | 118482195 | 118482099 | 118482099 | Splice_Site | G | T | . | |
UCEC | TCGA-BG-A0LX-01 | 118482100 | 118482195 | 118482099 | 118482099 | Splice_Site | G | T | e5-1 | |
UCEC | TCGA-BG-A0LX-01 | 118482100 | 118482195 | 118482099 | 118482099 | Splice_Site | G | T | p.V194_splice | |
PAAD | TCGA-IB-7651-01 | exon_skip_9137 | 118501533 | 118501626 | 118501532 | 118501532 | Splice_Site | G | T | . |
- 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 |
NCIH716_LARGE_INTESTINE | 118475911 | 118476113 | 118476014 | 118476014 | Frame_Shift_Del | T | - | p.G24fs |
HEC1A_ENDOMETRIUM | 118482100 | 118482195 | 118482104 | 118482104 | Frame_Shift_Del | G | - | p.W195fs |
COLO678_LARGE_INTESTINE | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
HCT15_LARGE_INTESTINE | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
LOVO_LARGE_INTESTINE | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
LS513_LARGE_INTESTINE | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
MELJUSO_SKIN | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
NCIH1694_LUNG | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
NCIH378_LUNG | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
NCIH716_LARGE_INTESTINE | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
SW1463_LARGE_INTESTINE | 118475911 | 118476113 | 118476003 | 118476004 | Frame_Shift_Ins | - | G | p.S21fs |
PACADD137_PANCREAS | 118475911 | 118476113 | 118476004 | 118476004 | Missense_Mutation | G | A | p.S21N |
SNUC5_LARGE_INTESTINE | 118475911 | 118476113 | 118476081 | 118476081 | Missense_Mutation | G | A | p.V47I |
NCIH2291_LUNG | 118482100 | 118482195 | 118482145 | 118482145 | Missense_Mutation | G | A | p.G209R |
LS411N_LARGE_INTESTINE | 118497203 | 118497250 | 118497222 | 118497222 | Missense_Mutation | C | A | p.P794H |
MDAMB361_BREAST | 118497938 | 118497981 | 118497956 | 118497956 | Missense_Mutation | G | C | p.E810Q |
PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 118499691 | 118499819 | 118499779 | 118499779 | Missense_Mutation | G | C | p.D848H |
L33_PANCREAS | 118499691 | 118499819 | 118499801 | 118499801 | Missense_Mutation | G | T | p.C855F |
HCC1569_BREAST | 118501533 | 118501626 | 118501550 | 118501550 | Missense_Mutation | T | C | p.I867T |
SNGM_ENDOMETRIUM | 118501533 | 118501626 | 118501573 | 118501573 | Missense_Mutation | C | T | p.P875S |
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118501533 | 118501626 | 118501597 | 118501597 | Missense_Mutation | A | G | p.T883A |
EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118501533 | 118501626 | 118501597 | 118501597 | Missense_Mutation | A | G | p.T883A |
SNU1_STOMACH | 118501533 | 118501626 | 118501624 | 118501624 | Missense_Mutation | C | T | p.R892W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR3 |
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 WDR3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR3 |
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RelatedDrugs for WDR3 |
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 WDR3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |