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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 SMURF2 |
 Gene summary |
| Gene information | Gene symbol | SMURF2 | Gene ID | 64750 |
| Gene name | SMAD specific E3 ubiquitin protein ligase 2 | |
| Synonyms | - | |
| Cytomap | 17q23.3-q24.1 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase SMURF2E3 ubiquitin ligase SMURF2HECT-type E3 ubiquitin transferase SMURF2SMAD ubiquitination regulatory factor 2hSMURF2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HAU4 | |
| Context | PubMed: SMURF2 [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 |
| SMURF2 | GO:0006511 | ubiquitin-dependent protein catabolic process | 14755250 |
| SMURF2 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 19255252 |
| SMURF2 | GO:0030579 | ubiquitin-dependent SMAD protein catabolic process | 19122240 |
| SMURF2 | GO:1901165 | positive regulation of trophoblast cell migration | 19255252 |
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Exon skipping events across known transcript of Ensembl for SMURF2 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 SMURF2 |
| 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 SMURF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292491 | 17 | 62543717:62543919:62547701:62547822:62550973:62551111 | 62547701:62547822 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1,ENST00000262435.9 |
| exon_skip_292493 | 17 | 62557617:62557721:62558888:62559084:62567915:62568074 | 62558888:62559084 | ENSG00000108854.11 | ENST00000582081.1,ENST00000585301.1,ENST00000578386.1,ENST00000262435.9 |
| exon_skip_292495 | 17 | 62559000:62559084:62567915:62568074:62574609:62574694 | 62567915:62568074 | ENSG00000108854.11 | ENST00000582081.1,ENST00000585301.1,ENST00000578386.1,ENST00000262435.9 |
| exon_skip_292497 | 17 | 62567915:62568074:62574609:62574694:62576906:62577109 | 62574609:62574694 | ENSG00000108854.11 | ENST00000582081.1,ENST00000585301.1,ENST00000578386.1,ENST00000262435.9 |
| exon_skip_292502 | 17 | 62579578:62579662:62582203:62582288:62587201:62587262 | 62582203:62582288 | ENSG00000108854.11 | ENST00000582081.1,ENST00000585301.1,ENST00000262435.9 |
| exon_skip_292507 | 17 | 62582203:62582288:62587201:62587267:62589557:62589691 | 62587201:62587267 | ENSG00000108854.11 | ENST00000582081.1,ENST00000585301.1,ENST00000262435.9 |
| exon_skip_292509 | 17 | 62589623:62589691:62590108:62590222:62594499:62594563 | 62590108:62590222 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1 |
| exon_skip_292510 | 17 | 62589557:62589691:62594499:62594608:62657946:62658015 | 62594499:62594608 | ENSG00000108854.11 | ENST00000585301.1 |
| exon_skip_292511 | 17 | 62594499:62594608:62602719:62602758:62657946:62658015 | 62602719:62602758 | ENSG00000108854.11 | ENST00000578386.1,ENST00000262435.9 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SMURF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292491 | 17 | 62543717:62543919:62547701:62547822:62550973:62551111 | 62547701:62547822 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1,ENST00000262435.9 |
| exon_skip_292493 | 17 | 62557617:62557721:62558888:62559084:62567915:62568074 | 62558888:62559084 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1,ENST00000262435.9,ENST00000585301.1 |
| exon_skip_292495 | 17 | 62559000:62559084:62567915:62568074:62574609:62574694 | 62567915:62568074 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1,ENST00000262435.9,ENST00000585301.1 |
| exon_skip_292497 | 17 | 62567915:62568074:62574609:62574694:62576906:62577109 | 62574609:62574694 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1,ENST00000262435.9,ENST00000585301.1 |
| exon_skip_292502 | 17 | 62579578:62579662:62582203:62582288:62587201:62587262 | 62582203:62582288 | ENSG00000108854.11 | ENST00000582081.1,ENST00000262435.9,ENST00000585301.1 |
| exon_skip_292505 | 17 | 62579578:62579662:62587201:62587267:62589557:62589691 | 62587201:62587267 | ENSG00000108854.11 | ENST00000578386.1 |
| exon_skip_292507 | 17 | 62582203:62582288:62587201:62587267:62589557:62589691 | 62587201:62587267 | ENSG00000108854.11 | ENST00000582081.1,ENST00000262435.9,ENST00000585301.1 |
| exon_skip_292509 | 17 | 62589623:62589691:62590108:62590222:62594499:62594563 | 62590108:62590222 | ENSG00000108854.11 | ENST00000582081.1,ENST00000578386.1 |
| exon_skip_292511 | 17 | 62594499:62594608:62602719:62602758:62657946:62658015 | 62602719:62602758 | ENSG00000108854.11 | ENST00000578386.1,ENST00000262435.9 |
| 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 SMURF2 |
| 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 |
| ENST00000262435 | 62547701 | 62547822 | Frame-shift |
| ENST00000262435 | 62558888 | 62559084 | Frame-shift |
| ENST00000262435 | 62574609 | 62574694 | Frame-shift |
| ENST00000262435 | 62582203 | 62582288 | Frame-shift |
| ENST00000262435 | 62567915 | 62568074 | In-frame |
| ENST00000262435 | 62587201 | 62587267 | In-frame |
| ENST00000262435 | 62602719 | 62602758 | 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 |
| ENST00000262435 | 62547701 | 62547822 | Frame-shift |
| ENST00000262435 | 62558888 | 62559084 | Frame-shift |
| ENST00000262435 | 62574609 | 62574694 | Frame-shift |
| ENST00000262435 | 62582203 | 62582288 | Frame-shift |
| ENST00000262435 | 62567915 | 62568074 | In-frame |
| ENST00000262435 | 62587201 | 62587267 | In-frame |
| ENST00000262435 | 62602719 | 62602758 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SMURF2 |
| 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 |
| ENST00000262435 | 2935 | 748 | 62602719 | 62602758 | 241 | 279 | 17 | 30 |
| ENST00000262435 | 2935 | 748 | 62587201 | 62587267 | 523 | 588 | 111 | 133 |
| ENST00000262435 | 2935 | 748 | 62567915 | 62568074 | 1046 | 1204 | 286 | 338 |
| 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 |
| ENST00000262435 | 2935 | 748 | 62602719 | 62602758 | 241 | 279 | 17 | 30 |
| ENST00000262435 | 2935 | 748 | 62587201 | 62587267 | 523 | 588 | 111 | 133 |
| ENST00000262435 | 2935 | 748 | 62567915 | 62568074 | 1046 | 1204 | 286 | 338 |
| 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 |
| Q9HAU4 | 17 | 30 | 12 | 23 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JQZ |
| Q9HAU4 | 17 | 30 | 1 | 748 | Chain | ID=PRO_0000120329;Note=E3 ubiquitin-protein ligase SMURF2 |
| Q9HAU4 | 17 | 30 | 1 | 98 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q9HAU4 | 17 | 30 | 29 | 29 | Mutagenesis | Note=Increases autoubiquitination%3B when associated with A-30. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17719543;Dbxref=PMID:17719543 |
| Q9HAU4 | 17 | 30 | 30 | 30 | Mutagenesis | Note=Increases autoubiquitination%3B when associated with A-29. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17719543;Dbxref=PMID:17719543 |
| Q9HAU4 | 111 | 133 | 113 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JQZ |
| Q9HAU4 | 111 | 133 | 131 | 138 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JQZ |
| Q9HAU4 | 111 | 133 | 1 | 748 | Chain | ID=PRO_0000120329;Note=E3 ubiquitin-protein ligase SMURF2 |
| Q9HAU4 | 286 | 338 | 286 | 288 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXQ |
| Q9HAU4 | 286 | 338 | 301 | 307 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 309 | 311 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 313 | 317 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 322 | 326 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 1 | 748 | Chain | ID=PRO_0000120329;Note=E3 ubiquitin-protein ligase SMURF2 |
| Q9HAU4 | 286 | 338 | 297 | 330 | Domain | Note=WW 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00224 |
| Q9HAU4 | 286 | 338 | 293 | 295 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXQ |
| Q9HAU4 | 286 | 338 | 297 | 330 | Mutagenesis | Note=Abolishes interaction with SMAD7. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11163210;Dbxref=PMID:11163210 |
| Q9HAU4 | 286 | 338 | 318 | 321 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 328 | 330 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| 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 |
| Q9HAU4 | 17 | 30 | 12 | 23 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JQZ |
| Q9HAU4 | 17 | 30 | 1 | 748 | Chain | ID=PRO_0000120329;Note=E3 ubiquitin-protein ligase SMURF2 |
| Q9HAU4 | 17 | 30 | 1 | 98 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q9HAU4 | 17 | 30 | 29 | 29 | Mutagenesis | Note=Increases autoubiquitination%3B when associated with A-30. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17719543;Dbxref=PMID:17719543 |
| Q9HAU4 | 17 | 30 | 30 | 30 | Mutagenesis | Note=Increases autoubiquitination%3B when associated with A-29. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17719543;Dbxref=PMID:17719543 |
| Q9HAU4 | 111 | 133 | 113 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JQZ |
| Q9HAU4 | 111 | 133 | 131 | 138 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JQZ |
| Q9HAU4 | 111 | 133 | 1 | 748 | Chain | ID=PRO_0000120329;Note=E3 ubiquitin-protein ligase SMURF2 |
| Q9HAU4 | 286 | 338 | 286 | 288 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXQ |
| Q9HAU4 | 286 | 338 | 301 | 307 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 309 | 311 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 313 | 317 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 322 | 326 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 1 | 748 | Chain | ID=PRO_0000120329;Note=E3 ubiquitin-protein ligase SMURF2 |
| Q9HAU4 | 286 | 338 | 297 | 330 | Domain | Note=WW 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00224 |
| Q9HAU4 | 286 | 338 | 293 | 295 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXQ |
| Q9HAU4 | 286 | 338 | 297 | 330 | Mutagenesis | Note=Abolishes interaction with SMAD7. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11163210;Dbxref=PMID:11163210 |
| Q9HAU4 | 286 | 338 | 318 | 321 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
| Q9HAU4 | 286 | 338 | 328 | 330 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DJY |
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SNVs in the skipped exons for SMURF2 |
| - 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_292491 | 62547702 | 62547822 | 62547799 | 62547799 | Frame_Shift_Del | A | - | p.L591fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_292493 | 62558889 | 62559084 | 62558951 | 62558951 | Frame_Shift_Del | A | - | p.S384fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_292495 | 62567916 | 62568074 | 62567988 | 62567988 | Frame_Shift_Del | A | - | p.F315fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_292507 | 62587202 | 62587267 | 62587239 | 62587239 | Frame_Shift_Del | C | - | p.G121fs |
| LIHC | TCGA-DD-A39Y-01 | 62594500 | 62594608 | 62594521 | 62594521 | Frame_Shift_Del | T | - | p.K60fs | |
| STAD | TCGA-BR-4184-01 | exon_skip_292497 | 62574610 | 62574694 | 62574630 | 62574630 | Nonsense_Mutation | C | T | p.W279* |
| HNSC | TCGA-CN-A6V3-01 | exon_skip_292502 | 62582204 | 62582288 | 62582256 | 62582256 | Nonsense_Mutation | C | A | p.G145* |
| UCEC | TCGA-D1-A176-01 | exon_skip_292495 | 62567916 | 62568074 | 62567914 | 62567914 | Splice_Site | A | T | p.N339_splice |
| UCEC | TCGA-D1-A176-01 | exon_skip_292511 | 62602720 | 62602758 | 62602719 | 62602719 | Splice_Site | C | T | p.R31_splice |
| - 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 62547702 | 62547822 | 62547748 | 62547748 | Missense_Mutation | A | G | p.V608A |
| MCF7_BREAST | 62547702 | 62547822 | 62547815 | 62547815 | Missense_Mutation | C | A | p.V586L |
| COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62558889 | 62559084 | 62558920 | 62558920 | Missense_Mutation | C | T | p.R394H |
| MEWO_SKIN | 62558889 | 62559084 | 62558950 | 62558950 | Missense_Mutation | G | A | p.S384F |
| DV90_LUNG | 62558889 | 62559084 | 62558962 | 62558962 | Missense_Mutation | C | T | p.R380Q |
| SNU423_LIVER | 62558889 | 62559084 | 62559019 | 62559019 | Missense_Mutation | T | A | p.E361V |
| HEC6_ENDOMETRIUM | 62574610 | 62574694 | 62574682 | 62574682 | Missense_Mutation | G | A | p.T262M |
| IGROV1_OVARY | 62574610 | 62574694 | 62574688 | 62574688 | Missense_Mutation | C | A | p.R260M |
| HCC2450_LUNG | 62582204 | 62582288 | 62582223 | 62582223 | Missense_Mutation | C | T | p.D156N |
| HS274T_BREAST | 62582204 | 62582288 | 62582234 | 62582234 | Missense_Mutation | C | T | p.S152N |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 62547702 | 62547822 | 62547797 | 62547797 | Nonsense_Mutation | G | A | p.R592* |
| NCIH1395_LUNG | 62547702 | 62547822 | 62547797 | 62547797 | Nonsense_Mutation | G | A | p.R592* |
| EN_ENDOMETRIUM | 62582204 | 62582288 | 62582288 | 62582288 | Splice_Site | A | G | p.V134A |
| UBLC1_URINARY_TRACT | 62602720 | 62602758 | 62602720 | 62602720 | Splice_Site | G | A | p.R31* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMURF2 |
| 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 SMURF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMURF2 |
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RelatedDrugs for SMURF2 |
| 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 SMURF2 |
| 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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