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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 RENBP |
 Gene summary |
| Gene information | Gene symbol | RENBP | Gene ID | 5973 |
| Gene name | renin binding protein | |
| Synonyms | RBP|RNBP | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | N-acylglucosamine 2-epimeraseAGEGlcNAc 2-epimeraseN-acetyl-D-glucosamine 2-epimerase | |
| Modification date | 20180523 | |
| UniProtAcc | P51606 | |
| Context | PubMed: RENBP [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 RENBP 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 RENBP |
| 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 RENBP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517418 | X | 153200941:153201029:153201456:153201558:153205554:153205618 | 153201456:153201558 | ENSG00000102032.8 | ENST00000451114.1 |
| exon_skip_517420 | X | 153200941:153201029:153205554:153205686:153206930:153207106 | 153205554:153205686 | ENSG00000102032.8 | ENST00000369997.3,ENST00000423624.1,ENST00000393700.3,ENST00000412763.1 |
| exon_skip_517421 | X | 153201456:153201558:153202544:153202641:153205554:153205686 | 153202544:153202641 | ENSG00000102032.8 | ENST00000457282.1 |
| exon_skip_517423 | X | 153205554:153205686:153206930:153207106:153208306:153208486 | 153206930:153207106 | ENSG00000102032.8 | ENST00000442361.1,ENST00000412763.1 |
| exon_skip_517426 | X | 153207025:153207106:153207402:153207484:153208306:153208486 | 153207402:153207484 | ENSG00000102032.8 | ENST00000369997.3,ENST00000423624.1,ENST00000393700.3 |
| exon_skip_517428 | X | 153209346:153209422:153209531:153209607:153209760:153209870 | 153209531:153209607 | ENSG00000102032.8 | ENST00000423624.1,ENST00000393700.3,ENST00000412763.1 |
| exon_skip_517429 | X | 153209346:153209422:153209573:153209607:153209760:153209870 | 153209573:153209607 | ENSG00000102032.8 | ENST00000369997.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RENBP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517418 | X | 153200941:153201029:153201456:153201558:153205554:153205618 | 153201456:153201558 | ENSG00000102032.8 | ENST00000451114.1 |
| exon_skip_517420 | X | 153200941:153201029:153205554:153205686:153206930:153207106 | 153205554:153205686 | ENSG00000102032.8 | ENST00000393700.3,ENST00000412763.1,ENST00000369997.3,ENST00000423624.1 |
| exon_skip_517421 | X | 153201456:153201558:153202544:153202641:153205554:153205686 | 153202544:153202641 | ENSG00000102032.8 | ENST00000457282.1 |
| exon_skip_517423 | X | 153205554:153205686:153206930:153207106:153208306:153208486 | 153206930:153207106 | ENSG00000102032.8 | ENST00000412763.1,ENST00000442361.1 |
| exon_skip_517426 | X | 153207025:153207106:153207402:153207484:153208306:153208486 | 153207402:153207484 | ENSG00000102032.8 | ENST00000393700.3,ENST00000369997.3,ENST00000423624.1 |
| exon_skip_517428 | X | 153209346:153209422:153209531:153209607:153209760:153209870 | 153209531:153209607 | ENSG00000102032.8 | ENST00000393700.3,ENST00000412763.1,ENST00000423624.1 |
| exon_skip_517429 | X | 153209346:153209422:153209573:153209607:153209760:153209870 | 153209573:153209607 | ENSG00000102032.8 | ENST00000369997.3 |
| 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 RENBP |
| 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 |
| ENST00000393700 | 153207402 | 153207484 | Frame-shift |
| ENST00000393700 | 153209531 | 153209607 | Frame-shift |
| ENST00000393700 | 153205554 | 153205686 | 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 |
| ENST00000393700 | 153207402 | 153207484 | Frame-shift |
| ENST00000393700 | 153209531 | 153209607 | Frame-shift |
| ENST00000393700 | 153205554 | 153205686 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RENBP |
| 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 |
| ENST00000393700 | 1405 | 427 | 153205554 | 153205686 | 1027 | 1158 | 315 | 359 |
| 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 |
| ENST00000393700 | 1405 | 427 | 153205554 | 153205686 | 1027 | 1158 | 315 | 359 |
| 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 |
| P51606 | 315 | 359 | 255 | 427 | Alternative sequence | ID=VSP_039023;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P51606 | 315 | 359 | 1 | 427 | Chain | ID=PRO_0000208949;Note=N-acylglucosamine 2-epimerase |
| 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 |
| P51606 | 315 | 359 | 255 | 427 | Alternative sequence | ID=VSP_039023;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P51606 | 315 | 359 | 1 | 427 | Chain | ID=PRO_0000208949;Note=N-acylglucosamine 2-epimerase |
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SNVs in the skipped exons for RENBP |
| - 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 |
| BRCA | TCGA-BH-A0HP-01 | exon_skip_517423 | 153206931 | 153207106 | 153206997 | 153206997 | Frame_Shift_Del | G | - | p.G294fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_517423 | 153206931 | 153207106 | 153207006 | 153207006 | Frame_Shift_Del | G | - | p.P290fs |
| UVM | TCGA-V4-A9EC-01 | exon_skip_517423 | 153206931 | 153207106 | 153207074 | 153207074 | Frame_Shift_Del | G | - | p.R268fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_517426 | 153207403 | 153207484 | 153207447 | 153207447 | Frame_Shift_Del | C | - | p.G243fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_517426 | 153207403 | 153207484 | 153207450 | 153207450 | Frame_Shift_Del | T | - | p.E241fs |
| - 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 | 153205555 | 153205686 | 153205591 | 153205594 | Frame_Shift_Del | GCGC | - | p.LR346fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 153205555 | 153205686 | 153205595 | 153205596 | Frame_Shift_Ins | - | T | p.L346fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 153205555 | 153205686 | 153205601 | 153205602 | In_Frame_Ins | - | AGG | p.344_344V>AL |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153205555 | 153205686 | 153205578 | 153205578 | Missense_Mutation | C | T | p.V352M |
| OVCAR4_OVARY | 153205555 | 153205686 | 153205627 | 153205627 | Missense_Mutation | C | A | p.M335I |
| JHUEM1_ENDOMETRIUM | 153206931 | 153207106 | 153206971 | 153206971 | Missense_Mutation | A | G | p.L302P |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153206931 | 153207106 | 153207083 | 153207083 | Missense_Mutation | A | C | p.F265V |
| NCIH358_LUNG | 153206931 | 153207106 | 153207083 | 153207083 | Missense_Mutation | A | C | p.F265V |
| MCC13_SKIN | 153206931 | 153207106 | 153206960 | 153206960 | Nonsense_Mutation | G | A | p.Q306* |
| IMR5_AUTONOMIC_GANGLIA | 153205555 | 153205686 | 153205686 | 153205686 | Splice_Site | G | T | p.L316M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RENBP |
| 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 RENBP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RENBP |
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RelatedDrugs for RENBP |
| 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 RENBP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RENBP | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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