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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 R3HDM1 |
 Gene summary |
| Gene information | Gene symbol | R3HDM1 | Gene ID | 23518 |
| Gene name | R3H domain containing 1 | |
| Synonyms | R3HDM | |
| Cytomap | 2q21.3 | |
| Type of gene | protein-coding | |
| Description | R3H domain-containing protein 1R3H domain (binds single-stranded nucleic acids) containing | |
| Modification date | 20180519 | |
| UniProtAcc | Q15032 | |
| Context | PubMed: R3HDM1 [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 R3HDM1 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 R3HDM1 |
| 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 R3HDM1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329988 | 2 | 136360069:136360278:136362375:136362586:136379063:136379141 | 136362375:136362586 | ENSG00000048991.12 | ENST00000409478.1,ENST00000329971.3 |
| exon_skip_329992 | 2 | 136362425:136362586:136373721:136373763:136374237:136374327 | 136373721:136373763 | ENSG00000048991.12 | ENST00000409606.1,ENST00000264160.4 |
| exon_skip_329994 | 2 | 136362425:136362586:136374237:136374327:136379063:136379141 | 136374237:136374327 | ENSG00000048991.12 | ENST00000456040.1 |
| exon_skip_329999 | 2 | 136379081:136379178:136380223:136380302:136389287:136389313 | 136380223:136380302 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000488035.1,ENST00000456040.1,ENST00000410054.1,ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330001 | 2 | 136380223:136380302:136389287:136389347:136389430:136389508 | 136389287:136389347 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000488035.1,ENST00000456040.1,ENST00000410054.1,ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330007 | 2 | 136396468:136396692:136399105:136399174:136402948:136403097 | 136399105:136399174 | ENSG00000048991.12 | ENST00000441871.1 |
| exon_skip_330008 | 2 | 136396468:136396692:136399105:136399360:136402948:136403097 | 136399105:136399360 | ENSG00000048991.12 | ENST00000409606.1,ENST00000410054.1,ENST00000429703.2,ENST00000264160.4 |
| exon_skip_330010 | 2 | 136402948:136403097:136407471:136407573:136409299:136409344 | 136407471:136407573 | ENSG00000048991.12 | ENST00000429703.2 |
| exon_skip_330012 | 2 | 136402948:136403097:136409299:136409602:136418839:136418963 | 136409299:136409602 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000410054.1 |
| exon_skip_330013 | 2 | 136402948:136403097:136409302:136409602:136418839:136418963 | 136409302:136409602 | ENSG00000048991.12 | ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330014 | 2 | 136409302:136409602:136418839:136418963:136432901:136433056 | 136418839:136418963 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000410054.1,ENST00000429703.2,ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330016 | 2 | 136432967:136433056:136437742:136437894:136467002:136467106 | 136437742:136437894 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000445855.1,ENST00000410054.1,ENST00000429703.2,ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330019 | 2 | 136467002:136467106:136467628:136467801:136473119:136473264 | 136467628:136467801 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000410054.1,ENST00000429703.2,ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330020 | 2 | 136467628:136467801:136473119:136473264:136479493:136479576 | 136473119:136473264 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000410054.1,ENST00000429703.2,ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330025 | 2 | 136473119:136473264:136479493:136479576:136480038:136480107 | 136479493:136479576 | ENSG00000048991.12 | ENST00000409478.1,ENST00000409606.1,ENST00000410054.1,ENST00000429703.2,ENST00000264160.4,ENST00000329971.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for R3HDM1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329978 | 2 | 136289096:136289203:136323306:136323495:136326327:136326379 | 136323306:136323495 | ENSG00000048991.12 | ENST00000438014.1 |
| exon_skip_329988 | 2 | 136360069:136360278:136362375:136362586:136379063:136379141 | 136362375:136362586 | ENSG00000048991.12 | ENST00000409478.1,ENST00000329971.3 |
| exon_skip_329992 | 2 | 136362425:136362586:136373721:136373763:136374237:136374327 | 136373721:136373763 | ENSG00000048991.12 | ENST00000264160.4,ENST00000409606.1 |
| exon_skip_329994 | 2 | 136362425:136362586:136374237:136374327:136379063:136379141 | 136374237:136374327 | ENSG00000048991.12 | ENST00000456040.1 |
| exon_skip_329999 | 2 | 136379081:136379178:136380223:136380302:136389287:136389313 | 136380223:136380302 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000488035.1,ENST00000410054.1,ENST00000409606.1,ENST00000456040.1 |
| exon_skip_330001 | 2 | 136380223:136380302:136389287:136389347:136389430:136389508 | 136389287:136389347 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000488035.1,ENST00000410054.1,ENST00000409606.1,ENST00000456040.1 |
| exon_skip_330007 | 2 | 136396468:136396692:136399105:136399174:136402948:136403097 | 136399105:136399174 | ENSG00000048991.12 | ENST00000441871.1 |
| exon_skip_330008 | 2 | 136396468:136396692:136399105:136399360:136402948:136403097 | 136399105:136399360 | ENSG00000048991.12 | ENST00000264160.4,ENST00000410054.1,ENST00000409606.1,ENST00000429703.2 |
| exon_skip_330010 | 2 | 136402948:136403097:136407471:136407573:136409299:136409344 | 136407471:136407573 | ENSG00000048991.12 | ENST00000429703.2 |
| exon_skip_330012 | 2 | 136402948:136403097:136409299:136409602:136418839:136418963 | 136409299:136409602 | ENSG00000048991.12 | ENST00000409478.1,ENST00000410054.1,ENST00000409606.1 |
| exon_skip_330013 | 2 | 136402948:136403097:136409302:136409602:136418839:136418963 | 136409302:136409602 | ENSG00000048991.12 | ENST00000264160.4,ENST00000329971.3 |
| exon_skip_330014 | 2 | 136409302:136409602:136418839:136418963:136432901:136433056 | 136418839:136418963 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000410054.1,ENST00000409606.1,ENST00000429703.2 |
| exon_skip_330016 | 2 | 136432967:136433056:136437742:136437894:136467002:136467106 | 136437742:136437894 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000410054.1,ENST00000409606.1,ENST00000429703.2,ENST00000445855.1 |
| exon_skip_330019 | 2 | 136467002:136467106:136467628:136467801:136473119:136473264 | 136467628:136467801 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000410054.1,ENST00000409606.1,ENST00000429703.2 |
| exon_skip_330020 | 2 | 136467628:136467801:136473119:136473264:136479493:136479576 | 136473119:136473264 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000410054.1,ENST00000409606.1,ENST00000429703.2 |
| exon_skip_330025 | 2 | 136473119:136473264:136479493:136479576:136480038:136480107 | 136479493:136479576 | ENSG00000048991.12 | ENST00000409478.1,ENST00000264160.4,ENST00000329971.3,ENST00000410054.1,ENST00000409606.1,ENST00000429703.2 |
| 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 R3HDM1 |
| 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 |
| ENST00000264160 | 136380223 | 136380302 | Frame-shift |
| ENST00000264160 | 136418839 | 136418963 | Frame-shift |
| ENST00000264160 | 136437742 | 136437894 | Frame-shift |
| ENST00000264160 | 136467628 | 136467801 | Frame-shift |
| ENST00000264160 | 136473119 | 136473264 | Frame-shift |
| ENST00000264160 | 136479493 | 136479576 | Frame-shift |
| ENST00000264160 | 136373721 | 136373763 | In-frame |
| ENST00000264160 | 136389287 | 136389347 | In-frame |
| ENST00000264160 | 136399105 | 136399360 | In-frame |
| ENST00000264160 | 136409302 | 136409602 | 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 |
| ENST00000264160 | 136380223 | 136380302 | Frame-shift |
| ENST00000264160 | 136418839 | 136418963 | Frame-shift |
| ENST00000264160 | 136437742 | 136437894 | Frame-shift |
| ENST00000264160 | 136467628 | 136467801 | Frame-shift |
| ENST00000264160 | 136473119 | 136473264 | Frame-shift |
| ENST00000264160 | 136479493 | 136479576 | Frame-shift |
| ENST00000264160 | 136373721 | 136373763 | In-frame |
| ENST00000264160 | 136389287 | 136389347 | In-frame |
| ENST00000264160 | 136399105 | 136399360 | In-frame |
| ENST00000264160 | 136409302 | 136409602 | In-frame |
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Infer the effects of exon skipping event on protein functional features for R3HDM1 |
| 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 |
| ENST00000264160 | 4665 | 1099 | 136373721 | 136373763 | 542 | 583 | 57 | 71 |
| ENST00000264160 | 4665 | 1099 | 136389287 | 136389347 | 868 | 927 | 166 | 185 |
| ENST00000264160 | 4665 | 1099 | 136399105 | 136399360 | 1590 | 1844 | 406 | 491 |
| ENST00000264160 | 4665 | 1099 | 136409302 | 136409602 | 1994 | 2293 | 541 | 641 |
| 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 |
| ENST00000264160 | 4665 | 1099 | 136373721 | 136373763 | 542 | 583 | 57 | 71 |
| ENST00000264160 | 4665 | 1099 | 136389287 | 136389347 | 868 | 927 | 166 | 185 |
| ENST00000264160 | 4665 | 1099 | 136399105 | 136399360 | 1590 | 1844 | 406 | 491 |
| ENST00000264160 | 4665 | 1099 | 136409302 | 136409602 | 1994 | 2293 | 541 | 641 |
| 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 |
| Q15032 | 57 | 71 | 45 | 100 | Alternative sequence | ID=VSP_054309;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15032 | 57 | 71 | 57 | 100 | Alternative sequence | ID=VSP_017344;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 |
| Q15032 | 57 | 71 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 166 | 185 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 166 | 185 | 168 | 231 | Domain | Note=R3H;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00382 |
| Q15032 | 406 | 491 | 406 | 490 | Alternative sequence | ID=VSP_017345;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 |
| Q15032 | 406 | 491 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 541 | 641 | 541 | 541 | Alternative sequence | ID=VSP_054310;Note=In isoform 2%2C isoform 3 and isoform 4. Q->QQ;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7584026;Dbxref=PMID:14702039,PMID:15489334,PMID:7584026 |
| Q15032 | 541 | 641 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 541 | 641 | 589 | 608 | Compositional bias | Note=Poly-Pro |
| Q15032 | 541 | 641 | 632 | 632 | Natural variant | ID=VAR_025424;Note=Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2305165,PMID:14702039 |
| 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 |
| Q15032 | 57 | 71 | 45 | 100 | Alternative sequence | ID=VSP_054309;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15032 | 57 | 71 | 57 | 100 | Alternative sequence | ID=VSP_017344;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 |
| Q15032 | 57 | 71 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 166 | 185 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 166 | 185 | 168 | 231 | Domain | Note=R3H;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00382 |
| Q15032 | 406 | 491 | 406 | 490 | Alternative sequence | ID=VSP_017345;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 |
| Q15032 | 406 | 491 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 541 | 641 | 541 | 541 | Alternative sequence | ID=VSP_054310;Note=In isoform 2%2C isoform 3 and isoform 4. Q->QQ;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7584026;Dbxref=PMID:14702039,PMID:15489334,PMID:7584026 |
| Q15032 | 541 | 641 | 1 | 1099 | Chain | ID=PRO_0000097139;Note=R3H domain-containing protein 1 |
| Q15032 | 541 | 641 | 589 | 608 | Compositional bias | Note=Poly-Pro |
| Q15032 | 541 | 641 | 632 | 632 | Natural variant | ID=VAR_025424;Note=Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2305165,PMID:14702039 |
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SNVs in the skipped exons for R3HDM1 |
| - 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. |
R3HDM1_COAD_exon_skip_329992_psi_boxplot.png |
R3HDM1_LUAD_exon_skip_330019_psi_boxplot.png |
R3HDM1_STAD_exon_skip_330012_psi_boxplot.png |
R3HDM1_STAD_exon_skip_330013_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-A1EG-01 | exon_skip_330008 | 136399106 | 136399360 | 136399313 | 136399313 | Frame_Shift_Del | A | - | p.E476fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330013 | 136409300 | 136409602 | 136409442 | 136409442 | Frame_Shift_Del | C | - | p.A588fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330013 | 136409303 | 136409602 | 136409442 | 136409442 | Frame_Shift_Del | C | - | p.A588fs |
| STAD | TCGA-CG-4306-01 | exon_skip_330013 | 136409300 | 136409602 | 136409442 | 136409442 | Frame_Shift_Del | C | - | p.A588fs |
| STAD | TCGA-CG-4306-01 | exon_skip_330013 | 136409303 | 136409602 | 136409442 | 136409442 | Frame_Shift_Del | C | - | p.A588fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330016 | 136437743 | 136437894 | 136437805 | 136437805 | Frame_Shift_Del | C | - | p.F755fs |
| SARC | TCGA-DX-AB2H-01 | exon_skip_330016 | 136437743 | 136437894 | 136437847 | 136437860 | Frame_Shift_Del | GCCTGTTTACTATA | - | p.MPVYYS769fs |
| SARC | TCGA-DX-AB2H-01 | exon_skip_330016 | 136437743 | 136437894 | 136437847 | 136437860 | Frame_Shift_Del | GCCTGTTTACTATA | - | p.P770fs |
| KIRC | TCGA-B2-5639-01 | exon_skip_330019 | 136467629 | 136467801 | 136467724 | 136467724 | Frame_Shift_Del | A | - | p.W851X |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330020 | 136473120 | 136473264 | 136473231 | 136473231 | Frame_Shift_Del | C | - | p.P915fs |
| COAD | TCGA-A6-6780-01 | exon_skip_329992 | 136373722 | 136373763 | 136373736 | 136373737 | Frame_Shift_Ins | - | T | p.S62fs |
| STAD | TCGA-SW-A7EA-01 | exon_skip_330016 | 136437743 | 136437894 | 136437772 | 136437773 | Frame_Shift_Ins | - | C | p.I744fs |
| STAD | TCGA-SW-A7EA-01 | exon_skip_330016 | 136437743 | 136437894 | 136437772 | 136437773 | Frame_Shift_Ins | - | C | p.IP744fs |
| SARC | TCGA-X6-A8C4-01 | exon_skip_329992 | 136373722 | 136373763 | 136373731 | 136373731 | Nonsense_Mutation | C | T | p.Q61* |
| STAD | TCGA-BR-6452-01 | exon_skip_330001 | 136389288 | 136389347 | 136389319 | 136389319 | Nonsense_Mutation | G | T | p.E177* |
| STAD | TCGA-BR-6452-01 | exon_skip_330001 | 136389288 | 136389347 | 136389319 | 136389319 | Nonsense_Mutation | G | T | p.E177X |
| UCEC | TCGA-B5-A0K6-01 | exon_skip_330013 | 136409300 | 136409602 | 136409417 | 136409417 | Nonsense_Mutation | C | T | p.Q580* |
| UCEC | TCGA-B5-A0K6-01 | exon_skip_330013 | 136409303 | 136409602 | 136409417 | 136409417 | Nonsense_Mutation | C | T | p.Q580* |
| LUAD | TCGA-78-7155-01 | exon_skip_330019 | 136467629 | 136467801 | 136467772 | 136467772 | Nonsense_Mutation | G | T | p.E868* |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_330020 | 136473120 | 136473264 | 136473261 | 136473261 | Nonsense_Mutation | C | T | p.Q925* |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_330020 | 136473120 | 136473264 | 136473261 | 136473261 | Nonsense_Mutation | C | T | p.Q925X |
| LIHC | TCGA-CC-A9FW-01 | exon_skip_330001 | 136389288 | 136389347 | 136389287 | 136389287 | Splice_Site | G | A | . |
| STAD | TCGA-BR-6802-01 | exon_skip_330020 | 136473120 | 136473264 | 136473119 | 136473119 | Splice_Site | G | T | . |
| STAD | TCGA-BR-6802-01 | exon_skip_330020 | 136473120 | 136473264 | 136473119 | 136473119 | Splice_Site | G | T | p.H878_splice |
| KICH | TCGA-KN-8421-01 | exon_skip_330020 | 136473120 | 136473264 | 136473266 | 136473266 | Splice_Site | T | A | . |
| KICH | TCGA-KN-8421-01 | exon_skip_330020 | 136473120 | 136473264 | 136473266 | 136473266 | Splice_Site | T | A | p.G926_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-78-7155-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_330019 | |
| Skipped exon start: 136467629 | |
| Skipped exon end: 136467801 | |
| Mutation start: 136467772 | |
| Mutation end: 136467772 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E868* | |
exon_skip_330019_LUAD_TCGA-78-7155-01.png | |
exon_skip_347552_LUAD_TCGA-78-7155-01.png | |
exon_skip_348786_LUAD_TCGA-78-7155-01.png | |
exon_skip_348789_LUAD_TCGA-78-7155-01.png | |
exon_skip_354315_LUAD_TCGA-78-7155-01.png | |
exon_skip_38477_LUAD_TCGA-78-7155-01.png | |
exon_skip_7325_LUAD_TCGA-78-7155-01.png | |
 | Sample: TCGA-CG-4306-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330013 | |
| Skipped exon start: 136409300 | |
| Skipped exon end: 136409602 | |
| Mutation start: 136409442 | |
| Mutation end: 136409442 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A588fs | |
| Sample: TCGA-CG-4306-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330013 | |
| Skipped exon start: 136409303 | |
| Skipped exon end: 136409602 | |
| Mutation start: 136409442 | |
| Mutation end: 136409442 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A588fs | |
exon_skip_111877_STAD_TCGA-CG-4306-01.png | |
exon_skip_299244_STAD_TCGA-CG-4306-01.png | |
exon_skip_319017_STAD_TCGA-CG-4306-01.png | |
exon_skip_330012_STAD_TCGA-CG-4306-01.png | |
exon_skip_330013_STAD_TCGA-CG-4306-01.png | |
exon_skip_373868_STAD_TCGA-CG-4306-01.png | |
exon_skip_438601_STAD_TCGA-CG-4306-01.png | |
exon_skip_438605_STAD_TCGA-CG-4306-01.png | |
 | Sample: TCGA-CG-4306-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330013 | |
| Skipped exon start: 136409300 | |
| Skipped exon end: 136409602 | |
| Mutation start: 136409442 | |
| Mutation end: 136409442 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A588fs | |
| Sample: TCGA-CG-4306-01 |
| Cancer type: STAD | |
| ESID: exon_skip_330013 | |
| Skipped exon start: 136409303 | |
| Skipped exon end: 136409602 | |
| Mutation start: 136409442 | |
| Mutation end: 136409442 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A588fs | |
| exon_skip_111877_STAD_TCGA-CG-4306-01.png | |
| exon_skip_299244_STAD_TCGA-CG-4306-01.png | |
| exon_skip_319017_STAD_TCGA-CG-4306-01.png | |
| exon_skip_330012_STAD_TCGA-CG-4306-01.png | |
| exon_skip_330013_STAD_TCGA-CG-4306-01.png | |
| exon_skip_373868_STAD_TCGA-CG-4306-01.png | |
| exon_skip_438601_STAD_TCGA-CG-4306-01.png | |
| exon_skip_438605_STAD_TCGA-CG-4306-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_330008 | |
| Skipped exon start: 136399106 | |
| Skipped exon end: 136399360 | |
| Mutation start: 136399313 | |
| Mutation end: 136399313 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E476fs | |
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 | Sample: TCGA-A6-6780-01 |
| Cancer type: COAD | |
| ESID: exon_skip_329992 | |
| Skipped exon start: 136373722 | |
| Skipped exon end: 136373763 | |
| Mutation start: 136373736 | |
| Mutation end: 136373737 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.S62fs | |
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| - 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 |
| LS411N_LARGE_INTESTINE | 136373722 | 136373763 | 136373751 | 136373751 | Frame_Shift_Del | A | - | p.G67fs |
| EFO27_OVARY | 136467629 | 136467801 | 136467633 | 136467635 | In_Frame_Del | ACC | - | p.P826del |
| SARC9371_BONE | 136362376 | 136362586 | 136362438 | 136362438 | Missense_Mutation | C | T | p.T8I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136362376 | 136362586 | 136362482 | 136362482 | Missense_Mutation | G | A | p.V23M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136362376 | 136362586 | 136362482 | 136362482 | Missense_Mutation | G | A | p.V23M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136362376 | 136362586 | 136362486 | 136362486 | Missense_Mutation | A | G | p.K24R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136362376 | 136362586 | 136362486 | 136362486 | Missense_Mutation | A | G | p.K24R |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136362376 | 136362586 | 136362540 | 136362540 | Missense_Mutation | T | C | p.L42S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136362376 | 136362586 | 136362543 | 136362543 | Missense_Mutation | T | C | p.V43A |
| S117_SOFT_TISSUE | 136362376 | 136362586 | 136362568 | 136362568 | Missense_Mutation | G | C | p.E51D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136374238 | 136374327 | 136374304 | 136374304 | Missense_Mutation | C | G | p.P94A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136374238 | 136374327 | 136374304 | 136374304 | Missense_Mutation | C | G | p.P94A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136374238 | 136374327 | 136374323 | 136374323 | Missense_Mutation | A | C | p.N100T |
| NCIH1703_LUNG | 136380224 | 136380302 | 136380299 | 136380299 | Missense_Mutation | C | G | p.P165R |
| IHH4_THYROID | 136389288 | 136389347 | 136389298 | 136389298 | Missense_Mutation | A | T | p.M170L |
| JHU028_LUNG | 136399106 | 136399360 | 136399180 | 136399180 | Missense_Mutation | G | A | p.A432T |
| JHU028_LUNG | 136399106 | 136399174 | 136399180 | 136399180 | Missense_Mutation | G | A | p.A432T |
| LB996EBV_MATCHED_NORMAL_TISSUE | 136399106 | 136399360 | 136399201 | 136399201 | Missense_Mutation | G | T | p.G439C |
| LB996RCC_KIDNEY | 136399106 | 136399360 | 136399201 | 136399201 | Missense_Mutation | G | T | p.G439C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136399106 | 136399360 | 136399318 | 136399318 | Missense_Mutation | G | A | p.A478T |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136399106 | 136399360 | 136399328 | 136399328 | Missense_Mutation | C | G | p.P481R |
| SNUC5_LARGE_INTESTINE | 136409300 | 136409602 | 136409343 | 136409343 | Missense_Mutation | G | A | p.R555H |
| SNUC5_LARGE_INTESTINE | 136409303 | 136409602 | 136409343 | 136409343 | Missense_Mutation | G | A | p.R555H |
| MIAPACA2_PANCREAS | 136409300 | 136409602 | 136409522 | 136409522 | Missense_Mutation | G | A | p.A615T |
| MIAPACA2_PANCREAS | 136409303 | 136409602 | 136409522 | 136409522 | Missense_Mutation | G | A | p.A615T |
| NCIH1688_LUNG | 136418840 | 136418963 | 136418842 | 136418842 | Missense_Mutation | G | T | p.M642I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136418840 | 136418963 | 136418959 | 136418959 | Missense_Mutation | G | C | p.Q681H |
| NCIH1869_LUNG | 136437743 | 136437894 | 136437755 | 136437755 | Missense_Mutation | C | G | p.Q739E |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136437743 | 136437894 | 136437773 | 136437773 | Missense_Mutation | C | G | p.P745A |
| ISTMES1_PLEURA | 136437743 | 136437894 | 136437773 | 136437773 | Missense_Mutation | C | T | p.P745S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136437743 | 136437894 | 136437773 | 136437773 | Missense_Mutation | C | G | p.P745A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136437743 | 136437894 | 136437773 | 136437773 | Missense_Mutation | C | G | p.P745A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136437743 | 136437894 | 136437800 | 136437800 | Missense_Mutation | A | G | p.M754V |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136437743 | 136437894 | 136437800 | 136437800 | Missense_Mutation | A | G | p.M754V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136437743 | 136437894 | 136437800 | 136437800 | Missense_Mutation | A | G | p.M754V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136437743 | 136437894 | 136437830 | 136437830 | Missense_Mutation | A | C | p.M764L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 136437743 | 136437894 | 136437830 | 136437830 | Missense_Mutation | A | C | p.M764L |
| KYSE30_OESOPHAGUS | 136437743 | 136437894 | 136437832 | 136437832 | Missense_Mutation | G | T | p.M764I |
| LU135_LUNG | 136437743 | 136437894 | 136437839 | 136437839 | Missense_Mutation | A | G | p.T767A |
| NCIH2882_LUNG | 136467629 | 136467801 | 136467676 | 136467676 | Missense_Mutation | A | C | p.S836R |
| BFTC905_URINARY_TRACT | 136467629 | 136467801 | 136467697 | 136467697 | Missense_Mutation | T | C | p.S843P |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136467629 | 136467801 | 136467785 | 136467785 | Missense_Mutation | T | A | p.V872E |
| M14_SKIN | 136473120 | 136473264 | 136473151 | 136473151 | Missense_Mutation | C | T | p.S888L |
| MDAMB435S_SKIN | 136473120 | 136473264 | 136473151 | 136473151 | Missense_Mutation | C | T | p.S888L |
| HEC108_ENDOMETRIUM | 136479494 | 136479576 | 136479497 | 136479497 | Missense_Mutation | A | G | p.D927G |
| SNUC5_LARGE_INTESTINE | 136479494 | 136479576 | 136479533 | 136479533 | Missense_Mutation | A | G | p.Y939C |
| HEC59_ENDOMETRIUM | 136399106 | 136399360 | 136399159 | 136399159 | Nonsense_Mutation | C | T | p.Q425* |
| HEC59_ENDOMETRIUM | 136399106 | 136399174 | 136399159 | 136399159 | Nonsense_Mutation | C | T | p.Q425* |
| CS1_BONE | 136437743 | 136437894 | 136437764 | 136437764 | Nonsense_Mutation | C | T | p.Q742* |
| NCIH740_LUNG | 136380224 | 136380302 | 136380301 | 136380301 | Splice_Site | A | C | p.R166R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for R3HDM1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for R3HDM1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for R3HDM1 |
Top |
RelatedDrugs for R3HDM1 |
| 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 |
Top |
RelatedDiseases for R3HDM1 |
| 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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