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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 SETBP1 |
 Gene summary |
| Gene information | Gene symbol | SETBP1 | Gene ID | 26040 |
| Gene name | SET binding protein 1 | |
| Synonyms | MRD29|SEB | |
| Cytomap | 18q12.3 | |
| Type of gene | protein-coding | |
| Description | SET-binding protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y6X0 | |
| Context | PubMed: SETBP1 [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 SETBP1 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 SETBP1 |
| 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 SETBP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296642 | 18 | 42281139:42281797:42449194:42449248:42529845:42533305 | 42449194:42449248 | ENSG00000152217.12 | ENST00000282030.5 |
| exon_skip_296644 | 18 | 42529845:42533305:42618449:42618620:42643043:42648475 | 42618449:42618620 | ENSG00000152217.12 | ENST00000282030.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SETBP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296642 | 18 | 42281139:42281797:42449194:42449248:42529845:42533305 | 42449194:42449248 | ENSG00000152217.12 | ENST00000282030.5 |
| exon_skip_296643 | 18 | 42449194:42449248:42529845:42533305:42618449:42618620 | 42529845:42533305 | ENSG00000152217.12 | ENST00000282030.5 |
| exon_skip_296644 | 18 | 42529845:42533305:42618449:42618620:42643043:42648475 | 42618449:42618620 | ENSG00000152217.12 | ENST00000282030.5 |
| 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 SETBP1 |
| 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 |
| ENST00000282030 | 42449194 | 42449248 | In-frame |
| ENST00000282030 | 42618449 | 42618620 | 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 |
| ENST00000282030 | 42529845 | 42533305 | Frame-shift |
| ENST00000282030 | 42449194 | 42449248 | In-frame |
| ENST00000282030 | 42618449 | 42618620 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SETBP1 |
| 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 |
| ENST00000282030 | 9916 | 1596 | 42449194 | 42449248 | 783 | 836 | 162 | 180 |
| ENST00000282030 | 9916 | 1596 | 42618449 | 42618620 | 4297 | 4467 | 1333 | 1390 |
| 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 |
| ENST00000282030 | 9916 | 1596 | 42449194 | 42449248 | 783 | 836 | 162 | 180 |
| ENST00000282030 | 9916 | 1596 | 42618449 | 42618620 | 4297 | 4467 | 1333 | 1390 |
| 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 |
| Q9Y6X0 | 162 | 180 | 1 | 1596 | Chain | ID=PRO_0000097698;Note=SET-binding protein |
| Q9Y6X0 | 1333 | 1390 | 243 | 1596 | Alternative sequence | ID=VSP_039061;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y6X0 | 1333 | 1390 | 1 | 1596 | Chain | ID=PRO_0000097698;Note=SET-binding protein |
| Q9Y6X0 | 1333 | 1390 | 1377 | 1377 | Natural variant | ID=VAR_069864;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23222956;Dbxref=dbSNP:rs77518617,PMID:23222956 |
| 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 |
| Q9Y6X0 | 162 | 180 | 1 | 1596 | Chain | ID=PRO_0000097698;Note=SET-binding protein |
| Q9Y6X0 | 1333 | 1390 | 243 | 1596 | Alternative sequence | ID=VSP_039061;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y6X0 | 1333 | 1390 | 1 | 1596 | Chain | ID=PRO_0000097698;Note=SET-binding protein |
| Q9Y6X0 | 1333 | 1390 | 1377 | 1377 | Natural variant | ID=VAR_069864;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23222956;Dbxref=dbSNP:rs77518617,PMID:23222956 |
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SNVs in the skipped exons for SETBP1 |
| - 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 |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_296642 | 42449195 | 42449248 | 42449206 | 42449207 | Frame_Shift_Ins | - | AGTG | p.*167fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_296642 | 42449195 | 42449248 | 42449206 | 42449207 | Frame_Shift_Ins | - | AGTG | p.A166fs |
| SKCM | TCGA-BF-A1PV-01 | exon_skip_296644 | 42618450 | 42618620 | 42618621 | 42618621 | Splice_Site | G | 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 |
| SNU1040_LARGE_INTESTINE | 42618450 | 42618620 | 42618461 | 42618461 | Missense_Mutation | C | T | p.P1338S |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42618450 | 42618620 | 42618528 | 42618528 | Missense_Mutation | C | T | p.T1360I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SETBP1 |
| 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 SETBP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SETBP1 |
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RelatedDrugs for SETBP1 |
| 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 SETBP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SETBP1 | C0265227 | Schinzel-Giedion syndrome | 6 | CTD_human;ORPHANET;UNIPROT |
| SETBP1 | C3463824 | MYELODYSPLASTIC SYNDROME | 4 | UNIPROT |
| SETBP1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | UNIPROT |
| SETBP1 | C0023473 | Myeloid Leukemia, Chronic | 2 | UNIPROT |
| SETBP1 | C0349639 | Juvenile Myelomonocytic Leukemia | 2 | CTD_human;UNIPROT |
| SETBP1 | C3714756 | Intellectual Disability | 2 | CTD_human;HPO |
| SETBP1 | C0023014 | Language Development Disorders | 1 | CTD_human |
| SETBP1 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
| SETBP1 | C0043094 | Weight Gain | 1 | CTD_human |
| SETBP1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| SETBP1 | C1292772 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 1 | CTD_human |
| SETBP1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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