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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 RECQL |
 Gene summary |
| Gene information | Gene symbol | RECQL | Gene ID | 5965 |
| Gene name | RecQ like helicase | |
| Synonyms | RECQL1|RecQ1 | |
| Cytomap | 12p12.1 | |
| Type of gene | protein-coding | |
| Description | ATP-dependent DNA helicase Q1DNA helicase, RecQ-like type 1DNA-dependent ATPase Q1RecQ helicase-likeRecQ protein-like (DNA helicase Q1-like)recQ protein-like 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P46063 | |
| Context | PubMed: RECQL [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 |
| RECQL | GO:0000733 | DNA strand renaturation | 19177149 |
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Exon skipping events across known transcript of Ensembl for RECQL 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 RECQL |
| 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 RECQL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90439 | 12 | 21622735:21623280:21623902:21624032:21624361:21624581 | 21623902:21624032 | ENSG00000004700.11 | ENST00000421138.2,ENST00000444129.2 |
| exon_skip_90442 | 12 | 21629844:21629926:21630736:21630903:21636309:21636508 | 21630736:21630903 | ENSG00000004700.11 | ENST00000421138.2,ENST00000444129.2 |
| exon_skip_90443 | 12 | 21636410:21636508:21639412:21639519:21643132:21643312 | 21639412:21639519 | ENSG00000004700.11 | ENST00000421138.2,ENST00000396093.3,ENST00000314748.6,ENST00000444129.2 |
| exon_skip_90444 | 12 | 21643308:21643312:21644452:21644650:21652488:21652549 | 21644452:21644650 | ENSG00000004700.11 | ENST00000421138.2,ENST00000542432.1,ENST00000396093.3,ENST00000314748.6,ENST00000536964.1,ENST00000539672.1,ENST00000444129.2,ENST00000536240.1 |
| exon_skip_90451 | 12 | 21652488:21652549:21654103:21654149:21654346:21654485 | 21654103:21654149 | ENSG00000004700.11 | ENST00000421138.2 |
| exon_skip_90452 | 12 | 21652488:21652549:21654103:21654149:21654396:21654597 | 21654103:21654149 | ENSG00000004700.11 | ENST00000396093.3 |
| exon_skip_90453 | 12 | 21652488:21652549:21654103:21654149:21654414:21654527 | 21654103:21654149 | ENSG00000004700.11 | ENST00000542432.1 |
| exon_skip_90454 | 12 | 21652488:21652549:21654103:21654306:21654396:21654597 | 21654103:21654306 | ENSG00000004700.11 | ENST00000314748.6 |
| exon_skip_90455 | 12 | 21652488:21652549:21654103:21654306:21654414:21654527 | 21654103:21654306 | ENSG00000004700.11 | ENST00000539672.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RECQL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90439 | 12 | 21622735:21623280:21623902:21624032:21624361:21624581 | 21623902:21624032 | ENSG00000004700.11 | ENST00000444129.2,ENST00000421138.2 |
| exon_skip_90442 | 12 | 21629844:21629926:21630736:21630903:21636309:21636508 | 21630736:21630903 | ENSG00000004700.11 | ENST00000444129.2,ENST00000421138.2 |
| exon_skip_90443 | 12 | 21636410:21636508:21639412:21639519:21643132:21643312 | 21639412:21639519 | ENSG00000004700.11 | ENST00000444129.2,ENST00000421138.2,ENST00000396093.3,ENST00000314748.6 |
| exon_skip_90444 | 12 | 21643308:21643312:21644452:21644650:21652488:21652549 | 21644452:21644650 | ENSG00000004700.11 | ENST00000444129.2,ENST00000421138.2,ENST00000396093.3,ENST00000314748.6,ENST00000542432.1,ENST00000536240.1,ENST00000536964.1,ENST00000539672.1 |
| exon_skip_90451 | 12 | 21652488:21652549:21654103:21654149:21654346:21654485 | 21654103:21654149 | ENSG00000004700.11 | ENST00000421138.2 |
| exon_skip_90452 | 12 | 21652488:21652549:21654103:21654149:21654396:21654597 | 21654103:21654149 | ENSG00000004700.11 | ENST00000396093.3 |
| exon_skip_90453 | 12 | 21652488:21652549:21654103:21654149:21654414:21654527 | 21654103:21654149 | ENSG00000004700.11 | ENST00000542432.1 |
| exon_skip_90454 | 12 | 21652488:21652549:21654103:21654306:21654396:21654597 | 21654103:21654306 | ENSG00000004700.11 | ENST00000314748.6 |
| exon_skip_90455 | 12 | 21652488:21652549:21654103:21654306:21654414:21654527 | 21654103:21654306 | ENSG00000004700.11 | ENST00000539672.1 |
| 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 RECQL |
| 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 |
| ENST00000421138 | 21654103 | 21654149 | 3UTR-3UTR |
| ENST00000421138 | 21623902 | 21624032 | Frame-shift |
| ENST00000444129 | 21623902 | 21624032 | Frame-shift |
| ENST00000421138 | 21630736 | 21630903 | Frame-shift |
| ENST00000444129 | 21630736 | 21630903 | Frame-shift |
| ENST00000421138 | 21639412 | 21639519 | Frame-shift |
| ENST00000444129 | 21639412 | 21639519 | Frame-shift |
| ENST00000421138 | 21644452 | 21644650 | In-frame |
| ENST00000444129 | 21644452 | 21644650 | 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 |
| ENST00000421138 | 21654103 | 21654149 | 3UTR-3UTR |
| ENST00000421138 | 21623902 | 21624032 | Frame-shift |
| ENST00000444129 | 21623902 | 21624032 | Frame-shift |
| ENST00000421138 | 21630736 | 21630903 | Frame-shift |
| ENST00000444129 | 21630736 | 21630903 | Frame-shift |
| ENST00000421138 | 21639412 | 21639519 | Frame-shift |
| ENST00000444129 | 21639412 | 21639519 | Frame-shift |
| ENST00000421138 | 21644452 | 21644650 | In-frame |
| ENST00000444129 | 21644452 | 21644650 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RECQL |
| 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 |
| ENST00000421138 | 2589 | 649 | 21644452 | 21644650 | 247 | 444 | 5 | 71 |
| ENST00000444129 | 3719 | 649 | 21644452 | 21644650 | 486 | 683 | 5 | 71 |
| 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 |
| ENST00000421138 | 2589 | 649 | 21644452 | 21644650 | 247 | 444 | 5 | 71 |
| ENST00000444129 | 3719 | 649 | 21644452 | 21644650 | 486 | 683 | 5 | 71 |
| 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 |
| P46063 | 5 | 71 | 1 | 649 | Chain | ID=PRO_0000205049;Note=ATP-dependent DNA helicase Q1 |
| P46063 | 5 | 71 | 1 | 649 | Chain | ID=PRO_0000205049;Note=ATP-dependent DNA helicase Q1 |
| P46063 | 5 | 71 | 65 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V1X |
| P46063 | 5 | 71 | 65 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V1X |
| 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 |
| P46063 | 5 | 71 | 1 | 649 | Chain | ID=PRO_0000205049;Note=ATP-dependent DNA helicase Q1 |
| P46063 | 5 | 71 | 1 | 649 | Chain | ID=PRO_0000205049;Note=ATP-dependent DNA helicase Q1 |
| P46063 | 5 | 71 | 65 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V1X |
| P46063 | 5 | 71 | 65 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2V1X |
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SNVs in the skipped exons for RECQL |
| - 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-G3-A3CJ-01 | exon_skip_90439 | 21623903 | 21624032 | 21623933 | 21623933 | Frame_Shift_Del | T | - | p.Q589fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_90443 | 21639413 | 21639519 | 21639458 | 21639458 | Frame_Shift_Del | T | - | p.K152fs |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_90443 | 21639413 | 21639519 | 21639515 | 21639515 | Frame_Shift_Del | A | - | p.F133fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_90444 | 21644453 | 21644650 | 21644498 | 21644498 | Frame_Shift_Del | C | - | p.A57fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_90439 | 21623903 | 21624032 | 21623985 | 21623986 | Frame_Shift_Ins | - | TT | p.R572fs |
| BLCA | TCGA-4Z-AA7Q-01 | exon_skip_90444 | 21644453 | 21644650 | 21644546 | 21644547 | Frame_Shift_Ins | - | T | p.V41fs |
| SARC | TCGA-SG-A849-01 | exon_skip_90444 | 21644453 | 21644650 | 21644546 | 21644547 | Frame_Shift_Ins | - | T | p.V40fs |
| TGCT | TCGA-VF-A8A8-01 | exon_skip_90444 | 21644453 | 21644650 | 21644546 | 21644547 | Frame_Shift_Ins | - | T | p.NP40fs |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_90442 | 21630737 | 21630903 | 21630874 | 21630874 | Nonsense_Mutation | G | A | p.Q244* |
| LUAD | TCGA-71-8520-01 | exon_skip_90444 | 21644453 | 21644650 | 21644597 | 21644597 | Nonsense_Mutation | G | A | p.Q24* |
| - 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 |
| SNU520_STOMACH | 21623903 | 21624032 | 21624017 | 21624017 | Frame_Shift_Del | A | - | p.F561fs |
| LS411N_LARGE_INTESTINE | 21630737 | 21630903 | 21630761 | 21630761 | Frame_Shift_Del | A | - | p.F281fs |
| LS411N_LARGE_INTESTINE | 21623903 | 21624032 | 21623905 | 21623905 | Missense_Mutation | T | C | p.R599G |
| NUGC4_STOMACH | 21644453 | 21644650 | 21644458 | 21644458 | Missense_Mutation | T | A | p.K70I |
| HEC251_ENDOMETRIUM | 21644453 | 21644650 | 21644535 | 21644535 | Missense_Mutation | C | A | p.K44N |
| EFE184_ENDOMETRIUM | 21644453 | 21644650 | 21644629 | 21644629 | Missense_Mutation | G | T | p.S13Y |
| SNUC1_LARGE_INTESTINE | 21630737 | 21630903 | 21630880 | 21630880 | Nonsense_Mutation | T | A | p.K242* |
| LNCAPCLONEFGC_PROSTATE | 21644453 | 21644650 | 21644453 | 21644453 | Splice_Site | C | A | p.D72Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RECQL |
| 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 RECQL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RECQL |
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RelatedDrugs for RECQL |
| 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 RECQL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RECQL | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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