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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 RUSC2 |
 Gene summary |
| Gene information | Gene symbol | RUSC2 | Gene ID | 9853 |
| Gene name | RUN and SH3 domain containing 2 | |
| Synonyms | Iporin|MRT61 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | iporinRUN and SH3 domain-containing protein 2interacting protein of Rab1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N2Y8 | |
| Context | PubMed: RUSC2 [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 RUSC2 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 RUSC2 |
| 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 RUSC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495675 | 9 | 35538976:35539105:35546426:35548532:35555056:35555698 | 35546426:35548532 | ENSG00000198853.7 | ENST00000455600.1 |
| exon_skip_495679 | 9 | 35555056:35555698:35555948:35556134:35556304:35556445 | 35555948:35556134 | ENSG00000198853.7 | ENST00000361226.3,ENST00000455600.1 |
| exon_skip_495681 | 9 | 35558193:35558368:35558458:35558564:35559222:35559269 | 35558458:35558564 | ENSG00000198853.7 | ENST00000361226.3,ENST00000455600.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RUSC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495675 | 9 | 35538976:35539105:35546426:35548532:35555056:35555698 | 35546426:35548532 | ENSG00000198853.7 | ENST00000455600.1 |
| exon_skip_495679 | 9 | 35555056:35555698:35555948:35556134:35556304:35556445 | 35555948:35556134 | ENSG00000198853.7 | ENST00000361226.3,ENST00000455600.1 |
| exon_skip_495681 | 9 | 35558193:35558368:35558458:35558564:35559222:35559269 | 35558458:35558564 | ENSG00000198853.7 | ENST00000361226.3,ENST00000455600.1 |
| 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 RUSC2 |
| 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 |
| ENST00000455600 | 35546426 | 35548532 | 5CDS-5UTR |
| ENST00000455600 | 35558458 | 35558564 | Frame-shift |
| ENST00000455600 | 35555948 | 35556134 | 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 |
| ENST00000455600 | 35546426 | 35548532 | 5CDS-5UTR |
| ENST00000455600 | 35558458 | 35558564 | Frame-shift |
| ENST00000455600 | 35555948 | 35556134 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RUSC2 |
| 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 |
| ENST00000455600 | 5653 | 1516 | 35555948 | 35556134 | 3226 | 3411 | 885 | 947 |
| 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 |
| ENST00000455600 | 5653 | 1516 | 35555948 | 35556134 | 3226 | 3411 | 885 | 947 |
| 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 |
| Q8N2Y8 | 885 | 947 | 1 | 1516 | Chain | ID=PRO_0000097534;Note=Iporin |
| Q8N2Y8 | 885 | 947 | 866 | 1516 | Natural variant | ID=VAR_080461;Note=In MRT61%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27612186;Dbxref=PMID:27612186 |
| 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 |
| Q8N2Y8 | 885 | 947 | 1 | 1516 | Chain | ID=PRO_0000097534;Note=Iporin |
| Q8N2Y8 | 885 | 947 | 866 | 1516 | Natural variant | ID=VAR_080461;Note=In MRT61%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27612186;Dbxref=PMID:27612186 |
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SNVs in the skipped exons for RUSC2 |
| - 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-A39Y-01 | exon_skip_495675 | 35546427 | 35548532 | 35546810 | 35546810 | Frame_Shift_Del | A | - | p.K98fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495675 | 35546427 | 35548532 | 35547399 | 35547399 | Frame_Shift_Del | C | - | p.T294fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_495675 | 35546427 | 35548532 | 35547399 | 35547399 | Frame_Shift_Del | C | - | p.T294fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_495675 | 35546427 | 35548532 | 35547423 | 35547423 | Frame_Shift_Del | C | - | p.A302fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495675 | 35546427 | 35548532 | 35547557 | 35547557 | Frame_Shift_Del | G | - | p.G348fs |
| KIRP | TCGA-P4-A5EB-01 | exon_skip_495675 | 35546427 | 35548532 | 35547875 | 35547875 | Frame_Shift_Del | G | - | p.E452fs |
| KIRP | TCGA-P4-A5EB-01 | exon_skip_495675 | 35546427 | 35548532 | 35547875 | 35547875 | Frame_Shift_Del | G | - | p.V453fs |
| READ | TCGA-EI-6507-01 | exon_skip_495675 | 35546427 | 35548532 | 35547974 | 35547974 | Frame_Shift_Del | C | - | p.S485fs |
| STAD | TCGA-B7-5816-01 | exon_skip_495675 | 35546427 | 35548532 | 35547974 | 35547974 | Frame_Shift_Del | C | - | p.S485fs |
| STAD | TCGA-BR-8361-01 | exon_skip_495675 | 35546427 | 35548532 | 35547974 | 35547974 | Frame_Shift_Del | C | - | p.S485fs |
| STAD | TCGA-CG-5728-01 | exon_skip_495675 | 35546427 | 35548532 | 35547974 | 35547974 | Frame_Shift_Del | C | - | p.S485fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_495675 | 35546427 | 35548532 | 35548266 | 35548266 | Frame_Shift_Del | G | - | p.R583fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495681 | 35558459 | 35558564 | 35558494 | 35558494 | Frame_Shift_Del | A | - | p.K1091fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495681 | 35558459 | 35558564 | 35558550 | 35558550 | Frame_Shift_Del | C | - | p.I1109fs |
| LUAD | TCGA-17-Z014-01 | exon_skip_495675 | 35546427 | 35548532 | 35547523 | 35547523 | Nonsense_Mutation | T | A | p.Y335* |
| GBM | TCGA-06-0185-01 | exon_skip_495675 | 35546427 | 35548532 | 35548294 | 35548294 | Nonsense_Mutation | C | A | p.C592* |
| HNSC | TCGA-UF-A71D-01 | exon_skip_495675 | 35546427 | 35548532 | 35548376 | 35548376 | Nonsense_Mutation | C | T | p.Q620* |
| SKCM | TCGA-D3-A1QB-06 | exon_skip_495681 | 35558459 | 35558564 | 35558458 | 35558458 | Splice_Site | G | A | . |
| - 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 |
| HEC6_ENDOMETRIUM | 35546427 | 35548532 | 35547974 | 35547974 | Frame_Shift_Del | C | - | p.P487fs |
| SW900_LUNG | 35546427 | 35548532 | 35546568 | 35546569 | Frame_Shift_Ins | - | C | p.IP17fs |
| HMVII_SKIN | 35546427 | 35548532 | 35546773 | 35546778 | In_Frame_Del | GAGTAG | - | p.SR88del |
| LS411N_LARGE_INTESTINE | 35546427 | 35548532 | 35546526 | 35546526 | Missense_Mutation | G | A | p.S3N |
| LOVO_LARGE_INTESTINE | 35546427 | 35548532 | 35546724 | 35546724 | Missense_Mutation | G | A | p.S69N |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35546753 | 35546753 | Missense_Mutation | C | T | p.R79W |
| SW982_SOFT_TISSUE | 35546427 | 35548532 | 35546814 | 35546814 | Missense_Mutation | G | A | p.R99Q |
| KM12_LARGE_INTESTINE | 35546427 | 35548532 | 35546823 | 35546823 | Missense_Mutation | C | T | p.P102L |
| CAL72_BONE | 35546427 | 35548532 | 35546876 | 35546876 | Missense_Mutation | G | A | p.D120N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35546888 | 35546888 | Missense_Mutation | G | A | p.D124N |
| ES7_BONE | 35546427 | 35548532 | 35546941 | 35546941 | Missense_Mutation | T | G | p.F141L |
| SKMEL2_SKIN | 35546427 | 35548532 | 35547009 | 35547009 | Missense_Mutation | G | A | p.S164N |
| NCIH2126_LUNG | 35546427 | 35548532 | 35547118 | 35547118 | Missense_Mutation | G | T | p.M200I |
| NCIH1734_LUNG | 35546427 | 35548532 | 35547171 | 35547171 | Missense_Mutation | G | C | p.S218T |
| HEC108_ENDOMETRIUM | 35546427 | 35548532 | 35547198 | 35547198 | Missense_Mutation | A | G | p.Q227R |
| T24_URINARY_TRACT | 35546427 | 35548532 | 35547210 | 35547210 | Missense_Mutation | T | G | p.L231R |
| SLR20_KIDNEY | 35546427 | 35548532 | 35547210 | 35547210 | Missense_Mutation | T | G | p.L231R |
| UACC893_BREAST | 35546427 | 35548532 | 35547292 | 35547292 | Missense_Mutation | G | C | p.Q258H |
| HS695T_SKIN | 35546427 | 35548532 | 35547344 | 35547344 | Missense_Mutation | A | G | p.S276G |
| 8305C_THYROID | 35546427 | 35548532 | 35547368 | 35547368 | Missense_Mutation | T | G | p.F284V |
| HS698T_FIBROBLAST | 35546427 | 35548532 | 35547381 | 35547381 | Missense_Mutation | A | G | p.Y288C |
| MERO48A_LUNG | 35546427 | 35548532 | 35547558 | 35547558 | Missense_Mutation | G | A | p.G347E |
| MZ2MEL_SKIN | 35546427 | 35548532 | 35547575 | 35547575 | Missense_Mutation | C | T | p.H353Y |
| SKMES1_LUNG | 35546427 | 35548532 | 35547624 | 35547624 | Missense_Mutation | A | G | p.H369R |
| HS834T_FIBROBLAST | 35546427 | 35548532 | 35547680 | 35547680 | Missense_Mutation | C | T | p.R388C |
| 22RV1_PROSTATE | 35546427 | 35548532 | 35547681 | 35547681 | Missense_Mutation | G | A | p.R388H |
| IGROV1_OVARY | 35546427 | 35548532 | 35547837 | 35547837 | Missense_Mutation | G | C | p.S440T |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35547950 | 35547950 | Missense_Mutation | G | A | p.G478R |
| SF126_CENTRAL_NERVOUS_SYSTEM | 35546427 | 35548532 | 35548064 | 35548064 | Missense_Mutation | C | T | p.R516C |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35548127 | 35548127 | Missense_Mutation | C | A | p.P537T |
| COLO824_BREAST | 35546427 | 35548532 | 35548173 | 35548173 | Missense_Mutation | A | G | p.K552R |
| CAOV3_OVARY | 35546427 | 35548532 | 35548196 | 35548196 | Missense_Mutation | C | T | p.P560S |
| SW684_SOFT_TISSUE | 35546427 | 35548532 | 35548269 | 35548269 | Missense_Mutation | G | A | p.G584E |
| SNU1040_LARGE_INTESTINE | 35546427 | 35548532 | 35548347 | 35548347 | Missense_Mutation | G | A | p.G610D |
| KM12_LARGE_INTESTINE | 35546427 | 35548532 | 35548377 | 35548377 | Missense_Mutation | A | G | p.Q620R |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35548394 | 35548394 | Missense_Mutation | C | A | p.H626N |
| NCIH1770_LUNG | 35546427 | 35548532 | 35548398 | 35548398 | Missense_Mutation | C | T | p.S627F |
| NCIH2106_LUNG | 35546427 | 35548532 | 35548398 | 35548398 | Missense_Mutation | C | T | p.S627F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35548460 | 35548460 | Missense_Mutation | G | A | p.D648N |
| HEC59_ENDOMETRIUM | 35555949 | 35556134 | 35555988 | 35555988 | Missense_Mutation | A | G | p.Y899C |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35555949 | 35556134 | 35556017 | 35556017 | Missense_Mutation | G | T | p.G909C |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35555949 | 35556134 | 35556104 | 35556104 | Missense_Mutation | G | C | p.A938P |
| NCIH2126_LUNG | 35546427 | 35548532 | 35547118 | 35547119 | Nonsense_Mutation | GG | TT | p.200_201ME>I* |
| NCIH2126_LUNG | 35546427 | 35548532 | 35547119 | 35547119 | Nonsense_Mutation | G | T | p.E201* |
| HCC2998_LARGE_INTESTINE | 35546427 | 35548532 | 35547853 | 35547853 | Nonsense_Mutation | T | G | p.Y445* |
| IGROV1_OVARY | 35546427 | 35548532 | 35548229 | 35548229 | Nonsense_Mutation | C | T | p.Q571* |
| NCIH1836_LUNG | 35558459 | 35558564 | 35558459 | 35558459 | Splice_Site | G | A | p.G1079D |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35546427 | 35548532 | 35546521 | 35546521 | Start_Codon_SNP | G | A | p.M1I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RUSC2 |
| 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 RUSC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RUSC2 |
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RelatedDrugs for RUSC2 |
| 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 RUSC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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