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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 RFX2 |
 Gene summary |
| Gene information | Gene symbol | RFX2 | Gene ID | 5990 |
| Gene name | regulatory factor X2 | |
| Synonyms | - | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | DNA-binding protein RFX2HLA class II regulatory factor RFX2regulatory factor X 2regulatory factor X, 2 (influences HLA class II expression)trans-acting regulatory factor 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P48378 | |
| Context | PubMed: RFX2 [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 RFX2 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 RFX2 |
| 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 RFX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_313725 | 19 | 6002732:6002881:6004211:6004309:6007022:6007177 | 6004211:6004309 | ENSG00000087903.8 | ENST00000359161.3,ENST00000592546.1,ENST00000303657.5 |
| exon_skip_313727 | 19 | 6007785:6007813:6008116:6008235:6010146:6010262 | 6008116:6008235 | ENSG00000087903.8 | ENST00000359161.3,ENST00000592546.1,ENST00000589742.1,ENST00000303657.5 |
| exon_skip_313728 | 19 | 6008199:6008235:6010146:6010262:6012996:6013116 | 6010146:6010262 | ENSG00000087903.8 | ENST00000592337.1,ENST00000359161.3,ENST00000592546.1,ENST00000303657.5,ENST00000588021.1 |
| exon_skip_313729 | 19 | 6010192:6010262:6012996:6013116:6016100:6016282 | 6012996:6013116 | ENSG00000087903.8 | ENST00000592337.1,ENST00000359161.3,ENST00000592546.1,ENST00000586806.1,ENST00000303657.5,ENST00000588021.1 |
| exon_skip_313732 | 19 | 6016100:6016282:6026173:6026248:6039990:6040252 | 6026173:6026248 | ENSG00000087903.8 | ENST00000359161.3,ENST00000303657.5 |
| exon_skip_313733 | 19 | 6016100:6016282:6026173:6026248:6110403:6110457 | 6026173:6026248 | ENSG00000087903.8 | ENST00000586806.1 |
| exon_skip_313734 | 19 | 6016100:6016282:6039990:6040252:6042054:6042134 | 6039990:6040252 | ENSG00000087903.8 | ENST00000592546.1 |
| exon_skip_313738 | 19 | 6039990:6040252:6042054:6042134:6044203:6044293 | 6042054:6042134 | ENSG00000087903.8 | ENST00000359161.3,ENST00000592546.1,ENST00000592281.1,ENST00000586940.1,ENST00000592883.1,ENST00000587181.1,ENST00000303657.5,ENST00000592473.1,ENST00000593241.1 |
| exon_skip_313745 | 19 | 6042054:6042134:6044203:6044293:6047417:6047515 | 6044203:6044293 | ENSG00000087903.8 | ENST00000359161.3,ENST00000592546.1,ENST00000592281.1,ENST00000586940.1,ENST00000592883.1,ENST00000587181.1,ENST00000303657.5 |
| exon_skip_313746 | 19 | 6042054:6042134:6044203:6044293:6110403:6110457 | 6044203:6044293 | ENSG00000087903.8 | ENST00000593241.1 |
| exon_skip_313748 | 19 | 6044203:6044293:6047417:6047515:6110403:6110457 | 6047417:6047515 | ENSG00000087903.8 | ENST00000592172.1,ENST00000592546.1,ENST00000586940.1 |
| exon_skip_313749 | 19 | 6047417:6047515:6072015:6072158:6110403:6110457 | 6072015:6072158 | ENSG00000087903.8 | ENST00000587181.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RFX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_313725 | 19 | 6002732:6002881:6004211:6004309:6007022:6007177 | 6004211:6004309 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3,ENST00000592546.1 |
| exon_skip_313727 | 19 | 6007785:6007813:6008116:6008235:6010146:6010262 | 6008116:6008235 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3,ENST00000592546.1,ENST00000589742.1 |
| exon_skip_313728 | 19 | 6008199:6008235:6010146:6010262:6012996:6013116 | 6010146:6010262 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3,ENST00000592546.1,ENST00000588021.1,ENST00000592337.1 |
| exon_skip_313729 | 19 | 6010192:6010262:6012996:6013116:6016100:6016282 | 6012996:6013116 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3,ENST00000592546.1,ENST00000588021.1,ENST00000592337.1,ENST00000586806.1 |
| exon_skip_313732 | 19 | 6016100:6016282:6026173:6026248:6039990:6040252 | 6026173:6026248 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3 |
| exon_skip_313733 | 19 | 6016100:6016282:6026173:6026248:6110403:6110457 | 6026173:6026248 | ENSG00000087903.8 | ENST00000586806.1 |
| exon_skip_313734 | 19 | 6016100:6016282:6039990:6040252:6042054:6042134 | 6039990:6040252 | ENSG00000087903.8 | ENST00000592546.1 |
| exon_skip_313738 | 19 | 6039990:6040252:6042054:6042134:6044203:6044293 | 6042054:6042134 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3,ENST00000592546.1,ENST00000586940.1,ENST00000592473.1,ENST00000592883.1,ENST00000593241.1,ENST00000592281.1,ENST00000587181.1 |
| exon_skip_313739 | 19 | 6040213:6040252:6042054:6042134:6047417:6047515 | 6042054:6042134 | ENSG00000087903.8 | ENST00000586302.1 |
| exon_skip_313741 | 19 | 6039990:6040252:6044203:6044293:6047417:6047515 | 6044203:6044293 | ENSG00000087903.8 | ENST00000592172.1 |
| exon_skip_313745 | 19 | 6042054:6042134:6044203:6044293:6047417:6047515 | 6044203:6044293 | ENSG00000087903.8 | ENST00000303657.5,ENST00000359161.3,ENST00000592546.1,ENST00000586940.1,ENST00000592883.1,ENST00000592281.1,ENST00000587181.1 |
| exon_skip_313746 | 19 | 6042054:6042134:6044203:6044293:6110403:6110457 | 6044203:6044293 | ENSG00000087903.8 | ENST00000593241.1 |
| exon_skip_313747 | 19 | 6042054:6042134:6047417:6047515:6110403:6110457 | 6047417:6047515 | ENSG00000087903.8 | ENST00000586302.1 |
| exon_skip_313748 | 19 | 6044203:6044293:6047417:6047515:6110403:6110457 | 6047417:6047515 | ENSG00000087903.8 | ENST00000592546.1,ENST00000592172.1,ENST00000586940.1 |
| exon_skip_313749 | 19 | 6047417:6047515:6072015:6072158:6110403:6110457 | 6072015:6072158 | ENSG00000087903.8 | ENST00000587181.1 |
| 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 RFX2 |
| 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 |
| ENST00000303657 | 6004211 | 6004309 | Frame-shift |
| ENST00000359161 | 6004211 | 6004309 | Frame-shift |
| ENST00000303657 | 6008116 | 6008235 | Frame-shift |
| ENST00000359161 | 6008116 | 6008235 | Frame-shift |
| ENST00000303657 | 6010146 | 6010262 | Frame-shift |
| ENST00000359161 | 6010146 | 6010262 | Frame-shift |
| ENST00000303657 | 6042054 | 6042134 | Frame-shift |
| ENST00000359161 | 6042054 | 6042134 | Frame-shift |
| ENST00000303657 | 6012996 | 6013116 | In-frame |
| ENST00000359161 | 6012996 | 6013116 | In-frame |
| ENST00000303657 | 6026173 | 6026248 | In-frame |
| ENST00000359161 | 6026173 | 6026248 | In-frame |
| ENST00000303657 | 6044203 | 6044293 | In-frame |
| ENST00000359161 | 6044203 | 6044293 | 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 |
| ENST00000303657 | 6004211 | 6004309 | Frame-shift |
| ENST00000359161 | 6004211 | 6004309 | Frame-shift |
| ENST00000303657 | 6008116 | 6008235 | Frame-shift |
| ENST00000359161 | 6008116 | 6008235 | Frame-shift |
| ENST00000303657 | 6010146 | 6010262 | Frame-shift |
| ENST00000359161 | 6010146 | 6010262 | Frame-shift |
| ENST00000303657 | 6042054 | 6042134 | Frame-shift |
| ENST00000359161 | 6042054 | 6042134 | Frame-shift |
| ENST00000303657 | 6012996 | 6013116 | In-frame |
| ENST00000359161 | 6012996 | 6013116 | In-frame |
| ENST00000303657 | 6026173 | 6026248 | In-frame |
| ENST00000359161 | 6026173 | 6026248 | In-frame |
| ENST00000303657 | 6044203 | 6044293 | In-frame |
| ENST00000359161 | 6044203 | 6044293 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RFX2 |
| 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 |
| ENST00000303657 | 4010 | 723 | 6044203 | 6044293 | 241 | 330 | 30 | 60 |
| ENST00000359161 | 3612 | 723 | 6044203 | 6044293 | 196 | 285 | 30 | 60 |
| ENST00000303657 | 4010 | 723 | 6026173 | 6026248 | 673 | 747 | 174 | 199 |
| ENST00000359161 | 3612 | 723 | 6026173 | 6026248 | 628 | 702 | 174 | 199 |
| ENST00000303657 | 4010 | 723 | 6012996 | 6013116 | 930 | 1049 | 260 | 299 |
| ENST00000359161 | 3612 | 723 | 6012996 | 6013116 | 885 | 1004 | 260 | 299 |
| 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 |
| ENST00000303657 | 4010 | 723 | 6044203 | 6044293 | 241 | 330 | 30 | 60 |
| ENST00000359161 | 3612 | 723 | 6044203 | 6044293 | 196 | 285 | 30 | 60 |
| ENST00000303657 | 4010 | 723 | 6026173 | 6026248 | 673 | 747 | 174 | 199 |
| ENST00000359161 | 3612 | 723 | 6026173 | 6026248 | 628 | 702 | 174 | 199 |
| ENST00000303657 | 4010 | 723 | 6012996 | 6013116 | 930 | 1049 | 260 | 299 |
| ENST00000359161 | 3612 | 723 | 6012996 | 6013116 | 885 | 1004 | 260 | 299 |
| 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 |
| P48378 | 30 | 60 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 30 | 60 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 30 | 60 | 37 | 37 | Natural variant | ID=VAR_036530;Note=In a breast cancer sample%3B somatic mutation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| P48378 | 30 | 60 | 37 | 37 | Natural variant | ID=VAR_036530;Note=In a breast cancer sample%3B somatic mutation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| P48378 | 30 | 60 | 44 | 44 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48378 | 30 | 60 | 44 | 44 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48378 | 174 | 199 | 175 | 199 | Alternative sequence | ID=VSP_037811;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P48378 | 174 | 199 | 175 | 199 | Alternative sequence | ID=VSP_037811;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P48378 | 174 | 199 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 174 | 199 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 174 | 199 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| P48378 | 174 | 199 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| P48378 | 260 | 299 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 260 | 299 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 260 | 299 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| P48378 | 260 | 299 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| 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 |
| P48378 | 30 | 60 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 30 | 60 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 30 | 60 | 37 | 37 | Natural variant | ID=VAR_036530;Note=In a breast cancer sample%3B somatic mutation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| P48378 | 30 | 60 | 37 | 37 | Natural variant | ID=VAR_036530;Note=In a breast cancer sample%3B somatic mutation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| P48378 | 30 | 60 | 44 | 44 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48378 | 30 | 60 | 44 | 44 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48378 | 174 | 199 | 175 | 199 | Alternative sequence | ID=VSP_037811;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P48378 | 174 | 199 | 175 | 199 | Alternative sequence | ID=VSP_037811;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P48378 | 174 | 199 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 174 | 199 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 174 | 199 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| P48378 | 174 | 199 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| P48378 | 260 | 299 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 260 | 299 | 1 | 723 | Chain | ID=PRO_0000215288;Note=DNA-binding protein RFX2 |
| P48378 | 260 | 299 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
| P48378 | 260 | 299 | 199 | 274 | DNA binding | Note=RFX-type winged-helix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00858 |
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SNVs in the skipped exons for RFX2 |
| - 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-G3-A3CJ-01 | exon_skip_313727 | 6008117 | 6008235 | 6008201 | 6008201 | Frame_Shift_Del | G | - | p.P350fs |
| THYM | TCGA-ZB-A965-01 | exon_skip_313727 | 6008117 | 6008235 | 6008208 | 6008208 | Frame_Shift_Del | G | - | p.P348fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_313732 exon_skip_313733 | 6026174 | 6026248 | 6026218 | 6026218 | Frame_Shift_Del | T | - | p.S185fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_313732 exon_skip_313733 | 6026174 | 6026248 | 6026218 | 6026218 | Frame_Shift_Del | T | - | p.S185fs |
| COAD | TCGA-AA-3663-01 | exon_skip_313734 | 6039991 | 6040252 | 6040090 | 6040090 | Frame_Shift_Del | C | - | p.S142fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_313732 exon_skip_313733 | 6026174 | 6026248 | 6026217 | 6026218 | Frame_Shift_Ins | - | T | p.R185fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_313732 exon_skip_313733 | 6026174 | 6026248 | 6026217 | 6026218 | Frame_Shift_Ins | - | T | p.S185fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_313732 exon_skip_313733 | 6026174 | 6026248 | 6026228 | 6026229 | Frame_Shift_Ins | - | T | p.N181fs |
| HNSC | TCGA-CR-6488-01 | exon_skip_313725 | 6004212 | 6004309 | 6004277 | 6004277 | Nonsense_Mutation | T | A | p.K479* |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_313725 | 6004212 | 6004309 | 6004311 | 6004311 | Splice_Site | T | C | e12-2 |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_313729 | 6012997 | 6013116 | 6013117 | 6013117 | Splice_Site | C | A | e7-1 |
| STAD | TCGA-HU-A4H3-01 | exon_skip_313738 | 6042055 | 6042134 | 6042053 | 6042053 | Splice_Site | A | G | p.I87_splice |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6008117 | 6008235 | 6008216 | 6008216 | Frame_Shift_Del | G | - | p.P345fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 6039991 | 6040252 | 6040045 | 6040045 | Frame_Shift_Del | C | - | p.G156fs |
| SW48_LARGE_INTESTINE | 6039991 | 6040252 | 6040090 | 6040090 | Frame_Shift_Del | C | - | p.G141fs |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6039991 | 6040252 | 6040150 | 6040153 | Frame_Shift_Del | GGCT | - | p.AA120fs |
| EFO27_OVARY | 6004212 | 6004309 | 6004288 | 6004288 | Missense_Mutation | C | T | p.R475H |
| COLO684_ENDOMETRIUM | 6004212 | 6004309 | 6004297 | 6004297 | Missense_Mutation | T | C | p.Q472R |
| MEWO_SKIN | 6008117 | 6008235 | 6008217 | 6008217 | Missense_Mutation | G | A | p.P345L |
| MZ7B_MATCHED_NORMAL_TISSUE | 6010147 | 6010262 | 6010231 | 6010231 | Missense_Mutation | C | T | p.G311R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6010147 | 6010262 | 6010257 | 6010257 | Missense_Mutation | C | T | p.R302Q |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6012997 | 6013116 | 6013039 | 6013039 | Missense_Mutation | T | C | p.Q286R |
| SW626_OVARY | 6012997 | 6013116 | 6013042 | 6013042 | Missense_Mutation | G | A | p.T285M |
| HEC251_ENDOMETRIUM | 6026174 | 6026248 | 6026188 | 6026188 | Missense_Mutation | A | C | p.L195V |
| KNS42_CENTRAL_NERVOUS_SYSTEM | 6039991 | 6040252 | 6040086 | 6040086 | Missense_Mutation | G | T | p.P143T |
| GEO_LARGE_INTESTINE | 6039991 | 6040252 | 6040095 | 6040095 | Missense_Mutation | C | T | p.G140R |
| MDAMB231_BREAST | 6039991 | 6040252 | 6040098 | 6040098 | Missense_Mutation | C | T | p.V139I |
| OV56_OVARY | 6039991 | 6040252 | 6040136 | 6040136 | Missense_Mutation | G | A | p.A126V |
| HCT15_LARGE_INTESTINE | 6039991 | 6040252 | 6040165 | 6040165 | Missense_Mutation | C | A | p.Q116H |
| CCK81_LARGE_INTESTINE | 6042055 | 6042134 | 6042116 | 6042116 | Missense_Mutation | C | A | p.V67L |
| HCC1395_BREAST | 6044204 | 6044293 | 6044274 | 6044274 | Missense_Mutation | G | C | p.A37G |
| JHUEM1_ENDOMETRIUM | 6044204 | 6044293 | 6044291 | 6044291 | Missense_Mutation | C | A | p.R31S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6047418 | 6047515 | 6047428 | 6047428 | Missense_Mutation | G | A | p.A27V |
| SW156_KIDNEY | 6012997 | 6013116 | 6012998 | 6012998 | Splice_Site | T | A | p.R300W |
| JHH7_LIVER | 6026174 | 6026248 | 6026175 | 6026175 | Splice_Site | T | C | p.H199R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RFX2 |
| 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 RFX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RFX2 |
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RelatedDrugs for RFX2 |
| 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 RFX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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