|
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 WDR74 |
Gene summary |
Gene information | Gene symbol | WDR74 | Gene ID | 54663 |
Gene name | WD repeat domain 74 | |
Synonyms | - | |
Cytomap | 11q12.3 | |
Type of gene | protein-coding | |
Description | WD repeat-containing protein 74NOP seven-associated protein 1 | |
Modification date | 20180523 | |
UniProtAcc | Q6RFH5 | |
Context | PubMed: WDR74 [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 |
Top |
Exon skipping events across known transcript of Ensembl for WDR74 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. |
Top |
Gene isoform structures and expression levels for WDR74 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for WDR74 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_73596 | 11 | 62600429:62600603:62601089:62601146:62601263:62601409 | 62601089:62601146 | ENSG00000133316.11 | ENST00000529106.1,ENST00000525239.1,ENST00000525752.1,ENST00000544831.1,ENST00000278856.4 |
exon_skip_73602 | 11 | 62601286:62601409:62601747:62601803:62601898:62601999 | 62601747:62601803 | ENSG00000133316.11 | ENST00000529106.1,ENST00000525239.1,ENST00000311713.7,ENST00000525752.1,ENST00000544831.1,ENST00000542347.1,ENST00000543688.1,ENST00000278856.4 |
exon_skip_73605 | 11 | 62603233:62603313:62603390:62603508:62606585:62606707 | 62603390:62603508 | ENSG00000133316.11 | ENST00000541930.1 |
exon_skip_73606 | 11 | 62603233:62603313:62603432:62603508:62606585:62606707 | 62603432:62603508 | ENSG00000133316.11 | ENST00000545112.1,ENST00000529106.1,ENST00000525239.1,ENST00000311713.7,ENST00000540620.1,ENST00000525752.1,ENST00000542347.1,ENST00000453708.2,ENST00000278856.4 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for WDR74 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_73596 | 11 | 62600429:62600603:62601089:62601146:62601263:62601409 | 62601089:62601146 | ENSG00000133316.11 | ENST00000529106.1,ENST00000525239.1,ENST00000278856.4,ENST00000525752.1,ENST00000544831.1 |
exon_skip_73602 | 11 | 62601286:62601409:62601747:62601803:62601898:62601999 | 62601747:62601803 | ENSG00000133316.11 | ENST00000311713.7,ENST00000529106.1,ENST00000525239.1,ENST00000278856.4,ENST00000525752.1,ENST00000544831.1,ENST00000543688.1,ENST00000542347.1 |
exon_skip_73605 | 11 | 62603233:62603313:62603390:62603508:62606585:62606707 | 62603390:62603508 | ENSG00000133316.11 | ENST00000541930.1 |
exon_skip_73606 | 11 | 62603233:62603313:62603432:62603508:62606585:62606707 | 62603432:62603508 | ENSG00000133316.11 | ENST00000311713.7,ENST00000529106.1,ENST00000525239.1,ENST00000278856.4,ENST00000525752.1,ENST00000542347.1,ENST00000540620.1,ENST00000545112.1,ENST00000453708.2 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for WDR74 |
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 |
ENST00000278856 | 62601747 | 62601803 | Frame-shift |
ENST00000525239 | 62601747 | 62601803 | Frame-shift |
ENST00000529106 | 62601747 | 62601803 | Frame-shift |
ENST00000278856 | 62603432 | 62603508 | Frame-shift |
ENST00000525239 | 62603432 | 62603508 | Frame-shift |
ENST00000529106 | 62603432 | 62603508 | Frame-shift |
ENST00000278856 | 62601089 | 62601146 | In-frame |
ENST00000525239 | 62601089 | 62601146 | In-frame |
ENST00000529106 | 62601089 | 62601146 | 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 |
ENST00000278856 | 62601747 | 62601803 | Frame-shift |
ENST00000525239 | 62601747 | 62601803 | Frame-shift |
ENST00000529106 | 62601747 | 62601803 | Frame-shift |
ENST00000278856 | 62603432 | 62603508 | Frame-shift |
ENST00000525239 | 62603432 | 62603508 | Frame-shift |
ENST00000529106 | 62603432 | 62603508 | Frame-shift |
ENST00000278856 | 62601089 | 62601146 | In-frame |
ENST00000525239 | 62601089 | 62601146 | In-frame |
ENST00000529106 | 62601089 | 62601146 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for WDR74 |
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 |
ENST00000278856 | 1306 | 385 | 62601089 | 62601146 | 1013 | 1069 | 307 | 326 |
ENST00000525239 | 1753 | 385 | 62601089 | 62601146 | 1460 | 1516 | 307 | 326 |
ENST00000529106 | 1383 | 385 | 62601089 | 62601146 | 1090 | 1146 | 307 | 326 |
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 |
ENST00000278856 | 1306 | 385 | 62601089 | 62601146 | 1013 | 1069 | 307 | 326 |
ENST00000525239 | 1753 | 385 | 62601089 | 62601146 | 1460 | 1516 | 307 | 326 |
ENST00000529106 | 1383 | 385 | 62601089 | 62601146 | 1090 | 1146 | 307 | 326 |
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 |
Q6RFH5 | 307 | 326 | 308 | 326 | Alternative sequence | ID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6RFH5 | 307 | 326 | 308 | 326 | Alternative sequence | ID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6RFH5 | 307 | 326 | 308 | 326 | Alternative sequence | ID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6RFH5 | 307 | 326 | 1 | 385 | Chain | ID=PRO_0000051428;Note=WD repeat-containing protein 74 |
Q6RFH5 | 307 | 326 | 1 | 385 | Chain | ID=PRO_0000051428;Note=WD repeat-containing protein 74 |
Q6RFH5 | 307 | 326 | 1 | 385 | Chain | ID=PRO_0000051428;Note=WD repeat-containing protein 74 |
Q6RFH5 | 307 | 326 | 311 | 311 | Modified residue | Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
Q6RFH5 | 307 | 326 | 311 | 311 | Modified residue | Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
Q6RFH5 | 307 | 326 | 311 | 311 | Modified residue | Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
Q6RFH5 | 307 | 326 | 320 | 385 | Region | Note=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111 |
Q6RFH5 | 307 | 326 | 320 | 385 | Region | Note=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111 |
Q6RFH5 | 307 | 326 | 320 | 385 | Region | Note=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111 |
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 |
Q6RFH5 | 307 | 326 | 308 | 326 | Alternative sequence | ID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6RFH5 | 307 | 326 | 308 | 326 | Alternative sequence | ID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6RFH5 | 307 | 326 | 308 | 326 | Alternative sequence | ID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q6RFH5 | 307 | 326 | 1 | 385 | Chain | ID=PRO_0000051428;Note=WD repeat-containing protein 74 |
Q6RFH5 | 307 | 326 | 1 | 385 | Chain | ID=PRO_0000051428;Note=WD repeat-containing protein 74 |
Q6RFH5 | 307 | 326 | 1 | 385 | Chain | ID=PRO_0000051428;Note=WD repeat-containing protein 74 |
Q6RFH5 | 307 | 326 | 311 | 311 | Modified residue | Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
Q6RFH5 | 307 | 326 | 311 | 311 | Modified residue | Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
Q6RFH5 | 307 | 326 | 311 | 311 | Modified residue | Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
Q6RFH5 | 307 | 326 | 320 | 385 | Region | Note=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111 |
Q6RFH5 | 307 | 326 | 320 | 385 | Region | Note=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111 |
Q6RFH5 | 307 | 326 | 320 | 385 | Region | Note=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111 |
Top |
SNVs in the skipped exons for WDR74 |
- 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 |
BRCA | TCGA-B6-A0WS-01 | exon_skip_73605 | 62603391 | 62603508 | 62603453 | 62603453 | Nonsense_Mutation | T | A | p.K117* |
BRCA | TCGA-B6-A0WS-01 | exon_skip_73606 | 62603433 | 62603508 | 62603453 | 62603453 | Nonsense_Mutation | T | A | p.K117* |
KIRC | TCGA-B4-5377-01 | exon_skip_73596 | 62601090 | 62601146 | 62601147 | 62601147 | Splice_Site | C | A | . |
- 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 |
NCIH2228_LUNG | 62601090 | 62601146 | 62601119 | 62601119 | Missense_Mutation | G | C | p.L317V |
SNU423_LIVER | 62601748 | 62601803 | 62601753 | 62601753 | Missense_Mutation | C | T | p.R257Q |
LOVO_LARGE_INTESTINE | 62603391 | 62603508 | 62603506 | 62603506 | Missense_Mutation | G | A | p.T99I |
LOVO_LARGE_INTESTINE | 62603433 | 62603508 | 62603506 | 62603506 | Missense_Mutation | G | A | p.T99I |
MFE296_ENDOMETRIUM | 62601748 | 62601803 | 62601748 | 62601748 | Splice_Site | C | A | p.G259W |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR74 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR74 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR74 |
Top |
RelatedDrugs for WDR74 |
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 |
Top |
RelatedDiseases for WDR74 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
WDR74 | C0025202 | melanoma | 1 | CTD_human |