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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 SFMBT1 |
 Gene summary |
| Gene information | Gene symbol | SFMBT1 | Gene ID | 51460 |
| Gene name | Scm like with four mbt domains 1 | |
| Synonyms | RU1|SFMBT|hSFMBT | |
| Cytomap | 3p21.1 | |
| Type of gene | protein-coding | |
| Description | scm-like with four MBT domains protein 1Scm-related gene containing four mbt domainsScm-related gene product containing four mbt domainsrenal ubiquitous protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UHJ3 | |
| Context | PubMed: SFMBT1 [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 |
| SFMBT1 | GO:0045892 | negative regulation of transcription, DNA-templated | 23592795 |
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Exon skipping events across known transcript of Ensembl for SFMBT1 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 SFMBT1 |
| 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 SFMBT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385034 | 3 | 52938627:52939292:52940128:52940257:52941084:52941330 | 52940128:52940257 | ENSG00000163935.9 | ENST00000358080.2,ENST00000394752.3,ENST00000394750.1 |
| exon_skip_385036 | 3 | 52941570:52941749:52945018:52945194:52946553:52946663 | 52945018:52945194 | ENSG00000163935.9 | ENST00000296295.6,ENST00000358080.2,ENST00000394752.3,ENST00000394750.1 |
| exon_skip_385038 | 3 | 52950165:52950230:52952499:52952542:52954552:52954666 | 52952499:52952542 | ENSG00000163935.9 | ENST00000296295.6,ENST00000358080.2,ENST00000394752.3,ENST00000394750.1 |
| exon_skip_385041 | 3 | 52962206:52962357:52964344:52964446:52964956:52965051 | 52964344:52964446 | ENSG00000163935.9 | ENST00000296295.6,ENST00000358080.2,ENST00000394752.3,ENST00000394750.1 |
| exon_skip_385043 | 3 | 52966077:52966324:52968828:52968917:52977368:52977609 | 52968828:52968917 | ENSG00000163935.9 | ENST00000296295.6,ENST00000358080.2,ENST00000394752.3,ENST00000394750.1 |
| exon_skip_385045 | 3 | 52968828:52968917:52977368:52977609:52988332:52988427 | 52977368:52977609 | ENSG00000163935.9 | ENST00000296295.6,ENST00000358080.2,ENST00000394752.3,ENST00000394750.1 |
| exon_skip_385046 | 3 | 53003116:53003274:53052101:53052244:53077151:53077270 | 53052101:53052244 | ENSG00000163935.9 | ENST00000474837.1 |
| exon_skip_385047 | 3 | 53003116:53003274:53077151:53077270:53079831:53080070 | 53077151:53077270 | ENSG00000163935.9 | ENST00000358080.2,ENST00000482396.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SFMBT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385034 | 3 | 52938627:52939292:52940128:52940257:52941084:52941330 | 52940128:52940257 | ENSG00000163935.9 | ENST00000394752.3,ENST00000358080.2,ENST00000394750.1 |
| exon_skip_385036 | 3 | 52941570:52941749:52945018:52945194:52946553:52946663 | 52945018:52945194 | ENSG00000163935.9 | ENST00000394752.3,ENST00000358080.2,ENST00000296295.6,ENST00000394750.1 |
| exon_skip_385038 | 3 | 52950165:52950230:52952499:52952542:52954552:52954666 | 52952499:52952542 | ENSG00000163935.9 | ENST00000394752.3,ENST00000358080.2,ENST00000296295.6,ENST00000394750.1 |
| exon_skip_385041 | 3 | 52962206:52962357:52964344:52964446:52964956:52965051 | 52964344:52964446 | ENSG00000163935.9 | ENST00000394752.3,ENST00000358080.2,ENST00000296295.6,ENST00000394750.1 |
| exon_skip_385043 | 3 | 52966077:52966324:52968828:52968917:52977368:52977609 | 52968828:52968917 | ENSG00000163935.9 | ENST00000394752.3,ENST00000358080.2,ENST00000296295.6,ENST00000394750.1 |
| exon_skip_385045 | 3 | 52968828:52968917:52977368:52977609:52988332:52988427 | 52977368:52977609 | ENSG00000163935.9 | ENST00000394752.3,ENST00000358080.2,ENST00000296295.6,ENST00000394750.1 |
| exon_skip_385046 | 3 | 53003116:53003274:53052101:53052244:53077151:53077270 | 53052101:53052244 | ENSG00000163935.9 | ENST00000474837.1 |
| exon_skip_385047 | 3 | 53003116:53003274:53077151:53077270:53079831:53080070 | 53077151:53077270 | ENSG00000163935.9 | ENST00000358080.2,ENST00000482396.1 |
| 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 SFMBT1 |
| 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 |
| ENST00000394752 | 52945018 | 52945194 | Frame-shift |
| ENST00000394752 | 52952499 | 52952542 | Frame-shift |
| ENST00000394752 | 52968828 | 52968917 | Frame-shift |
| ENST00000394752 | 52977368 | 52977609 | Frame-shift |
| ENST00000394752 | 52940128 | 52940257 | In-frame |
| ENST00000394752 | 52964344 | 52964446 | 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 |
| ENST00000394752 | 52945018 | 52945194 | Frame-shift |
| ENST00000394752 | 52952499 | 52952542 | Frame-shift |
| ENST00000394752 | 52968828 | 52968917 | Frame-shift |
| ENST00000394752 | 52977368 | 52977609 | Frame-shift |
| ENST00000394752 | 52940128 | 52940257 | In-frame |
| ENST00000394752 | 52964344 | 52964446 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SFMBT1 |
| 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 |
| ENST00000394752 | 4565 | 866 | 52964344 | 52964446 | 1179 | 1280 | 265 | 299 |
| ENST00000394752 | 4565 | 866 | 52940128 | 52940257 | 2715 | 2843 | 777 | 820 |
| 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 |
| ENST00000394752 | 4565 | 866 | 52964344 | 52964446 | 1179 | 1280 | 265 | 299 |
| ENST00000394752 | 4565 | 866 | 52940128 | 52940257 | 2715 | 2843 | 777 | 820 |
| 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 |
| Q9UHJ3 | 265 | 299 | 1 | 866 | Chain | ID=PRO_0000071966;Note=Scm-like with four MBT domains protein 1 |
| Q9UHJ3 | 265 | 299 | 242 | 348 | Repeat | Note=MBT 3 |
| Q9UHJ3 | 777 | 820 | 778 | 820 | Alternative sequence | ID=VSP_013857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9UHJ3 | 777 | 820 | 1 | 866 | Chain | ID=PRO_0000071966;Note=Scm-like with four MBT domains protein 1 |
| Q9UHJ3 | 777 | 820 | 796 | 864 | Domain | Note=SAM |
| 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 |
| Q9UHJ3 | 265 | 299 | 1 | 866 | Chain | ID=PRO_0000071966;Note=Scm-like with four MBT domains protein 1 |
| Q9UHJ3 | 265 | 299 | 242 | 348 | Repeat | Note=MBT 3 |
| Q9UHJ3 | 777 | 820 | 778 | 820 | Alternative sequence | ID=VSP_013857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9UHJ3 | 777 | 820 | 1 | 866 | Chain | ID=PRO_0000071966;Note=Scm-like with four MBT domains protein 1 |
| Q9UHJ3 | 777 | 820 | 796 | 864 | Domain | Note=SAM |
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SNVs in the skipped exons for SFMBT1 |
| - 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 |
| KIRC | TCGA-BP-5004-01 | exon_skip_385034 | 52940129 | 52940257 | 52940142 | 52940142 | Frame_Shift_Del | A | - | p.I816fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_385034 | 52940129 | 52940257 | 52940208 | 52940208 | Frame_Shift_Del | A | - | p.L794fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_385045 | 52977369 | 52977609 | 52977528 | 52977528 | Frame_Shift_Del | C | - | p.V69fs |
| LUAD | TCGA-05-4417-01 | exon_skip_385036 | 52945019 | 52945194 | 52945171 | 52945172 | Frame_Shift_Ins | - | C | p.A585fs |
| LUAD | TCGA-05-4417-01 | exon_skip_385036 | 52945019 | 52945194 | 52945171 | 52945172 | Frame_Shift_Ins | - | C | p.Y585fs |
| HNSC | TCGA-CN-5360-01 | exon_skip_385045 | 52977369 | 52977609 | 52977588 | 52977588 | Nonsense_Mutation | C | A | p.G49* |
| STAD | TCGA-D7-8572-01 | exon_skip_385045 | 52977369 | 52977609 | 52977610 | 52977610 | Splice_Site | C | A | . |
| - 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 |
| LOVO_LARGE_INTESTINE | 52940129 | 52940257 | 52940181 | 52940181 | Missense_Mutation | C | T | p.R803Q |
| KM12_LARGE_INTESTINE | 52945019 | 52945194 | 52945091 | 52945091 | Missense_Mutation | T | C | p.N612D |
| SIMA_AUTONOMIC_GANGLIA | 52968829 | 52968917 | 52968842 | 52968842 | Missense_Mutation | G | A | p.P147L |
| SNU449_LIVER | 52968829 | 52968917 | 52968878 | 52968878 | Missense_Mutation | C | T | p.R135Q |
| SKN_ENDOMETRIUM | 52977369 | 52977609 | 52977563 | 52977563 | Missense_Mutation | T | A | p.E57V |
| MERO48A_LUNG | 52977369 | 52977609 | 52977581 | 52977581 | Missense_Mutation | G | A | p.A51V |
| NCIH446_LUNG | 52964345 | 52964446 | 52964345 | 52964345 | Splice_Site | C | G | p.K299N |
| RERFLCAD2_LUNG | 52964345 | 52964446 | 52964446 | 52964446 | Splice_Site | C | A | p.D266Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SFMBT1 |
| 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 SFMBT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SFMBT1 |
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RelatedDrugs for SFMBT1 |
| 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 SFMBT1 |
| 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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