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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 SMO |
 Gene summary |
| Gene information | Gene symbol | SMO | Gene ID | 6608 |
| Gene name | smoothened, frizzled class receptor | |
| Synonyms | CRJS|FZD11|Gx|SMOH | |
| Cytomap | 7q32.1 | |
| Type of gene | protein-coding | |
| Description | smoothened homologfrizzled family member 11protein Gxseven transmembrane helix receptorsmoothened, frizzled family receptorsmoothened, seven transmembrane spanning receptor | |
| Modification date | 20180523 | |
| UniProtAcc | Q99835 | |
| Context | PubMed: SMO [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 |
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Exon skipping events across known transcript of Ensembl for SMO 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 SMO |
| 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 SMO |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471136 | 7 | 128845621:128845623:128845990:128846210:128846304:128846428 | 128845990:128846210 | ENSG00000128602.5 | ENST00000249373.3,ENST00000462420.1 |
| exon_skip_471137 | 7 | 128848625:128848692:128849129:128849238:128850203:128850389 | 128849129:128849238 | ENSG00000128602.5 | ENST00000249373.3 |
| exon_skip_471139 | 7 | 128848599:128848692:128850203:128850389:128850805:128850954 | 128850203:128850389 | ENSG00000128602.5 | ENST00000462420.1 |
| exon_skip_471141 | 7 | 128849129:128849238:128850203:128850389:128850805:128850954 | 128850203:128850389 | ENSG00000128602.5 | ENST00000249373.3 |
| exon_skip_471143 | 7 | 128850805:128850954:128851223:128851351:128851476:128851611 | 128851223:128851351 | ENSG00000128602.5 | ENST00000475779.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SMO |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471136 | 7 | 128845621:128845623:128845990:128846210:128846304:128846428 | 128845990:128846210 | ENSG00000128602.5 | ENST00000249373.3,ENST00000462420.1 |
| exon_skip_471137 | 7 | 128848625:128848692:128849129:128849238:128850203:128850389 | 128849129:128849238 | ENSG00000128602.5 | ENST00000249373.3 |
| exon_skip_471139 | 7 | 128848599:128848692:128850203:128850389:128850805:128850954 | 128850203:128850389 | ENSG00000128602.5 | ENST00000462420.1 |
| exon_skip_471141 | 7 | 128849129:128849238:128850203:128850389:128850805:128850954 | 128850203:128850389 | ENSG00000128602.5 | ENST00000249373.3 |
| exon_skip_471143 | 7 | 128850805:128850954:128851223:128851351:128851476:128851611 | 128851223:128851351 | ENSG00000128602.5 | ENST00000475779.1 |
| 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 SMO |
| 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 |
| ENST00000249373 | 128845990 | 128846210 | Frame-shift |
| ENST00000249373 | 128849129 | 128849238 | Frame-shift |
| ENST00000249373 | 128850203 | 128850389 | 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 |
| ENST00000249373 | 128845990 | 128846210 | Frame-shift |
| ENST00000249373 | 128849129 | 128849238 | Frame-shift |
| ENST00000249373 | 128850203 | 128850389 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SMO |
| 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 |
| ENST00000249373 | 3755 | 787 | 128850203 | 128850389 | 1747 | 1932 | 489 | 550 |
| 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 |
| ENST00000249373 | 3755 | 787 | 128850203 | 128850389 | 1747 | 1932 | 489 | 550 |
| 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 |
| Q99835 | 489 | 550 | 501 | 503 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V56 |
| Q99835 | 489 | 550 | 28 | 787 | Chain | ID=PRO_0000013015;Note=Smoothened homolog |
| Q99835 | 489 | 550 | 490 | 507 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00090,ECO:0000269|PubMed:23636324;Dbxref=PMID:23636324 |
| Q99835 | 489 | 550 | 443 | 492 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 515 | 532 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 533 | 536 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 539 | 548 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 535 | 535 | Natural variant | ID=VAR_007848;Note=In basal cell carcinoma and ameloblastoma samples%3B somatic mutation%3B constitutive activation of the smoothened signaling pathway. W->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24859340,ECO:0000269|PubMed:942 |
| Q99835 | 489 | 550 | 538 | 569 | Region | Note=Interaction with BBS5 and BBS7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22072986;Dbxref=PMID:22072986 |
| Q99835 | 489 | 550 | 473 | 524 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99835 | 489 | 550 | 546 | 787 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99835 | 489 | 550 | 525 | 545 | Transmembrane | Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q99835 | 489 | 550 | 501 | 503 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V56 |
| Q99835 | 489 | 550 | 28 | 787 | Chain | ID=PRO_0000013015;Note=Smoothened homolog |
| Q99835 | 489 | 550 | 490 | 507 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00090,ECO:0000269|PubMed:23636324;Dbxref=PMID:23636324 |
| Q99835 | 489 | 550 | 443 | 492 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 515 | 532 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 533 | 536 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 539 | 548 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JKV |
| Q99835 | 489 | 550 | 535 | 535 | Natural variant | ID=VAR_007848;Note=In basal cell carcinoma and ameloblastoma samples%3B somatic mutation%3B constitutive activation of the smoothened signaling pathway. W->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24859340,ECO:0000269|PubMed:942 |
| Q99835 | 489 | 550 | 538 | 569 | Region | Note=Interaction with BBS5 and BBS7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22072986;Dbxref=PMID:22072986 |
| Q99835 | 489 | 550 | 473 | 524 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99835 | 489 | 550 | 546 | 787 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99835 | 489 | 550 | 525 | 545 | Transmembrane | Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SMO |
| - 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_471141 exon_skip_471139 | 128850204 | 128850389 | 128850226 | 128850226 | Frame_Shift_Del | G | - | p.G497fs |
| KICH | TCGA-KO-8404-01 | exon_skip_471136 | 128845991 | 128846210 | 128846110 | 128846111 | Frame_Shift_Ins | - | C | p.G347fs |
| KIRC | TCGA-AK-3456-01 | exon_skip_471137 | 128849130 | 128849238 | 128849175 | 128849176 | Frame_Shift_Ins | - | C | p.S468fs |
| UCEC | TCGA-AP-A051-01 | exon_skip_471141 exon_skip_471139 | 128850204 | 128850389 | 128850207 | 128850207 | Nonsense_Mutation | T | A | p.C490* |
| - 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 |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128845991 | 128846210 | 128846013 | 128846013 | Missense_Mutation | G | T | p.V315F |
| SNGM_ENDOMETRIUM | 128845991 | 128846210 | 128846034 | 128846034 | Missense_Mutation | T | C | p.Y322H |
| LOVO_LARGE_INTESTINE | 128845991 | 128846210 | 128846040 | 128846040 | Missense_Mutation | G | A | p.A324T |
| M980513_SKIN | 128845991 | 128846210 | 128846041 | 128846041 | Missense_Mutation | C | T | p.A324V |
| SNU1040_LARGE_INTESTINE | 128845991 | 128846210 | 128846130 | 128846130 | Missense_Mutation | T | C | p.S354P |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 128849130 | 128849238 | 128849189 | 128849189 | Missense_Mutation | G | A | p.D473N |
| CORL279_LUNG | 128850204 | 128850389 | 128850227 | 128850227 | Missense_Mutation | G | T | p.G497V |
| MEWO_SKIN | 128850204 | 128850389 | 128850250 | 128850250 | Missense_Mutation | C | T | p.P505S |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128850204 | 128850389 | 128850253 | 128850253 | Missense_Mutation | G | A | p.D506N |
| SNU1040_LARGE_INTESTINE | 128850204 | 128850389 | 128850272 | 128850272 | Missense_Mutation | G | A | p.R512H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMO |
| 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 SMO |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMO |
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RelatedDrugs for SMO |
| 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 |
| Q99835 | DB01047 | Fluocinonide | Smoothened homolog | small molecule | approved|investigational | |
| Q99835 | DB08828 | Vismodegib | Smoothened homolog | small molecule | approved|investigational | |
| Q99835 | DB09143 | Sonidegib | Smoothened homolog | small molecule | approved|investigational | |
| Q99835 | DB06786 | Halcinonide | Smoothened homolog | small molecule | approved|investigational|withdrawn |
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RelatedDiseases for SMO |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SMO | C0007117 | Basal cell carcinoma | 2 | CTD_human;HPO |
| SMO | C0002448 | Ameloblastoma | 1 | CTD_human |
| SMO | C0006118 | Brain Neoplasms | 1 | CTD_human |
| SMO | C0022360 | Jaw Abnormalities | 1 | CTD_human |
| SMO | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| SMO | C0024954 | Maxillary Neoplasms | 1 | CTD_human |
| SMO | C0025286 | Meningioma | 1 | CTD_human |
| SMO | C0037286 | Skin Neoplasms | 1 | CTD_human |
| SMO | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
| SMO | C0795915 | Winter Shortland Temple syndrome | 1 | ORPHANET;UNIPROT |
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