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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 RECQL4 |
 Gene summary |
| Gene information | Gene symbol | RECQL4 | Gene ID | 9401 |
| Gene name | RecQ like helicase 4 | |
| Synonyms | RECQ4 | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | ATP-dependent DNA helicase Q4DNA helicase, RecQ-like, type 4RecQ helicase-like 4RecQ protein-like 4 | |
| Modification date | 20180523 | |
| UniProtAcc | O94761 | |
| Context | PubMed: RECQL4 [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 |
| RECQL4 | GO:0000733 | DNA strand renaturation | 19177149 |
| RECQL4 | GO:0006260 | DNA replication | 19177149 |
| RECQL4 | GO:0032508 | DNA duplex unwinding | 19177149 |
| RECQL4 | GO:0061820 | telomeric D-loop disassembly | 22039056 |
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Exon skipping events across known transcript of Ensembl for RECQL4 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 RECQL4 |
| 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 RECQL4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494388 | 8 | 145737063:145737172:145737284:145737450:145737526:145737582 | 145737284:145737450 | ENSG00000160957.8 | ENST00000531875.1 |
| exon_skip_494394 | 8 | 145737063:145737172:145737293:145737450:145737526:145737582 | 145737293:145737450 | ENSG00000160957.8 | ENST00000532237.1,ENST00000301323.3,ENST00000532269.1,ENST00000428558.2 |
| exon_skip_494421 | 8 | 145737671:145737707:145737774:145737944:145738024:145738096 | 145737774:145737944 | ENSG00000160957.8 | ENST00000532237.1,ENST00000532269.1,ENST00000428558.2,ENST00000531875.1 |
| exon_skip_494429 | 8 | 145738799:145738864:145738954:145739096:145739311:145739491 | 145738954:145739096 | ENSG00000160957.8 | ENST00000532237.1,ENST00000532269.1,ENST00000428558.2,ENST00000534626.2 |
| exon_skip_494431 | 8 | 145738954:145739096:145739311:145739491:145739572:145739746 | 145739311:145739491 | ENSG00000160957.8 | ENST00000532237.1,ENST00000532269.1,ENST00000428558.2,ENST00000532846.2,ENST00000534626.2 |
| exon_skip_494433 | 8 | 145740319:145740426:145740533:145740626:145740709:145740841 | 145740533:145740626 | ENSG00000160957.8 | ENST00000532846.2 |
| exon_skip_494434 | 8 | 145740319:145740456:145740533:145740626:145740709:145740837 | 145740533:145740626 | ENSG00000160957.8 | ENST00000532237.1,ENST00000532269.1,ENST00000428558.2 |
| exon_skip_494439 | 8 | 145740709:145740841:145741147:145741274:145741371:145741387 | 145741147:145741274 | ENSG00000160957.8 | ENST00000532237.1,ENST00000532269.1,ENST00000428558.2,ENST00000532846.2 |
| exon_skip_494444 | 8 | 145742433:145742574:145742797:145742892:145742985:145743012 | 145742797:145742892 | ENSG00000160957.8 | ENST00000532237.1,ENST00000532269.1,ENST00000428558.2 |
| exon_skip_494446 | 8 | 145742797:145742892:145742985:145743019:145743084:145743210 | 145742985:145743019 | ENSG00000160957.8 | ENST00000532269.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RECQL4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494388 | 8 | 145737063:145737172:145737284:145737450:145737526:145737582 | 145737284:145737450 | ENSG00000160957.8 | ENST00000531875.1 |
| exon_skip_494394 | 8 | 145737063:145737172:145737293:145737450:145737526:145737582 | 145737293:145737450 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1,ENST00000301323.3 |
| exon_skip_494421 | 8 | 145737671:145737707:145737774:145737944:145738024:145738096 | 145737774:145737944 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1,ENST00000531875.1 |
| exon_skip_494429 | 8 | 145738799:145738864:145738954:145739096:145739311:145739491 | 145738954:145739096 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1,ENST00000534626.2 |
| exon_skip_494431 | 8 | 145738954:145739096:145739311:145739491:145739572:145739746 | 145739311:145739491 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1,ENST00000534626.2,ENST00000532846.2 |
| exon_skip_494433 | 8 | 145740319:145740426:145740533:145740626:145740709:145740841 | 145740533:145740626 | ENSG00000160957.8 | ENST00000532846.2 |
| exon_skip_494434 | 8 | 145740319:145740456:145740533:145740626:145740709:145740837 | 145740533:145740626 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1 |
| exon_skip_494439 | 8 | 145740709:145740841:145741147:145741274:145741371:145741387 | 145741147:145741274 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1,ENST00000532846.2 |
| exon_skip_494444 | 8 | 145742433:145742574:145742797:145742892:145742985:145743012 | 145742797:145742892 | ENSG00000160957.8 | ENST00000428558.2,ENST00000532237.1,ENST00000532269.1 |
| exon_skip_494446 | 8 | 145742797:145742892:145742985:145743019:145743084:145743210 | 145742985:145743019 | ENSG00000160957.8 | ENST00000532269.1 |
| 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 RECQL4 |
| 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 RECQL4 |
| 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 RECQL4 |
| - 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-A3A1-01 | exon_skip_494431 | 145739312 | 145739491 | 145739364 | 145739364 | Frame_Shift_Del | G | - | p.P669fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_494431 | 145739312 | 145739491 | 145739482 | 145739482 | Frame_Shift_Del | C | - | p.E630fs |
| LGG | TCGA-DB-5275-01 | exon_skip_494433 exon_skip_494434 | 145740534 | 145740626 | 145740580 | 145740580 | Frame_Shift_Del | T | - | p.Q479fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_494439 | 145741148 | 145741274 | 145741231 | 145741231 | Frame_Shift_Del | C | - | p.G394fs |
| STAD | TCGA-CG-4442-01 | exon_skip_494439 | 145741148 | 145741274 | 145741231 | 145741231 | Frame_Shift_Del | C | - | p.G392fs |
| COAD | TCGA-AD-6895-01 | exon_skip_494429 | 145738955 | 145739096 | 145738994 | 145738994 | Nonsense_Mutation | G | A | p.R721X |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RECQL4 |
| 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 RECQL4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RECQL4 |
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RelatedDrugs for RECQL4 |
| 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 RECQL4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RECQL4 | C0032339 | Rothmund-Thomson syndrome | 1 | CTD_human |
| RECQL4 | C0265308 | Baller-Gerold syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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