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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 RUVBL1 |
 Gene summary |
| Gene information | Gene symbol | RUVBL1 | Gene ID | 8607 |
| Gene name | RuvB like AAA ATPase 1 | |
| Synonyms | ECP-54|ECP54|INO80H|NMP 238|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49A | |
| Cytomap | 3q21.3 | |
| Type of gene | protein-coding | |
| Description | ruvB-like 149 kDa TATA box-binding protein-interacting protein49 kDa TBP-interacting protein54 kDa erythrocyte cytosolic proteinINO80 complex subunit HRuvB (E coli homolog)-like 1RuvB-like AAA ATPaseTAP54-alphaTATA binding protein interacting prot | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y265 | |
| Context | PubMed: RUVBL1 [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 |
| RUVBL1 | GO:0043967 | histone H4 acetylation | 14966270 |
| RUVBL1 | GO:0043968 | histone H2A acetylation | 14966270 |
| RUVBL1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 11080158 |
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Exon skipping events across known transcript of Ensembl for RUVBL1 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 RUVBL1 |
| 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 RUVBL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_387938 | 3 | 127783627:127784063:127787478:127787756:127801325:127801417 | 127787478:127787756 | ENSG00000175792.7 | ENST00000585057.1 |
| exon_skip_387947 | 3 | 127783627:127784063:127806548:127806651:127816142:127816339 | 127806548:127806651 | ENSG00000175792.7 | ENST00000464873.1 |
| exon_skip_387959 | 3 | 127800096:127800252:127801325:127801417:127806548:127806638 | 127801325:127801417 | ENSG00000175792.7 | ENST00000478892.1,ENST00000322623.5 |
| exon_skip_387962 | 3 | 127800024:127800252:127806548:127806651:127816142:127816339 | 127806548:127806651 | ENSG00000175792.7 | ENST00000417360.1 |
| exon_skip_387966 | 3 | 127801325:127801417:127806548:127806651:127816142:127816339 | 127806548:127806651 | ENSG00000175792.7 | ENST00000322623.5 |
| exon_skip_387967 | 3 | 127801325:127801417:127806548:127806687:127816142:127816339 | 127806548:127806687 | ENSG00000175792.7 | ENST00000478892.1 |
| exon_skip_387974 | 3 | 127817724:127817788:127819437:127819587:127820401:127820462 | 127819437:127819587 | ENSG00000175792.7 | ENST00000464873.1,ENST00000417360.1,ENST00000472125.1,ENST00000322623.5 |
| exon_skip_387978 | 3 | 127823615:127823767:127831730:127831863:127838170:127838257 | 127831730:127831863 | ENSG00000175792.7 | ENST00000464873.1,ENST00000417360.1,ENST00000322623.5 |
| exon_skip_387979 | 3 | 127831730:127831863:127838170:127838257:127842426:127842643 | 127838170:127838257 | ENSG00000175792.7 | ENST00000417360.1,ENST00000322623.5 |
| exon_skip_387980 | 3 | 127831730:127831863:127838170:127838257:127872045:127872757 | 127838170:127838257 | ENSG00000175792.7 | ENST00000464873.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RUVBL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_387938 | 3 | 127783627:127784063:127787478:127787756:127801325:127801417 | 127787478:127787756 | ENSG00000175792.7 | ENST00000585057.1 |
| exon_skip_387947 | 3 | 127783627:127784063:127806548:127806651:127816142:127816339 | 127806548:127806651 | ENSG00000175792.7 | ENST00000464873.1 |
| exon_skip_387950 | 3 | 127787478:127787756:127801325:127801417:127806548:127806638 | 127801325:127801417 | ENSG00000175792.7 | ENST00000585057.1 |
| exon_skip_387959 | 3 | 127800096:127800252:127801325:127801417:127806548:127806638 | 127801325:127801417 | ENSG00000175792.7 | ENST00000322623.5,ENST00000478892.1 |
| exon_skip_387962 | 3 | 127800024:127800252:127806548:127806651:127816142:127816339 | 127806548:127806651 | ENSG00000175792.7 | ENST00000417360.1 |
| exon_skip_387966 | 3 | 127801325:127801417:127806548:127806651:127816142:127816339 | 127806548:127806651 | ENSG00000175792.7 | ENST00000322623.5 |
| exon_skip_387967 | 3 | 127801325:127801417:127806548:127806687:127816142:127816339 | 127806548:127806687 | ENSG00000175792.7 | ENST00000478892.1 |
| exon_skip_387974 | 3 | 127817724:127817788:127819437:127819587:127820401:127820462 | 127819437:127819587 | ENSG00000175792.7 | ENST00000472125.1,ENST00000464873.1,ENST00000322623.5,ENST00000417360.1 |
| exon_skip_387978 | 3 | 127823615:127823767:127831730:127831863:127838170:127838257 | 127831730:127831863 | ENSG00000175792.7 | ENST00000464873.1,ENST00000322623.5,ENST00000417360.1 |
| exon_skip_387979 | 3 | 127831730:127831863:127838170:127838257:127842426:127842643 | 127838170:127838257 | ENSG00000175792.7 | ENST00000322623.5,ENST00000417360.1 |
| exon_skip_387980 | 3 | 127831730:127831863:127838170:127838257:127872045:127872757 | 127838170:127838257 | ENSG00000175792.7 | ENST00000464873.1 |
| 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 RUVBL1 |
| 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 RUVBL1 |
| 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 RUVBL1 |
| - 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_387959 | 127801326 | 127801417 | 127801351 | 127801351 | Frame_Shift_Del | C | - | p.E396fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_387974 | 127819438 | 127819587 | 127819499 | 127819499 | Frame_Shift_Del | T | - | p.K172fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_387974 | 127819438 | 127819587 | 127819561 | 127819561 | Frame_Shift_Del | G | - | p.A150fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_387978 | 127831731 | 127831863 | 127831806 | 127831806 | Frame_Shift_Del | T | - | p.M36fs |
| BLCA | TCGA-XF-A9T8-01 | exon_skip_387959 | 127801326 | 127801417 | 127801372 | 127801372 | Nonsense_Mutation | C | A | p.E389* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_387974 | 127819438 | 127819587 | 127819494 | 127819494 | Nonsense_Mutation | C | A | p.E233* |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127819438 | 127819587 | 127819499 | 127819499 | Frame_Shift_Del | T | - | p.K232fs |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127801326 | 127801417 | 127801377 | 127801377 | Missense_Mutation | C | T | p.S387N |
| CW2_LARGE_INTESTINE | 127801326 | 127801417 | 127801395 | 127801395 | Missense_Mutation | G | A | p.T381M |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127806549 | 127806651 | 127806591 | 127806591 | Missense_Mutation | C | G | p.M359I |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127806549 | 127806687 | 127806591 | 127806591 | Missense_Mutation | C | G | p.M359I |
| CCK81_LARGE_INTESTINE | 127806549 | 127806651 | 127806622 | 127806622 | Missense_Mutation | C | T | p.G349D |
| CCK81_LARGE_INTESTINE | 127806549 | 127806687 | 127806622 | 127806622 | Missense_Mutation | C | T | p.G349D |
| HEC108_ENDOMETRIUM | 127806549 | 127806651 | 127806632 | 127806632 | Missense_Mutation | A | G | p.S346P |
| HEC108_ENDOMETRIUM | 127806549 | 127806687 | 127806632 | 127806632 | Missense_Mutation | A | G | p.S346P |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127831731 | 127831863 | 127831815 | 127831815 | Missense_Mutation | A | C | p.F93V |
| SNU1040_LARGE_INTESTINE | 127831731 | 127831863 | 127831837 | 127831837 | Missense_Mutation | C | A | p.Q85H |
| SNU1040_LARGE_INTESTINE | 127831731 | 127831863 | 127831859 | 127831859 | Missense_Mutation | G | T | p.A78D |
| TE9_OESOPHAGUS | 127801326 | 127801417 | 127801399 | 127801399 | Nonsense_Mutation | G | A | p.Q380* |
| HEC59_ENDOMETRIUM | 127806549 | 127806651 | 127806644 | 127806644 | Nonsense_Mutation | C | A | p.E342* |
| HEC59_ENDOMETRIUM | 127806549 | 127806687 | 127806644 | 127806644 | Nonsense_Mutation | C | A | p.E342* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RUVBL1 |
| 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 RUVBL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RUVBL1 |
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RelatedDrugs for RUVBL1 |
| 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 RUVBL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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