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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 PROSER1 |
 Gene summary |
| Gene information | Gene symbol | PROSER1 | Gene ID | 80209 |
| Gene name | proline and serine rich 1 | |
| Synonyms | C13orf23 | |
| Cytomap | 13q13.3 | |
| Type of gene | protein-coding | |
| Description | proline and serine-rich protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86XN7 | |
| Context | PubMed: PROSER1 [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 PROSER1 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 PROSER1 |
| 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 PROSER1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103111 | 13 | 39586219:39586370:39586827:39588613:39591636:39591681 | 39586827:39588613 | ENSG00000120685.15 | ENST00000352251.3,ENST00000350125.3 |
| exon_skip_103115 | 13 | 39591636:39591681:39596462:39596549:39597188:39597267 | 39596462:39596549 | ENSG00000120685.15 | ENST00000352251.3,ENST00000350125.3 |
| exon_skip_103120 | 13 | 39596490:39596549:39597188:39597267:39598609:39598693 | 39597188:39597267 | ENSG00000120685.15 | ENST00000352251.3,ENST00000350125.3,ENST00000496138.2 |
| exon_skip_103121 | 13 | 39605699:39605768:39608267:39608333:39611334:39611431 | 39608267:39608333 | ENSG00000120685.15 | ENST00000602534.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PROSER1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103111 | 13 | 39586219:39586370:39586827:39588613:39591636:39591681 | 39586827:39588613 | ENSG00000120685.15 | ENST00000352251.3,ENST00000350125.3 |
| exon_skip_103115 | 13 | 39591636:39591681:39596462:39596549:39597188:39597267 | 39596462:39596549 | ENSG00000120685.15 | ENST00000352251.3,ENST00000350125.3 |
| exon_skip_103120 | 13 | 39596490:39596549:39597188:39597267:39598609:39598693 | 39597188:39597267 | ENSG00000120685.15 | ENST00000352251.3,ENST00000350125.3,ENST00000496138.2 |
| exon_skip_103121 | 13 | 39605699:39605768:39608267:39608333:39611334:39611431 | 39608267:39608333 | ENSG00000120685.15 | ENST00000602534.1 |
| 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 PROSER1 |
| 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 |
| ENST00000352251 | 39586827 | 39588613 | Frame-shift |
| ENST00000352251 | 39597188 | 39597267 | Frame-shift |
| ENST00000352251 | 39596462 | 39596549 | 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 |
| ENST00000352251 | 39586827 | 39588613 | Frame-shift |
| ENST00000352251 | 39597188 | 39597267 | Frame-shift |
| ENST00000352251 | 39596462 | 39596549 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PROSER1 |
| 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 |
| ENST00000352251 | 5185 | 944 | 39596462 | 39596549 | 1478 | 1564 | 214 | 243 |
| 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 |
| ENST00000352251 | 5185 | 944 | 39596462 | 39596549 | 1478 | 1564 | 214 | 243 |
| 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 |
| Q86XN7 | 214 | 243 | 1 | 944 | Chain | ID=PRO_0000274309;Note=Proline and serine-rich protein 1 |
| Q86XN7 | 214 | 243 | 185 | 386 | Compositional bias | Note=Pro-rich |
| 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 |
| Q86XN7 | 214 | 243 | 1 | 944 | Chain | ID=PRO_0000274309;Note=Proline and serine-rich protein 1 |
| Q86XN7 | 214 | 243 | 185 | 386 | Compositional bias | Note=Pro-rich |
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SNVs in the skipped exons for PROSER1 |
| - 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. |
PROSER1_LUSC_exon_skip_103115_psi_boxplot.png |
PROSER1_READ_exon_skip_103111_psi_boxplot.png |
PROSER1_SARC_exon_skip_103111_psi_boxplot.png |
| - 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-A39Y-01 | exon_skip_103111 | 39586828 | 39588613 | 39586858 | 39586858 | Frame_Shift_Del | T | - | p.N844fs |
| KIRC | TCGA-BP-5169-01 | exon_skip_103111 | 39586828 | 39588613 | 39587067 | 39587067 | Frame_Shift_Del | G | - | p.F774fs |
| KIRC | TCGA-BP-5169-01 | exon_skip_103111 | 39586828 | 39588613 | 39587067 | 39587067 | Frame_Shift_Del | G | - | p.S775fs |
| READ | TCGA-EI-6882-01 | exon_skip_103111 | 39586828 | 39588613 | 39587143 | 39587144 | Frame_Shift_Del | GA | - | p.727_727del |
| SARC | TCGA-HB-A2OT-01 | exon_skip_103111 | 39586828 | 39588613 | 39587561 | 39587562 | Frame_Shift_Del | CA | - | p.E610fs |
| SARC | TCGA-HB-A2OT-01 | exon_skip_103111 | 39586828 | 39588613 | 39587561 | 39587562 | Frame_Shift_Del | CA | - | p.TE609fs |
| KIRP | TCGA-B9-5156-01 | exon_skip_103111 | 39586828 | 39588613 | 39587574 | 39587574 | Frame_Shift_Del | A | - | p.M606X |
| KIRP | TCGA-B9-5156-01 | exon_skip_103111 | 39586828 | 39588613 | 39587574 | 39587574 | Frame_Shift_Del | A | - | p.V605fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_103111 | 39586828 | 39588613 | 39588302 | 39588302 | Frame_Shift_Del | A | - | p.S363fs |
| UCEC | TCGA-D1-A17B-01 | exon_skip_103111 | 39586828 | 39588613 | 39588302 | 39588302 | Frame_Shift_Del | A | - | p.S363fs |
| BLCA | TCGA-GC-A6I1-01 | exon_skip_103111 | 39586828 | 39588613 | 39588289 | 39588289 | Nonsense_Mutation | G | C | p.S367* |
| STAD | TCGA-CG-4438-01 | exon_skip_103111 | 39586828 | 39588613 | 39588424 | 39588424 | Nonsense_Mutation | G | C | p.S322X |
| BLCA | TCGA-ZF-A9RL-01 | exon_skip_103111 | 39586828 | 39588613 | 39588502 | 39588502 | Nonsense_Mutation | G | C | p.S296* |
| KIRP | TCGA-BQ-5882-01 | exon_skip_103115 | 39596463 | 39596549 | 39596542 | 39596542 | Nonsense_Mutation | A | T | p.Y217* |
| KIRP | TCGA-BQ-5882-01 | exon_skip_103115 | 39596463 | 39596549 | 39596542 | 39596542 | Nonsense_Mutation | A | T | p.Y217X |
| LUSC | TCGA-22-1016-01 | exon_skip_103115 | 39596463 | 39596549 | 39596551 | 39596551 | Splice_Site | T | A | p.S215_splice |
| ESCA | TCGA-R6-A8W5-01 | exon_skip_103121 | 39608268 | 39608333 | 39608335 | 39608336 | Splice_Site | - | A | e2-2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-22-1016-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_103115 | |
| Skipped exon start: 39596463 | |
| Skipped exon end: 39596549 | |
| Mutation start: 39596551 | |
| Mutation end: 39596551 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: p.S215_splice | |
exon_skip_103115_LUSC_TCGA-22-1016-01.png | |
exon_skip_311293_LUSC_TCGA-22-1016-01.png | |
 | Sample: TCGA-HB-A2OT-01 |
| Cancer type: SARC | |
| ESID: exon_skip_103111 | |
| Skipped exon start: 39586828 | |
| Skipped exon end: 39588613 | |
| Mutation start: 39587561 | |
| Mutation end: 39587562 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CA | |
| Mutation seq: - | |
| AAchange: p.TE609fs | |
| Sample: TCGA-HB-A2OT-01 |
| Cancer type: SARC | |
| ESID: exon_skip_103111 | |
| Skipped exon start: 39586828 | |
| Skipped exon end: 39588613 | |
| Mutation start: 39587561 | |
| Mutation end: 39587562 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CA | |
| Mutation seq: - | |
| AAchange: p.E610fs | |
exon_skip_103111_SARC_TCGA-HB-A2OT-01.png | |
| - 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 |
| EN_ENDOMETRIUM | 39586828 | 39588613 | 39588302 | 39588302 | Frame_Shift_Del | A | - | p.S363fs |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39586828 | 39588613 | 39588327 | 39588327 | Frame_Shift_Del | G | - | p.T356fs |
| H2369_PLEURA | 39586828 | 39588613 | 39586852 | 39586852 | Missense_Mutation | T | C | p.N846S |
| CAL851_BREAST | 39586828 | 39588613 | 39586889 | 39586889 | Missense_Mutation | G | A | p.L834F |
| NCIH1105_LUNG | 39586828 | 39588613 | 39586949 | 39586949 | Missense_Mutation | T | C | p.T814A |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39586828 | 39588613 | 39586984 | 39586984 | Missense_Mutation | G | C | p.A802G |
| SW1463_LARGE_INTESTINE | 39586828 | 39588613 | 39587207 | 39587207 | Missense_Mutation | T | G | p.T728P |
| NCIH513_PLEURA | 39586828 | 39588613 | 39587209 | 39587209 | Missense_Mutation | G | C | p.A727G |
| NCIH1648_LUNG | 39586828 | 39588613 | 39587228 | 39587228 | Missense_Mutation | G | C | p.L721V |
| SIHA_CERVIX | 39586828 | 39588613 | 39587362 | 39587362 | Missense_Mutation | A | C | p.L676R |
| K2_SKIN | 39586828 | 39588613 | 39587366 | 39587366 | Missense_Mutation | G | A | p.P675S |
| HUH28_BILIARY_TRACT | 39586828 | 39588613 | 39587398 | 39587398 | Missense_Mutation | G | A | p.S664F |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39586828 | 39588613 | 39587470 | 39587470 | Missense_Mutation | C | G | p.G640A |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39586828 | 39588613 | 39587476 | 39587476 | Missense_Mutation | G | A | p.T638I |
| CHSA8926_BONE | 39586828 | 39588613 | 39587501 | 39587501 | Missense_Mutation | G | A | p.H630Y |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39586828 | 39588613 | 39587513 | 39587513 | Missense_Mutation | C | A | p.G626W |
| MCC13_SKIN | 39586828 | 39588613 | 39587659 | 39587659 | Missense_Mutation | G | A | p.S577F |
| LIM1215_LARGE_INTESTINE | 39586828 | 39588613 | 39587722 | 39587722 | Missense_Mutation | G | T | p.P556H |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 39586828 | 39588613 | 39587857 | 39587857 | Missense_Mutation | G | A | p.S511F |
| GP5D_LARGE_INTESTINE | 39586828 | 39588613 | 39587885 | 39587885 | Missense_Mutation | A | G | p.S502P |
| NCIH1734_LUNG | 39586828 | 39588613 | 39587908 | 39587908 | Missense_Mutation | G | A | p.T494I |
| RH28_SOFT_TISSUE | 39586828 | 39588613 | 39588017 | 39588017 | Missense_Mutation | C | T | p.V458I |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39586828 | 39588613 | 39588172 | 39588172 | Missense_Mutation | A | G | p.L406P |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 39586828 | 39588613 | 39588239 | 39588239 | Missense_Mutation | G | C | p.P384A |
| KYSE140_OESOPHAGUS | 39586828 | 39588613 | 39588314 | 39588314 | Missense_Mutation | G | A | p.P359S |
| HEC1_ENDOMETRIUM | 39586828 | 39588613 | 39588415 | 39588415 | Missense_Mutation | T | C | p.H325R |
| MEL202_EYE | 39586828 | 39588613 | 39588419 | 39588419 | Missense_Mutation | C | T | p.V324I |
| MDAMB157_BREAST | 39586828 | 39588613 | 39588427 | 39588427 | Missense_Mutation | G | A | p.S321F |
| MDAMB157_BREAST | 39586828 | 39588613 | 39588427 | 39588428 | Missense_Mutation | GA | AC | p.S321V |
| MDAMB157_BREAST | 39586828 | 39588613 | 39588428 | 39588428 | Missense_Mutation | A | C | p.S321A |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39596463 | 39596549 | 39596516 | 39596516 | Missense_Mutation | G | A | p.A226V |
| EVSAT_BREAST | 39597189 | 39597267 | 39597221 | 39597221 | Missense_Mutation | G | C | p.P204R |
| LS180_LARGE_INTESTINE | 39597189 | 39597267 | 39597260 | 39597260 | Missense_Mutation | G | A | p.S191L |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39608268 | 39608333 | 39608307 | 39608307 | Missense_Mutation | T | A | p.K24N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PROSER1 |
| 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 PROSER1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PROSER1 |
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RelatedDrugs for PROSER1 |
| 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 PROSER1 |
| 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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