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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 RHBDD1 |
 Gene summary |
| Gene information | Gene symbol | RHBDD1 | Gene ID | 84236 |
| Gene name | rhomboid domain containing 1 | |
| Synonyms | RHBDL4|RRP4 | |
| Cytomap | 2q36.3 | |
| Type of gene | protein-coding | |
| Description | rhomboid-related protein 4rhomboid domain-containing protein 1rhomboid-like protein 4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TEB9 | |
| Context | PubMed: RHBDD1 [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 RHBDD1 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 RHBDD1 |
| 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 RHBDD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_334273 | 2 | 227700771:227700803:227702788:227702870:227704124:227704323 | 227702788:227702870 | ENSG00000144468.12 | ENST00000392062.2,ENST00000437454.1 |
| exon_skip_334274 | 2 | 227700771:227700803:227702788:227702870:227729319:227729427 | 227702788:227702870 | ENSG00000144468.12 | ENST00000448992.1 |
| exon_skip_334275 | 2 | 227700771:227700803:227704124:227704343:227729319:227729427 | 227704124:227704343 | ENSG00000144468.12 | ENST00000443477.1 |
| exon_skip_334282 | 2 | 227702263:227702486:227702788:227702870:227704124:227704323 | 227702788:227702870 | ENSG00000144468.12 | ENST00000436481.1 |
| exon_skip_334289 | 2 | 227702788:227702870:227704124:227704343:227729319:227729427 | 227704124:227704343 | ENSG00000144468.12 | ENST00000436481.1,ENST00000392062.2,ENST00000437454.1 |
| exon_skip_334290 | 2 | 227729345:227729842:227731901:227732034:227771508:227771597 | 227731901:227732034 | ENSG00000144468.12 | ENST00000392062.2,ENST00000341329.3 |
| exon_skip_334295 | 2 | 227771566:227771597:227773537:227773594:227778923:227779067 | 227773537:227773594 | ENSG00000144468.12 | ENST00000409053.1,ENST00000392062.2,ENST00000341329.3,ENST00000473218.1 |
| exon_skip_334297 | 2 | 227773537:227773594:227778923:227779067:227860146:227860391 | 227778923:227779067 | ENSG00000144468.12 | ENST00000392062.2,ENST00000341329.3,ENST00000491490.1,ENST00000493526.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RHBDD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_334273 | 2 | 227700771:227700803:227702788:227702870:227704124:227704323 | 227702788:227702870 | ENSG00000144468.12 | ENST00000392062.2,ENST00000437454.1 |
| exon_skip_334274 | 2 | 227700771:227700803:227702788:227702870:227729319:227729427 | 227702788:227702870 | ENSG00000144468.12 | ENST00000448992.1 |
| exon_skip_334275 | 2 | 227700771:227700803:227704124:227704343:227729319:227729427 | 227704124:227704343 | ENSG00000144468.12 | ENST00000443477.1 |
| exon_skip_334282 | 2 | 227702263:227702486:227702788:227702870:227704124:227704323 | 227702788:227702870 | ENSG00000144468.12 | ENST00000436481.1 |
| exon_skip_334289 | 2 | 227702788:227702870:227704124:227704343:227729319:227729427 | 227704124:227704343 | ENSG00000144468.12 | ENST00000392062.2,ENST00000437454.1,ENST00000436481.1 |
| exon_skip_334290 | 2 | 227729345:227729842:227731901:227732034:227771508:227771597 | 227731901:227732034 | ENSG00000144468.12 | ENST00000341329.3,ENST00000392062.2 |
| exon_skip_334295 | 2 | 227771566:227771597:227773537:227773594:227778923:227779067 | 227773537:227773594 | ENSG00000144468.12 | ENST00000341329.3,ENST00000392062.2,ENST00000409053.1,ENST00000473218.1 |
| exon_skip_334297 | 2 | 227773537:227773594:227778923:227779067:227860146:227860391 | 227778923:227779067 | ENSG00000144468.12 | ENST00000341329.3,ENST00000392062.2,ENST00000491490.1,ENST00000493526.1 |
| 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 RHBDD1 |
| 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 |
| ENST00000392062 | 227702788 | 227702870 | 5UTR-5UTR |
| ENST00000392062 | 227704124 | 227704343 | 5UTR-5UTR |
| ENST00000341329 | 227731901 | 227732034 | Frame-shift |
| ENST00000392062 | 227731901 | 227732034 | Frame-shift |
| ENST00000341329 | 227773537 | 227773594 | In-frame |
| ENST00000392062 | 227773537 | 227773594 | In-frame |
| ENST00000341329 | 227778923 | 227779067 | In-frame |
| ENST00000392062 | 227778923 | 227779067 | 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 |
| ENST00000392062 | 227702788 | 227702870 | 5UTR-5UTR |
| ENST00000392062 | 227704124 | 227704343 | 5UTR-5UTR |
| ENST00000341329 | 227731901 | 227732034 | Frame-shift |
| ENST00000392062 | 227731901 | 227732034 | Frame-shift |
| ENST00000341329 | 227773537 | 227773594 | In-frame |
| ENST00000392062 | 227773537 | 227773594 | In-frame |
| ENST00000341329 | 227778923 | 227779067 | In-frame |
| ENST00000392062 | 227778923 | 227779067 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RHBDD1 |
| 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 |
| ENST00000341329 | 4900 | 315 | 227773537 | 227773594 | 898 | 954 | 218 | 237 |
| ENST00000392062 | 5168 | 315 | 227773537 | 227773594 | 1180 | 1236 | 218 | 237 |
| ENST00000341329 | 4900 | 315 | 227778923 | 227779067 | 955 | 1098 | 237 | 285 |
| ENST00000392062 | 5168 | 315 | 227778923 | 227779067 | 1237 | 1380 | 237 | 285 |
| 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 |
| ENST00000341329 | 4900 | 315 | 227773537 | 227773594 | 898 | 954 | 218 | 237 |
| ENST00000392062 | 5168 | 315 | 227773537 | 227773594 | 1180 | 1236 | 218 | 237 |
| ENST00000341329 | 4900 | 315 | 227778923 | 227779067 | 955 | 1098 | 237 | 285 |
| ENST00000392062 | 5168 | 315 | 227778923 | 227779067 | 1237 | 1380 | 237 | 285 |
| 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 |
| Q8TEB9 | 218 | 237 | 210 | 218 | Alternative sequence | ID=VSP_021204;Note=In isoform 2. LKKIMEACA->MPVFLFKPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TEB9 | 218 | 237 | 210 | 218 | Alternative sequence | ID=VSP_021204;Note=In isoform 2. LKKIMEACA->MPVFLFKPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TEB9 | 218 | 237 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 218 | 237 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 218 | 237 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEB9 | 218 | 237 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEB9 | 237 | 285 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 237 | 285 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 237 | 285 | 269 | 284 | Region | Note=Ubiquitin-binding domain (UBD);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TEB9 | 237 | 285 | 269 | 284 | Region | Note=Ubiquitin-binding domain (UBD);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TEB9 | 237 | 285 | 263 | 263 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEB9 | 237 | 285 | 263 | 263 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEB9 | 237 | 285 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEB9 | 237 | 285 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8TEB9 | 218 | 237 | 210 | 218 | Alternative sequence | ID=VSP_021204;Note=In isoform 2. LKKIMEACA->MPVFLFKPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TEB9 | 218 | 237 | 210 | 218 | Alternative sequence | ID=VSP_021204;Note=In isoform 2. LKKIMEACA->MPVFLFKPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TEB9 | 218 | 237 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 218 | 237 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 218 | 237 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEB9 | 218 | 237 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEB9 | 237 | 285 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 237 | 285 | 1 | 315 | Chain | ID=PRO_0000254189;Note=Rhomboid-related protein 4 |
| Q8TEB9 | 237 | 285 | 269 | 284 | Region | Note=Ubiquitin-binding domain (UBD);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TEB9 | 237 | 285 | 269 | 284 | Region | Note=Ubiquitin-binding domain (UBD);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TEB9 | 237 | 285 | 263 | 263 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEB9 | 237 | 285 | 263 | 263 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEB9 | 237 | 285 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEB9 | 237 | 285 | 202 | 315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for RHBDD1 |
| - 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-A1EG-01 | exon_skip_334290 | 227731902 | 227732034 | 227731962 | 227731962 | Frame_Shift_Del | T | - | p.I165fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_334290 | 227731902 | 227732034 | 227731962 | 227731962 | Frame_Shift_Del | T | - | p.I165fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_334295 | 227773538 | 227773594 | 227773542 | 227773542 | Frame_Shift_Del | T | - | p.G220fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_334295 | 227773538 | 227773594 | 227773563 | 227773563 | Frame_Shift_Del | C | - | p.Y227fs |
| STAD | TCGA-BR-A4PE-01 | exon_skip_334295 | 227773538 | 227773594 | 227773563 | 227773563 | Frame_Shift_Del | C | - | p.Y227fs |
| LUAD | TCGA-17-Z030-01 | exon_skip_334297 | 227778924 | 227779067 | 227778956 | 227778956 | Frame_Shift_Del | G | - | p.G249fs |
| BLCA | TCGA-FT-A3EE-01 | exon_skip_334297 | 227778924 | 227779067 | 227779059 | 227779059 | Frame_Shift_Del | G | - | p.W283fs |
| BLCA | TCGA-XF-AAMZ-01 | exon_skip_334290 | 227731902 | 227732034 | 227732028 | 227732028 | Nonsense_Mutation | C | A | p.S187* |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_334297 | 227778924 | 227779067 | 227779064 | 227779064 | Nonsense_Mutation | C | T | p.R285* |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_334297 | 227778924 | 227779067 | 227779064 | 227779064 | Nonsense_Mutation | C | T | p.R285X |
| - 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 |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 227731902 | 227732034 | 227731944 | 227731944 | Missense_Mutation | C | T | p.P159L |
| HT115_LARGE_INTESTINE | 227731902 | 227732034 | 227732003 | 227732003 | Missense_Mutation | G | A | p.E179K |
| IPC298_SKIN | 227773538 | 227773594 | 227773547 | 227773547 | Missense_Mutation | C | T | p.S222F |
| NCIH2196_LUNG | 227778924 | 227779067 | 227779001 | 227779001 | Missense_Mutation | T | A | p.Y264N |
| HS944T_SKIN | 227778924 | 227779067 | 227779019 | 227779019 | Missense_Mutation | G | A | p.E270K |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 227778924 | 227779067 | 227779019 | 227779019 | Missense_Mutation | G | A | p.E270K |
| SNU175_LARGE_INTESTINE | 227778924 | 227779067 | 227779041 | 227779041 | Missense_Mutation | C | T | p.A277V |
| NUGC3_STOMACH | 227778924 | 227779067 | 227779046 | 227779046 | Missense_Mutation | C | A | p.Q279K |
| HCT15_LARGE_INTESTINE | 227778924 | 227779067 | 227779053 | 227779053 | Missense_Mutation | G | A | p.S281N |
| NCIH2009_LUNG | 227778924 | 227779067 | 227779067 | 227779067 | Splice_Site | G | T | p.G286* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RHBDD1 |
| 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 RHBDD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RHBDD1 |
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RelatedDrugs for RHBDD1 |
| 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 RHBDD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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