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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 RBMS3 |
 Gene summary |
| Gene information | Gene symbol | RBMS3 | Gene ID | 27303 |
| Gene name | RNA binding motif single stranded interacting protein 3 | |
| Synonyms | - | |
| Cytomap | 3p24.1 | |
| Type of gene | protein-coding | |
| Description | RNA-binding motif, single-stranded-interacting protein 3RNA binding motif, single stranded interacting proteinRNA-binding protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q6XE24 | |
| Context | PubMed: RBMS3 [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 RBMS3 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 RBMS3 |
| 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 RBMS3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372318 | 3 | 29323106:29323247:29476233:29476406:29529931:29529990 | 29476233:29476406 | ENSG00000144642.16 | ENST00000445033.1,ENST00000396583.3,ENST00000383767.2,ENST00000456853.1,ENST00000273139.9,ENST00000452462.1 |
| exon_skip_372319 | 3 | 29323106:29323247:29476236:29476406:29529931:29529990 | 29476236:29476406 | ENSG00000144642.16 | ENST00000383766.2 |
| exon_skip_372321 | 3 | 29910348:29910455:29922269:29922308:29925652:29925699 | 29922269:29922308 | ENSG00000144642.16 | ENST00000396583.3,ENST00000456853.1 |
| exon_skip_372322 | 3 | 29925652:29925699:29938869:29938966:29977576:29977687 | 29938869:29938966 | ENSG00000144642.16 | ENST00000383766.2 |
| exon_skip_372323 | 3 | 29938869:29938966:29941195:29941246:29977576:29977687 | 29941195:29941246 | ENSG00000144642.16 | ENST00000396583.3,ENST00000383767.2,ENST00000456853.1,ENST00000273139.9,ENST00000434693.2,ENST00000452462.1 |
| exon_skip_372324 | 3 | 29941195:29941246:29977576:29977687:30029633:30029714 | 29977576:29977687 | ENSG00000144642.16 | ENST00000396583.3,ENST00000456853.1,ENST00000273139.9,ENST00000452462.1 |
| exon_skip_372325 | 3 | 29977576:29977687:29985697:29985745:30029633:30029714 | 29985697:29985745 | ENSG00000144642.16 | ENST00000383766.2,ENST00000383767.2,ENST00000473799.1,ENST00000434693.2 |
| exon_skip_372326 | 3 | 29977576:29977687:30029633:30029714:30032572:30032688 | 30029633:30029714 | ENSG00000144642.16 | ENST00000396583.3,ENST00000456853.1,ENST00000273139.9,ENST00000452462.1 |
| exon_skip_372329 | 3 | 30029633:30029714:30032572:30032700:30045346:30045504 | 30032572:30032700 | ENSG00000144642.16 | ENST00000383766.2,ENST00000396583.3,ENST00000383767.2,ENST00000434693.2,ENST00000452462.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBMS3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372318 | 3 | 29323106:29323247:29476233:29476406:29529931:29529990 | 29476233:29476406 | ENSG00000144642.16 | ENST00000396583.3,ENST00000383767.2,ENST00000445033.1,ENST00000273139.9,ENST00000452462.1,ENST00000456853.1 |
| exon_skip_372319 | 3 | 29323106:29323247:29476236:29476406:29529931:29529990 | 29476236:29476406 | ENSG00000144642.16 | ENST00000383766.2 |
| exon_skip_372321 | 3 | 29910348:29910455:29922269:29922308:29925652:29925699 | 29922269:29922308 | ENSG00000144642.16 | ENST00000396583.3,ENST00000456853.1 |
| exon_skip_372322 | 3 | 29925652:29925699:29938869:29938966:29977576:29977687 | 29938869:29938966 | ENSG00000144642.16 | ENST00000383766.2 |
| exon_skip_372323 | 3 | 29938869:29938966:29941195:29941246:29977576:29977687 | 29941195:29941246 | ENSG00000144642.16 | ENST00000434693.2,ENST00000396583.3,ENST00000383767.2,ENST00000273139.9,ENST00000452462.1,ENST00000456853.1 |
| exon_skip_372324 | 3 | 29941195:29941246:29977576:29977687:30029633:30029714 | 29977576:29977687 | ENSG00000144642.16 | ENST00000396583.3,ENST00000273139.9,ENST00000452462.1,ENST00000456853.1 |
| exon_skip_372325 | 3 | 29977576:29977687:29985697:29985745:30029633:30029714 | 29985697:29985745 | ENSG00000144642.16 | ENST00000434693.2,ENST00000383767.2,ENST00000383766.2,ENST00000473799.1 |
| exon_skip_372326 | 3 | 29977576:29977687:30029633:30029714:30032572:30032688 | 30029633:30029714 | ENSG00000144642.16 | ENST00000396583.3,ENST00000273139.9,ENST00000452462.1,ENST00000456853.1 |
| exon_skip_372329 | 3 | 30029633:30029714:30032572:30032700:30045346:30045504 | 30032572:30032700 | ENSG00000144642.16 | ENST00000434693.2,ENST00000396583.3,ENST00000383767.2,ENST00000383766.2,ENST00000452462.1 |
| 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 RBMS3 |
| 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 |
| ENST00000383767 | 29476233 | 29476406 | Frame-shift |
| ENST00000383767 | 30032572 | 30032700 | Frame-shift |
| ENST00000383767 | 29941195 | 29941246 | In-frame |
| ENST00000383767 | 29985697 | 29985745 | 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 |
| ENST00000383767 | 29476233 | 29476406 | Frame-shift |
| ENST00000383767 | 30032572 | 30032700 | Frame-shift |
| ENST00000383767 | 29941195 | 29941246 | In-frame |
| ENST00000383767 | 29985697 | 29985745 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RBMS3 |
| 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 |
| ENST00000383767 | 1881 | 437 | 29941195 | 29941246 | 1225 | 1275 | 296 | 313 |
| ENST00000383767 | 1881 | 437 | 29985697 | 29985745 | 1387 | 1434 | 350 | 366 |
| 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 |
| ENST00000383767 | 1881 | 437 | 29941195 | 29941246 | 1225 | 1275 | 296 | 313 |
| ENST00000383767 | 1881 | 437 | 29985697 | 29985745 | 1387 | 1434 | 350 | 366 |
| 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 |
| Q6XE24 | 296 | 313 | 297 | 313 | Alternative sequence | ID=VSP_022929;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q6XE24 | 296 | 313 | 1 | 437 | Chain | ID=PRO_0000274906;Note=RNA-binding motif%2C single-stranded-interacting protein 3 |
| Q6XE24 | 350 | 366 | 351 | 366 | Alternative sequence | ID=VSP_022930;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10675610,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:10675610,PMID:14702039,PMID:1548 |
| Q6XE24 | 350 | 366 | 1 | 437 | Chain | ID=PRO_0000274906;Note=RNA-binding motif%2C single-stranded-interacting protein 3 |
| 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 |
| Q6XE24 | 296 | 313 | 297 | 313 | Alternative sequence | ID=VSP_022929;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q6XE24 | 296 | 313 | 1 | 437 | Chain | ID=PRO_0000274906;Note=RNA-binding motif%2C single-stranded-interacting protein 3 |
| Q6XE24 | 350 | 366 | 351 | 366 | Alternative sequence | ID=VSP_022930;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10675610,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:10675610,PMID:14702039,PMID:1548 |
| Q6XE24 | 350 | 366 | 1 | 437 | Chain | ID=PRO_0000274906;Note=RNA-binding motif%2C single-stranded-interacting protein 3 |
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SNVs in the skipped exons for RBMS3 |
| - 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_372319 exon_skip_372318 | 29476234 | 29476406 | 29476257 | 29476257 | Frame_Shift_Del | C | - | p.H32fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_372319 exon_skip_372318 | 29476237 | 29476406 | 29476257 | 29476257 | Frame_Shift_Del | C | - | p.H32fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_372319 exon_skip_372318 | 29476234 | 29476406 | 29476336 | 29476336 | Frame_Shift_Del | A | - | p.K59fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_372319 exon_skip_372318 | 29476237 | 29476406 | 29476336 | 29476336 | Frame_Shift_Del | A | - | p.K59fs |
| COAD | TCGA-CA-6717-01 | exon_skip_372319 exon_skip_372318 | 29476234 | 29476406 | 29476354 | 29476354 | Nonsense_Mutation | C | T | p.R66X |
| COAD | TCGA-CA-6717-01 | exon_skip_372319 exon_skip_372318 | 29476237 | 29476406 | 29476354 | 29476354 | Nonsense_Mutation | C | T | p.R66X |
| THYM | TCGA-ZB-A96D-01 | exon_skip_372323 | 29941196 | 29941246 | 29941238 | 29941238 | Nonsense_Mutation | C | T | p.Q310* |
| THYM | TCGA-ZB-A96D-01 | exon_skip_372323 | 29941196 | 29941246 | 29941238 | 29941238 | Nonsense_Mutation | C | T | p.Q324X |
| COAD | TCGA-CM-4743-01 | exon_skip_372319 exon_skip_372318 | 29476234 | 29476406 | 29476407 | 29476407 | Splice_Site | G | A | . |
| COAD | TCGA-CM-4743-01 | exon_skip_372319 exon_skip_372318 | 29476237 | 29476406 | 29476407 | 29476407 | Splice_Site | G | A | . |
| DLBC | TCGA-FF-8062-01 | exon_skip_372322 | 29938870 | 29938966 | 29938967 | 29938967 | Splice_Site | G | T | . |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29476237 | 29476406 | 29476296 | 29476310 | In_Frame_Del | CAACAACAGCAGCAA | - | p.NNSSN47del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29476234 | 29476406 | 29476296 | 29476310 | In_Frame_Del | CAACAACAGCAGCAA | - | p.NNSSN47del |
| LOVO_LARGE_INTESTINE | 29476237 | 29476406 | 29476348 | 29476348 | Missense_Mutation | T | C | p.Y64H |
| LOVO_LARGE_INTESTINE | 29476234 | 29476406 | 29476348 | 29476348 | Missense_Mutation | T | C | p.Y64H |
| SNU1040_LARGE_INTESTINE | 29476237 | 29476406 | 29476384 | 29476384 | Missense_Mutation | G | A | p.D76N |
| SNU1040_LARGE_INTESTINE | 29476234 | 29476406 | 29476384 | 29476384 | Missense_Mutation | G | A | p.D76N |
| SNU1040_LARGE_INTESTINE | 29938870 | 29938966 | 29938881 | 29938881 | Missense_Mutation | C | T | p.S268L |
| SNU1040_LARGE_INTESTINE | 29938870 | 29938966 | 29938884 | 29938884 | Missense_Mutation | C | T | p.P269L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29938870 | 29938966 | 29938892 | 29938892 | Missense_Mutation | A | C | p.I272L |
| COLO741_SKIN | 29938870 | 29938966 | 29938909 | 29938909 | Missense_Mutation | G | A | p.M277I |
| SNU1040_LARGE_INTESTINE | 29941196 | 29941246 | 29941206 | 29941206 | Missense_Mutation | C | T | p.T300I |
| LS411N_LARGE_INTESTINE | 29941196 | 29941246 | 29941226 | 29941226 | Missense_Mutation | C | T | p.P307S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29977577 | 29977687 | 29977638 | 29977638 | Missense_Mutation | G | A | p.G334D |
| HEC108_ENDOMETRIUM | 29977577 | 29977687 | 29977662 | 29977662 | Missense_Mutation | A | G | p.H342R |
| HT115_LARGE_INTESTINE | 29977577 | 29977687 | 29977668 | 29977668 | Missense_Mutation | C | T | p.S344L |
| KATOIII_STOMACH | 29985698 | 29985745 | 29985701 | 29985701 | Missense_Mutation | C | A | p.Q352K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29985698 | 29985745 | 29985722 | 29985722 | Missense_Mutation | A | G | p.I359V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30032573 | 30032700 | 30032579 | 30032579 | Missense_Mutation | G | A | p.V396I |
| HUCCT1_BILIARY_TRACT | 30032573 | 30032700 | 30032616 | 30032616 | Missense_Mutation | C | T | p.S408F |
| HPAC_PANCREAS | 30032573 | 30032700 | 30032636 | 30032636 | Nonsense_Mutation | C | T | p.Q415* |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30032573 | 30032700 | 30032700 | 30032700 | Splice_Site | A | G | p.K436R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBMS3 |
| 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 RBMS3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBMS3 |
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RelatedDrugs for RBMS3 |
| 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 RBMS3 |
| 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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