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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 RASIP1 |
 Gene summary |
| Gene information | Gene symbol | RASIP1 | Gene ID | 54922 |
| Gene name | Ras interacting protein 1 | |
| Synonyms | RAIN | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | ras-interacting protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5U651 | |
| Context | PubMed: RASIP1 [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 RASIP1 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 RASIP1 |
| 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 RASIP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320400 | 19 | 49223843:49224254:49225110:49225258:49227593:49227766 | 49225110:49225258 | ENSG00000105538.4 | ENST00000222145.4,ENST00000601530.1 |
| exon_skip_320421 | 19 | 49227593:49227766:49227973:49228217:49230041:49230145 | 49227973:49228217 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320434 | 19 | 49228086:49228217:49230041:49230145:49230263:49230415 | 49230041:49230145 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320442 | 19 | 49230041:49230145:49230263:49230415:49230649:49230687 | 49230263:49230415 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320445 | 19 | 49230263:49230415:49230649:49230687:49232193:49232847 | 49230649:49230687 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320446 | 19 | 49230649:49230687:49232193:49232847:49238452:49238808 | 49232193:49232847 | ENSG00000105538.4 | ENST00000222145.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASIP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320400 | 19 | 49223843:49224254:49225110:49225258:49227593:49227766 | 49225110:49225258 | ENSG00000105538.4 | ENST00000601530.1,ENST00000222145.4 |
| exon_skip_320421 | 19 | 49227593:49227766:49227973:49228217:49230041:49230145 | 49227973:49228217 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320434 | 19 | 49228086:49228217:49230041:49230145:49230263:49230415 | 49230041:49230145 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320442 | 19 | 49230041:49230145:49230263:49230415:49230649:49230687 | 49230263:49230415 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320445 | 19 | 49230263:49230415:49230649:49230687:49232193:49232847 | 49230649:49230687 | ENSG00000105538.4 | ENST00000222145.4 |
| exon_skip_320446 | 19 | 49230649:49230687:49232193:49232847:49238452:49238808 | 49232193:49232847 | ENSG00000105538.4 | ENST00000222145.4 |
| 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 RASIP1 |
| 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 |
| ENST00000222145 | 49225110 | 49225258 | Frame-shift |
| ENST00000222145 | 49227973 | 49228217 | Frame-shift |
| ENST00000222145 | 49230041 | 49230145 | Frame-shift |
| ENST00000222145 | 49230263 | 49230415 | Frame-shift |
| ENST00000222145 | 49230649 | 49230687 | Frame-shift |
| ENST00000222145 | 49232193 | 49232847 | 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 |
| ENST00000222145 | 49225110 | 49225258 | Frame-shift |
| ENST00000222145 | 49227973 | 49228217 | Frame-shift |
| ENST00000222145 | 49230041 | 49230145 | Frame-shift |
| ENST00000222145 | 49230263 | 49230415 | Frame-shift |
| ENST00000222145 | 49230649 | 49230687 | Frame-shift |
| ENST00000222145 | 49232193 | 49232847 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RASIP1 |
| 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 |
| ENST00000222145 | 3325 | 963 | 49232193 | 49232847 | 1385 | 2038 | 393 | 611 |
| 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 |
| ENST00000222145 | 3325 | 963 | 49232193 | 49232847 | 1385 | 2038 | 393 | 611 |
| 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 |
| Q5U651 | 393 | 611 | 1 | 963 | Chain | ID=PRO_0000097163;Note=Ras-interacting protein 1 |
| Q5U651 | 393 | 611 | 600 | 897 | Domain | Note=Dilute;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00503 |
| Q5U651 | 393 | 611 | 419 | 419 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q5U651 | 393 | 611 | 601 | 601 | Natural variant | ID=VAR_051302;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15031288;Dbxref=dbSNP:rs2287922,PMID:15031288 |
| Q5U651 | 393 | 611 | 500 | 500 | Sequence conflict | Note=P->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5U651 | 393 | 611 | 511 | 517 | Sequence conflict | Note=PPGPGWA->RQPWLG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q5U651 | 393 | 611 | 1 | 963 | Chain | ID=PRO_0000097163;Note=Ras-interacting protein 1 |
| Q5U651 | 393 | 611 | 600 | 897 | Domain | Note=Dilute;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00503 |
| Q5U651 | 393 | 611 | 419 | 419 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q5U651 | 393 | 611 | 601 | 601 | Natural variant | ID=VAR_051302;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15031288;Dbxref=dbSNP:rs2287922,PMID:15031288 |
| Q5U651 | 393 | 611 | 500 | 500 | Sequence conflict | Note=P->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5U651 | 393 | 611 | 511 | 517 | Sequence conflict | Note=PPGPGWA->RQPWLG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for RASIP1 |
| - 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_320421 | 49227974 | 49228217 | 49228149 | 49228149 | Frame_Shift_Del | C | - | p.G732fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_320442 | 49230264 | 49230415 | 49230387 | 49230387 | Frame_Shift_Del | G | - | p.L634fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_320442 | 49230264 | 49230415 | 49230397 | 49230397 | Frame_Shift_Del | G | - | p.P630fs |
| LUAD | TCGA-55-8511-01 | exon_skip_320446 | 49232194 | 49232847 | 49232628 | 49232628 | Frame_Shift_Del | G | - | p.R467fs |
| BLCA | TCGA-CF-A27C-01 | exon_skip_320446 | 49232194 | 49232847 | 49232663 | 49232663 | Frame_Shift_Del | C | - | p.G455fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_320446 | 49232194 | 49232847 | 49232773 | 49232773 | Frame_Shift_Del | C | - | p.G418fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_320446 | 49232194 | 49232847 | 49232773 | 49232773 | Frame_Shift_Del | C | - | p.G418fs |
| CESC | TCGA-C5-A2LX-01 | exon_skip_320400 | 49225111 | 49225258 | 49225250 | 49225250 | Nonsense_Mutation | C | T | p.W851* |
| BRCA | TCGA-EW-A1PE-01 | exon_skip_320421 | 49227974 | 49228217 | 49227977 | 49227977 | Nonsense_Mutation | G | A | p.R790* |
| - 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 |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49230264 | 49230415 | 49230401 | 49230401 | Frame_Shift_Del | A | - | p.V629fs |
| HEC151_ENDOMETRIUM | 49225111 | 49225258 | 49225129 | 49225129 | Missense_Mutation | G | A | p.R892W |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49225111 | 49225258 | 49225173 | 49225173 | Missense_Mutation | G | A | p.P877L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49230042 | 49230145 | 49230078 | 49230078 | Missense_Mutation | C | G | p.M697I |
| SNU761_LIVER | 49230264 | 49230415 | 49230326 | 49230326 | Missense_Mutation | G | A | p.T654M |
| CAL39_VULVA | 49230264 | 49230415 | 49230356 | 49230356 | Missense_Mutation | C | T | p.R644Q |
| OUMS23_LARGE_INTESTINE | 49230264 | 49230415 | 49230402 | 49230402 | Missense_Mutation | C | G | p.V629L |
| KYSE140_OESOPHAGUS | 49232194 | 49232847 | 49232312 | 49232313 | Missense_Mutation | GG | AA | p.P572F |
| BT474_BREAST | 49232194 | 49232847 | 49232324 | 49232324 | Missense_Mutation | C | G | p.G568A |
| SKMEL30_SKIN | 49232194 | 49232847 | 49232349 | 49232349 | Missense_Mutation | C | G | p.V560L |
| NCIH358_LUNG | 49232194 | 49232847 | 49232358 | 49232358 | Missense_Mutation | C | A | p.G557C |
| NCIH661_LUNG | 49232194 | 49232847 | 49232406 | 49232406 | Missense_Mutation | G | C | p.R541G |
| CCK81_LARGE_INTESTINE | 49232194 | 49232847 | 49232528 | 49232528 | Missense_Mutation | G | A | p.P500L |
| UMUC14_URINARY_TRACT | 49232194 | 49232847 | 49232763 | 49232763 | Missense_Mutation | G | C | p.P422A |
| BEN_LUNG | 49232194 | 49232847 | 49232763 | 49232763 | Missense_Mutation | G | T | p.P422T |
| 8305C_THYROID | 49232194 | 49232847 | 49232778 | 49232778 | Missense_Mutation | C | T | p.G417R |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 49232194 | 49232847 | 49232778 | 49232778 | Missense_Mutation | C | T | p.G417R |
| DJM1_SKIN | 49232194 | 49232847 | 49232778 | 49232778 | Missense_Mutation | C | T | p.G417R |
| ECC10_STOMACH | 49232194 | 49232847 | 49232778 | 49232778 | Missense_Mutation | C | T | p.G417R |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 49232194 | 49232847 | 49232778 | 49232778 | Missense_Mutation | C | T | p.G417R |
| KPNYS_AUTONOMIC_GANGLIA | 49232194 | 49232847 | 49232778 | 49232778 | Missense_Mutation | C | T | p.G417R |
| HDQP1_BREAST | 49225111 | 49225258 | 49225183 | 49225183 | Nonsense_Mutation | G | A | p.Q874* |
| NCIH1573_LUNG | 49227974 | 49228217 | 49228207 | 49228207 | Nonsense_Mutation | G | C | p.S713* |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49232194 | 49232847 | 49232802 | 49232802 | Nonsense_Mutation | G | A | p.R409* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASIP1 |
| 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 RASIP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASIP1 |
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RelatedDrugs for RASIP1 |
| 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 RASIP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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