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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 ARID4A |
 Gene summary |
| Gene information | Gene symbol | ARID4A | Gene ID | 5926 |
| Gene name | AT-rich interaction domain 4A | |
| Synonyms | RBBP-1|RBBP1|RBP-1|RBP1 | |
| Cytomap | 14q23.1 | |
| Type of gene | protein-coding | |
| Description | AT-rich interactive domain-containing protein 4AARID domain-containing protein 4AAT rich interactive domain 4A (RBP1-like)retinoblastoma-binding protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P29374 | |
| Context | PubMed: ARID4A [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 |
| ARID4A | GO:0045892 | negative regulation of transcription, DNA-templated | 12724404 |
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Exon skipping events across known transcript of Ensembl for ARID4A 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 ARID4A |
| 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 ARID4A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106931 | 14 | 58766515:58766578:58768297:58768408:58771661:58771708 | 58768297:58768408 | ENSG00000032219.14 | ENST00000395168.3,ENST00000424658.1,ENST00000431317.2,ENST00000355431.3,ENST00000348476.3 |
| exon_skip_106934 | 14 | 58768297:58768408:58770255:58770479:58771661:58771708 | 58770255:58770479 | ENSG00000032219.14 | ENST00000431612.1 |
| exon_skip_106936 | 14 | 58771661:58771727:58772739:58772830:58785259:58785339 | 58772739:58772830 | ENSG00000032219.14 | ENST00000395168.3,ENST00000445108.1,ENST00000431317.2,ENST00000355431.3,ENST00000348476.3 |
| exon_skip_106939 | 14 | 58790202:58790335:58794954:58795034:58796245:58796322 | 58794954:58795034 | ENSG00000032219.14 | ENST00000395168.3,ENST00000445108.1,ENST00000431317.2,ENST00000355431.3,ENST00000348476.3 |
| exon_skip_106940 | 14 | 58811412:58811485:58813128:58813223:58813737:58813835 | 58813128:58813223 | ENSG00000032219.14 | ENST00000395168.3,ENST00000431317.2,ENST00000355431.3,ENST00000417477.2,ENST00000348476.3 |
| exon_skip_106941 | 14 | 58813128:58813223:58813737:58813835:58814364:58814596 | 58813737:58813835 | ENSG00000032219.14 | ENST00000395168.3,ENST00000431317.2,ENST00000355431.3,ENST00000417477.2,ENST00000348476.3 |
| exon_skip_106944 | 14 | 58825849:58825934:58827618:58827760:58830887:58832018 | 58827618:58827760 | ENSG00000032219.14 | ENST00000395168.3,ENST00000431317.2,ENST00000355431.3,ENST00000417477.2,ENST00000348476.3 |
| exon_skip_106946 | 14 | 58827618:58827760:58830887:58832018:58832235:58832340 | 58830887:58832018 | ENSG00000032219.14 | ENST00000395168.3,ENST00000431317.2,ENST00000355431.3,ENST00000348476.3 |
| exon_skip_106948 | 14 | 58832235:58832340:58832741:58832786:58833600:58833747 | 58832741:58832786 | ENSG00000032219.14 | ENST00000395168.3 |
| exon_skip_106949 | 14 | 58832235:58832340:58832741:58832948:58833600:58833747 | 58832741:58832948 | ENSG00000032219.14 | ENST00000355431.3 |
| exon_skip_106950 | 14 | 58832741:58832948:58833600:58833747:58838603:58838678 | 58833600:58833747 | ENSG00000032219.14 | ENST00000355431.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARID4A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106931 | 14 | 58766515:58766578:58768297:58768408:58771661:58771708 | 58768297:58768408 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000424658.1,ENST00000431317.2 |
| exon_skip_106934 | 14 | 58768297:58768408:58770255:58770479:58771661:58771708 | 58770255:58770479 | ENSG00000032219.14 | ENST00000431612.1 |
| exon_skip_106936 | 14 | 58771661:58771727:58772739:58772830:58785259:58785339 | 58772739:58772830 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000445108.1,ENST00000431317.2 |
| exon_skip_106939 | 14 | 58790202:58790335:58794954:58795034:58796245:58796322 | 58794954:58795034 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000445108.1,ENST00000431317.2 |
| exon_skip_106940 | 14 | 58811412:58811485:58813128:58813223:58813737:58813835 | 58813128:58813223 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000431317.2,ENST00000417477.2 |
| exon_skip_106941 | 14 | 58813128:58813223:58813737:58813835:58814364:58814596 | 58813737:58813835 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000431317.2,ENST00000417477.2 |
| exon_skip_106944 | 14 | 58825849:58825934:58827618:58827760:58830887:58832018 | 58827618:58827760 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000431317.2,ENST00000417477.2 |
| exon_skip_106946 | 14 | 58827618:58827760:58830887:58832018:58832235:58832340 | 58830887:58832018 | ENSG00000032219.14 | ENST00000355431.3,ENST00000348476.3,ENST00000395168.3,ENST00000431317.2 |
| exon_skip_106948 | 14 | 58832235:58832340:58832741:58832786:58833600:58833747 | 58832741:58832786 | ENSG00000032219.14 | ENST00000395168.3 |
| exon_skip_106949 | 14 | 58832235:58832340:58832741:58832948:58833600:58833747 | 58832741:58832948 | ENSG00000032219.14 | ENST00000355431.3 |
| exon_skip_106950 | 14 | 58832741:58832948:58833600:58833747:58838603:58838678 | 58833600:58833747 | ENSG00000032219.14 | ENST00000355431.3 |
| 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 ARID4A |
| 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 |
| ENST00000355431 | 58772739 | 58772830 | Frame-shift |
| ENST00000355431 | 58794954 | 58795034 | Frame-shift |
| ENST00000355431 | 58813128 | 58813223 | Frame-shift |
| ENST00000355431 | 58813737 | 58813835 | Frame-shift |
| ENST00000355431 | 58827618 | 58827760 | Frame-shift |
| ENST00000355431 | 58768297 | 58768408 | In-frame |
| ENST00000355431 | 58830887 | 58832018 | In-frame |
| ENST00000355431 | 58832741 | 58832948 | In-frame |
| ENST00000355431 | 58833600 | 58833747 | 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 |
| ENST00000355431 | 58772739 | 58772830 | Frame-shift |
| ENST00000355431 | 58794954 | 58795034 | Frame-shift |
| ENST00000355431 | 58813128 | 58813223 | Frame-shift |
| ENST00000355431 | 58813737 | 58813835 | Frame-shift |
| ENST00000355431 | 58827618 | 58827760 | Frame-shift |
| ENST00000355431 | 58768297 | 58768408 | In-frame |
| ENST00000355431 | 58830887 | 58832018 | In-frame |
| ENST00000355431 | 58832741 | 58832948 | In-frame |
| ENST00000355431 | 58833600 | 58833747 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARID4A |
| 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 |
| ENST00000355431 | 5908 | 1257 | 58768297 | 58768408 | 380 | 490 | 2 | 39 |
| ENST00000355431 | 5908 | 1257 | 58830887 | 58832018 | 2454 | 3584 | 693 | 1070 |
| ENST00000355431 | 5908 | 1257 | 58832741 | 58832948 | 3690 | 3896 | 1105 | 1174 |
| ENST00000355431 | 5908 | 1257 | 58833600 | 58833747 | 3897 | 4043 | 1174 | 1223 |
| 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 |
| ENST00000355431 | 5908 | 1257 | 58768297 | 58768408 | 380 | 490 | 2 | 39 |
| ENST00000355431 | 5908 | 1257 | 58830887 | 58832018 | 2454 | 3584 | 693 | 1070 |
| ENST00000355431 | 5908 | 1257 | 58832741 | 58832948 | 3690 | 3896 | 1105 | 1174 |
| ENST00000355431 | 5908 | 1257 | 58833600 | 58833747 | 3897 | 4043 | 1174 | 1223 |
| 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 |
| P29374 | 2 | 39 | 8 | 10 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MAM |
| P29374 | 2 | 39 | 15 | 20 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MAM |
| P29374 | 2 | 39 | 23 | 42 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MAM |
| P29374 | 2 | 39 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 2 | 39 | 4 | 121 | Region | Note=DNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24379399;Dbxref=PMID:24379399 |
| P29374 | 693 | 1070 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 693 | 1070 | 718 | 718 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 |
| P29374 | 693 | 1070 | 738 | 738 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29374 | 693 | 1070 | 759 | 759 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29374 | 693 | 1070 | 716 | 716 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P29374 | 693 | 1070 | 864 | 864 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P29374 | 693 | 1070 | 724 | 724 | Natural variant | ID=VAR_031567;Note=N->S;Dbxref=dbSNP:rs2230098 |
| P29374 | 693 | 1070 | 779 | 779 | Natural variant | ID=VAR_031568;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8414517;Dbxref=dbSNP:rs1051858,PMID:8414517 |
| P29374 | 693 | 1070 | 951 | 964 | Region | Note=Retinoblastoma protein binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29374 | 1105 | 1174 | 1106 | 1174 | Alternative sequence | ID=VSP_004371;Note=In isoform III. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1105 | 1174 | 1121 | 1174 | Alternative sequence | ID=VSP_004373;Note=In isoform II. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1105 | 1174 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 1105 | 1174 | 1109 | 1109 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| P29374 | 1105 | 1174 | 1145 | 1145 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P29374 | 1174 | 1223 | 1106 | 1174 | Alternative sequence | ID=VSP_004371;Note=In isoform III. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1174 | 1223 | 1121 | 1174 | Alternative sequence | ID=VSP_004373;Note=In isoform II. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1174 | 1223 | 1175 | 1175 | Alternative sequence | ID=VSP_004372;Note=In isoform III. N->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1174 | 1223 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 1174 | 1223 | 1178 | 1178 | Sequence conflict | Note=D->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29374 | 1174 | 1223 | 1196 | 1201 | Sequence conflict | Note=IRKYYM->SENIICL;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 |
| P29374 | 2 | 39 | 8 | 10 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MAM |
| P29374 | 2 | 39 | 15 | 20 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MAM |
| P29374 | 2 | 39 | 23 | 42 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MAM |
| P29374 | 2 | 39 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 2 | 39 | 4 | 121 | Region | Note=DNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24379399;Dbxref=PMID:24379399 |
| P29374 | 693 | 1070 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 693 | 1070 | 718 | 718 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 |
| P29374 | 693 | 1070 | 738 | 738 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29374 | 693 | 1070 | 759 | 759 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29374 | 693 | 1070 | 716 | 716 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P29374 | 693 | 1070 | 864 | 864 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P29374 | 693 | 1070 | 724 | 724 | Natural variant | ID=VAR_031567;Note=N->S;Dbxref=dbSNP:rs2230098 |
| P29374 | 693 | 1070 | 779 | 779 | Natural variant | ID=VAR_031568;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8414517;Dbxref=dbSNP:rs1051858,PMID:8414517 |
| P29374 | 693 | 1070 | 951 | 964 | Region | Note=Retinoblastoma protein binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29374 | 1105 | 1174 | 1106 | 1174 | Alternative sequence | ID=VSP_004371;Note=In isoform III. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1105 | 1174 | 1121 | 1174 | Alternative sequence | ID=VSP_004373;Note=In isoform II. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1105 | 1174 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 1105 | 1174 | 1109 | 1109 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| P29374 | 1105 | 1174 | 1145 | 1145 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P29374 | 1174 | 1223 | 1106 | 1174 | Alternative sequence | ID=VSP_004371;Note=In isoform III. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1174 | 1223 | 1121 | 1174 | Alternative sequence | ID=VSP_004373;Note=In isoform II. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1174 | 1223 | 1175 | 1175 | Alternative sequence | ID=VSP_004372;Note=In isoform III. N->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8455946;Dbxref=PMID:8455946 |
| P29374 | 1174 | 1223 | 1 | 1257 | Chain | ID=PRO_0000200580;Note=AT-rich interactive domain-containing protein 4A |
| P29374 | 1174 | 1223 | 1178 | 1178 | Sequence conflict | Note=D->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29374 | 1174 | 1223 | 1196 | 1201 | Sequence conflict | Note=IRKYYM->SENIICL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for ARID4A |
| - 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. |
ARID4A_LGG_exon_skip_106946_psi_boxplot.png |
ARID4A_LUAD_exon_skip_106946_psi_boxplot.png |
ARID4A_PRAD_exon_skip_106946_psi_boxplot.png |
ARID4A_READ_exon_skip_106946_psi_boxplot.png |
ARID4A_STAD_exon_skip_106946_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 |
| KIRP | TCGA-HE-7129-01 | exon_skip_106944 | 58827619 | 58827760 | 58827698 | 58827698 | Frame_Shift_Del | C | - | p.S673fs |
| STAD | TCGA-CG-5728-01 | exon_skip_106946 | 58830888 | 58832018 | 58830972 | 58830972 | Frame_Shift_Del | A | - | p.E722fs |
| STAD | TCGA-BR-8284-01 | exon_skip_106946 | 58830888 | 58832018 | 58831119 | 58831119 | Frame_Shift_Del | T | - | p.I771fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_106946 | 58830888 | 58832018 | 58831137 | 58831137 | Frame_Shift_Del | A | - | p.E777fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_106946 | 58830888 | 58832018 | 58831137 | 58831137 | Frame_Shift_Del | A | - | p.E777fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_106946 | 58830888 | 58832018 | 58831137 | 58831137 | Frame_Shift_Del | A | - | p.E777fs |
| READ | TCGA-EI-6882-01 | exon_skip_106946 | 58830888 | 58832018 | 58831137 | 58831137 | Frame_Shift_Del | A | - | p.E777fs |
| COAD | TCGA-A6-5661-01 | exon_skip_106946 | 58830888 | 58832018 | 58831406 | 58831406 | Frame_Shift_Del | A | - | p.E866fs |
| KICH | TCGA-KM-8442-01 | exon_skip_106946 | 58830888 | 58832018 | 58831996 | 58831997 | Frame_Shift_Del | AG | - | p.Q1063fs |
| STAD | TCGA-CG-5728-01 | exon_skip_106946 | 58830888 | 58832018 | 58831996 | 58831999 | Frame_Shift_Del | AGAG | - | p.1063_1064del |
| SKCM | TCGA-DA-A1HV-06 | exon_skip_106950 | 58833601 | 58833747 | 58833673 | 58833673 | Frame_Shift_Del | A | - | p.Y1199fs |
| SKCM | TCGA-DA-A1HV-06 | exon_skip_106950 | 58833601 | 58833747 | 58833673 | 58833673 | Frame_Shift_Del | A | - | p.Y1200fs |
| ACC | TCGA-OR-A5K0-01 | exon_skip_106950 | 58833601 | 58833747 | 58833675 | 58833676 | Frame_Shift_Del | TA | - | p.1199_1200del |
| ACC | TCGA-OR-A5K0-01 | exon_skip_106950 | 58833601 | 58833747 | 58833675 | 58833676 | Frame_Shift_Del | TA | - | p.Y1200fs |
| COAD | TCGA-G4-6320-01 | exon_skip_106950 | 58833601 | 58833747 | 58833719 | 58833719 | Frame_Shift_Del | A | - | p.R1214fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_106950 | 58833601 | 58833747 | 58833719 | 58833719 | Frame_Shift_Del | A | - | p.R1214fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_106950 | 58833601 | 58833747 | 58833728 | 58833728 | Frame_Shift_Del | A | - | p.L1217fs |
| LUAD | TCGA-55-7576-01 | exon_skip_106946 | 58830888 | 58832018 | 58830971 | 58830972 | Frame_Shift_Ins | - | A | p.E722fs |
| LUAD | TCGA-55-7576-01 | exon_skip_106946 | 58830888 | 58832018 | 58830971 | 58830972 | Frame_Shift_Ins | - | A | p.K722fs |
| STAD | TCGA-CD-8536-01 | exon_skip_106946 | 58830888 | 58832018 | 58831996 | 58831997 | Frame_Shift_Ins | - | AG | p.Q1063fs |
| READ | TCGA-AG-3605-01 | exon_skip_106939 | 58794955 | 58795034 | 58795000 | 58795000 | Nonsense_Mutation | C | T | p.Q210X |
| STAD | TCGA-BR-A4J2-01 | exon_skip_106939 | 58794955 | 58795034 | 58795012 | 58795012 | Nonsense_Mutation | C | T | p.R214* |
| STAD | TCGA-BR-A4J2-01 | exon_skip_106939 | 58794955 | 58795034 | 58795012 | 58795012 | Nonsense_Mutation | C | T | p.R214X |
| UCEC | TCGA-AP-A056-01 | exon_skip_106939 | 58794955 | 58795034 | 58795016 | 58795016 | Nonsense_Mutation | C | A | p.S215* |
| LUAD | TCGA-MN-A4N1-01 | exon_skip_106944 | 58827619 | 58827760 | 58827655 | 58827655 | Nonsense_Mutation | G | T | p.E659* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_106944 | 58827619 | 58827760 | 58827758 | 58827758 | Nonsense_Mutation | C | A | p.S693* |
| LGG | TCGA-DU-6392-01 | exon_skip_106946 | 58830888 | 58832018 | 58831193 | 58831193 | Nonsense_Mutation | C | T | p.R796* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_106946 | 58830888 | 58832018 | 58831391 | 58831391 | Nonsense_Mutation | C | T | p.Q862* |
| BLCA | TCGA-DK-A3IT-01 | exon_skip_106946 | 58830888 | 58832018 | 58831818 | 58831818 | Nonsense_Mutation | C | G | p.S1004* |
| STAD | TCGA-BR-8680-01 | exon_skip_106946 | 58830888 | 58832018 | 58831856 | 58831856 | Nonsense_Mutation | C | T | p.R1017* |
| STAD | TCGA-BR-8680-01 | exon_skip_106946 | 58830888 | 58832018 | 58831856 | 58831856 | Nonsense_Mutation | C | T | p.R1017X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DU-6392-01 |
| Cancer type: LGG | |
| ESID: exon_skip_106946 | |
| Skipped exon start: 58830888 | |
| Skipped exon end: 58832018 | |
| Mutation start: 58831193 | |
| Mutation end: 58831193 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R796* | |
exon_skip_106946_LGG_TCGA-DU-6392-01.png | |
exon_skip_114879_LGG_TCGA-DU-6392-01.png | |
exon_skip_120606_LGG_TCGA-DU-6392-01.png | |
exon_skip_130417_LGG_TCGA-DU-6392-01.png | |
exon_skip_138304_LGG_TCGA-DU-6392-01.png | |
exon_skip_143841_LGG_TCGA-DU-6392-01.png | |
exon_skip_143843_LGG_TCGA-DU-6392-01.png | |
exon_skip_145922_LGG_TCGA-DU-6392-01.png | |
exon_skip_155098_LGG_TCGA-DU-6392-01.png | |
exon_skip_26359_LGG_TCGA-DU-6392-01.png | |
exon_skip_290929_LGG_TCGA-DU-6392-01.png | |
exon_skip_297109_LGG_TCGA-DU-6392-01.png | |
exon_skip_33957_LGG_TCGA-DU-6392-01.png | |
exon_skip_343170_LGG_TCGA-DU-6392-01.png | |
exon_skip_354191_LGG_TCGA-DU-6392-01.png | |
exon_skip_367235_LGG_TCGA-DU-6392-01.png | |
exon_skip_423495_LGG_TCGA-DU-6392-01.png | |
exon_skip_423582_LGG_TCGA-DU-6392-01.png | |
exon_skip_430528_LGG_TCGA-DU-6392-01.png | |
exon_skip_432953_LGG_TCGA-DU-6392-01.png | |
exon_skip_436589_LGG_TCGA-DU-6392-01.png | |
exon_skip_438105_LGG_TCGA-DU-6392-01.png | |
exon_skip_438310_LGG_TCGA-DU-6392-01.png | |
exon_skip_442085_LGG_TCGA-DU-6392-01.png | |
exon_skip_481046_LGG_TCGA-DU-6392-01.png | |
exon_skip_484517_LGG_TCGA-DU-6392-01.png | |
exon_skip_502736_LGG_TCGA-DU-6392-01.png | |
exon_skip_512614_LGG_TCGA-DU-6392-01.png | |
exon_skip_7508_LGG_TCGA-DU-6392-01.png | |
exon_skip_7509_LGG_TCGA-DU-6392-01.png | |
exon_skip_79467_LGG_TCGA-DU-6392-01.png | |
exon_skip_85050_LGG_TCGA-DU-6392-01.png | |
exon_skip_95050_LGG_TCGA-DU-6392-01.png | |
exon_skip_95053_LGG_TCGA-DU-6392-01.png | |
 | Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_106946 | |
| Skipped exon start: 58830888 | |
| Skipped exon end: 58832018 | |
| Mutation start: 58831856 | |
| Mutation end: 58831856 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R1017X | |
| Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_106946 | |
| Skipped exon start: 58830888 | |
| Skipped exon end: 58832018 | |
| Mutation start: 58831856 | |
| Mutation end: 58831856 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R1017* | |
exon_skip_106946_STAD_TCGA-BR-8680-01.png | |
exon_skip_107215_STAD_TCGA-BR-8680-01.png | |
exon_skip_122567_STAD_TCGA-BR-8680-01.png | |
exon_skip_122573_STAD_TCGA-BR-8680-01.png | |
exon_skip_144294_STAD_TCGA-BR-8680-01.png | |
exon_skip_26878_STAD_TCGA-BR-8680-01.png | |
exon_skip_30156_STAD_TCGA-BR-8680-01.png | |
exon_skip_324648_STAD_TCGA-BR-8680-01.png | |
exon_skip_326437_STAD_TCGA-BR-8680-01.png | |
exon_skip_326558_STAD_TCGA-BR-8680-01.png | |
exon_skip_326569_STAD_TCGA-BR-8680-01.png | |
exon_skip_328488_STAD_TCGA-BR-8680-01.png | |
exon_skip_335090_STAD_TCGA-BR-8680-01.png | |
exon_skip_389166_STAD_TCGA-BR-8680-01.png | |
exon_skip_40432_STAD_TCGA-BR-8680-01.png | |
exon_skip_40460_STAD_TCGA-BR-8680-01.png | |
exon_skip_40461_STAD_TCGA-BR-8680-01.png | |
exon_skip_436498_STAD_TCGA-BR-8680-01.png | |
exon_skip_466512_STAD_TCGA-BR-8680-01.png | |
exon_skip_478774_STAD_TCGA-BR-8680-01.png | |
exon_skip_484956_STAD_TCGA-BR-8680-01.png | |
exon_skip_64135_STAD_TCGA-BR-8680-01.png | |
exon_skip_64136_STAD_TCGA-BR-8680-01.png | |
exon_skip_64137_STAD_TCGA-BR-8680-01.png | |
exon_skip_69365_STAD_TCGA-BR-8680-01.png | |
exon_skip_69375_STAD_TCGA-BR-8680-01.png | |
exon_skip_75101_STAD_TCGA-BR-8680-01.png | |
 | Sample: TCGA-A6-5661-01 |
| Cancer type: COAD | |
| ESID: exon_skip_106946 | |
| Skipped exon start: 58830888 | |
| Skipped exon end: 58832018 | |
| Mutation start: 58831406 | |
| Mutation end: 58831406 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E866fs | |
exon_skip_106946_COAD_TCGA-A6-5661-01.png | |
| - 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 |
| SNUC2B_LARGE_INTESTINE | 58833601 | 58833747 | 58833719 | 58833719 | Frame_Shift_Del | A | - | p.R1214fs |
| NCIH1435_LUNG | 58830888 | 58832018 | 58830971 | 58830972 | Frame_Shift_Ins | - | A | p.E722fs |
| WM793_SKIN | 58830888 | 58832018 | 58830971 | 58830972 | Frame_Shift_Ins | - | A | p.E722fs |
| GP2D_LARGE_INTESTINE | 58830888 | 58832018 | 58831136 | 58831137 | Frame_Shift_Ins | - | A | p.E777fs |
| GP5D_LARGE_INTESTINE | 58830888 | 58832018 | 58831136 | 58831137 | Frame_Shift_Ins | - | A | p.E777fs |
| NCIH889_LUNG | 58830888 | 58832018 | 58831136 | 58831137 | Frame_Shift_Ins | - | A | p.E777fs |
| EN_ENDOMETRIUM | 58830888 | 58832018 | 58831361 | 58831362 | Frame_Shift_Ins | - | A | p.E852fs |
| SNU1040_LARGE_INTESTINE | 58830888 | 58832018 | 58831405 | 58831406 | Frame_Shift_Ins | - | A | p.K867fs |
| KYSE450_OESOPHAGUS | 58830888 | 58832018 | 58831405 | 58831406 | Frame_Shift_Ins | - | A | p.K867fs |
| NCIH1299_LUNG | 58830888 | 58832018 | 58831405 | 58831406 | Frame_Shift_Ins | - | A | p.K867fs |
| SNU1272_KIDNEY | 58830888 | 58832018 | 58831405 | 58831406 | Frame_Shift_Ins | - | A | p.K867fs |
| HEC265_ENDOMETRIUM | 58830888 | 58832018 | 58831995 | 58831996 | Frame_Shift_Ins | - | AG | p.QE1063fs |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58832742 | 58832786 | 58832753 | 58832754 | Frame_Shift_Ins | - | A | p.D1110fs |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58832742 | 58832948 | 58832753 | 58832754 | Frame_Shift_Ins | - | A | p.D1110fs |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58794955 | 58795034 | 58794979 | 58794981 | In_Frame_Del | GAC | - | p.D203del |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58772740 | 58772830 | 58772759 | 58772759 | Missense_Mutation | C | T | p.T68I |
| HUO3N1_BONE | 58794955 | 58795034 | 58795001 | 58795001 | Missense_Mutation | A | G | p.Q210R |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58813129 | 58813223 | 58813158 | 58813158 | Missense_Mutation | G | T | p.G337C |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 58813129 | 58813223 | 58813162 | 58813162 | Missense_Mutation | A | C | p.Y338S |
| SNU719_STOMACH | 58813129 | 58813223 | 58813177 | 58813177 | Missense_Mutation | T | C | p.L343P |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58813738 | 58813835 | 58813786 | 58813787 | Missense_Mutation | CC | GT | p.P375V |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 58827619 | 58827760 | 58827628 | 58827628 | Missense_Mutation | G | C | p.D650H |
| SNU1040_LARGE_INTESTINE | 58827619 | 58827760 | 58827645 | 58827645 | Missense_Mutation | A | T | p.E655D |
| LS411N_LARGE_INTESTINE | 58827619 | 58827760 | 58827717 | 58827717 | Missense_Mutation | G | A | p.M679I |
| NCIH660_PROSTATE | 58830888 | 58832018 | 58830905 | 58830905 | Missense_Mutation | A | G | p.S700G |
| NB6_AUTONOMIC_GANGLIA | 58830888 | 58832018 | 58830963 | 58830963 | Missense_Mutation | A | G | p.D719G |
| SNU175_LARGE_INTESTINE | 58830888 | 58832018 | 58831016 | 58831016 | Missense_Mutation | C | T | p.P737S |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 58830888 | 58832018 | 58831058 | 58831058 | Missense_Mutation | C | A | p.Q751K |
| HMY1_SKIN | 58830888 | 58832018 | 58831166 | 58831166 | Missense_Mutation | G | A | p.E787K |
| HEC251_ENDOMETRIUM | 58830888 | 58832018 | 58831168 | 58831168 | Missense_Mutation | A | C | p.E787D |
| MM370_SKIN | 58830888 | 58832018 | 58831175 | 58831175 | Missense_Mutation | C | T | p.P790S |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58830888 | 58832018 | 58831251 | 58831251 | Missense_Mutation | A | T | p.N815I |
| CW2_LARGE_INTESTINE | 58830888 | 58832018 | 58831256 | 58831256 | Missense_Mutation | G | A | p.A817T |
| C33A_CERVIX | 58830888 | 58832018 | 58831376 | 58831376 | Missense_Mutation | C | T | p.R857W |
| A253_SALIVARY_GLAND | 58830888 | 58832018 | 58831416 | 58831416 | Missense_Mutation | G | C | p.R870T |
| JHUEM7_ENDOMETRIUM | 58830888 | 58832018 | 58831416 | 58831416 | Missense_Mutation | G | T | p.R870I |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 58830888 | 58832018 | 58831421 | 58831421 | Missense_Mutation | G | C | p.E872Q |
| SKNFI_AUTONOMIC_GANGLIA | 58830888 | 58832018 | 58831470 | 58831470 | Missense_Mutation | A | T | p.D888V |
| TE9_OESOPHAGUS | 58830888 | 58832018 | 58831520 | 58831520 | Missense_Mutation | G | C | p.E905Q |
| SNU175_LARGE_INTESTINE | 58830888 | 58832018 | 58831541 | 58831541 | Missense_Mutation | C | T | p.P912S |
| NCIBL1437_MATCHED_NORMAL_TISSUE | 58830888 | 58832018 | 58831560 | 58831560 | Missense_Mutation | C | T | p.S918L |
| NCIH2141_LUNG | 58830888 | 58832018 | 58831581 | 58831582 | Missense_Mutation | TG | CT | p.L925P |
| KMH2_THYROID | 58830888 | 58832018 | 58831627 | 58831627 | Missense_Mutation | T | G | p.I940M |
| CHP212_AUTONOMIC_GANGLIA | 58830888 | 58832018 | 58831788 | 58831788 | Missense_Mutation | C | G | p.A994G |
| NCIH1836_LUNG | 58830888 | 58832018 | 58831862 | 58831862 | Missense_Mutation | G | A | p.V1019I |
| HCC2998_LARGE_INTESTINE | 58830888 | 58832018 | 58831867 | 58831867 | Missense_Mutation | A | C | p.K1020N |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58830888 | 58832018 | 58831882 | 58831882 | Missense_Mutation | A | G | p.I1025M |
| HCC1171_LUNG | 58830888 | 58832018 | 58831983 | 58831983 | Missense_Mutation | G | T | p.S1059I |
| NCIH630_LARGE_INTESTINE | 58832742 | 58832948 | 58832877 | 58832877 | Missense_Mutation | G | C | p.G1151A |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58832742 | 58832948 | 58832881 | 58832881 | Missense_Mutation | G | T | p.E1152D |
| NB7_AUTONOMIC_GANGLIA | 58833601 | 58833747 | 58833705 | 58833705 | Missense_Mutation | A | G | p.I1210V |
| MEL202_EYE | 58833601 | 58833747 | 58833707 | 58833707 | Missense_Mutation | A | G | p.I1210M |
| JHUEM7_ENDOMETRIUM | 58830888 | 58832018 | 58830947 | 58830947 | Nonsense_Mutation | G | T | p.E714* |
| LXF289_LUNG | 58830888 | 58832018 | 58831454 | 58831454 | Nonsense_Mutation | C | T | p.Q883* |
| EW11_BONE | 58768298 | 58768408 | 58768299 | 58768299 | Splice_Site | C | T | p.A3V |
| NCIH128_LUNG | 58768298 | 58768408 | 58768299 | 58768299 | Splice_Site | C | T | p.A3V |
| NCIH378_LUNG | 58813129 | 58813223 | 58813222 | 58813222 | Splice_Site | A | G | p.N358S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58830888 | 58832018 | 58830888 | 58830888 | Splice_Site | A | G | p.D694G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARID4A |
| 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 ARID4A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARID4A |
Top |
RelatedDrugs for ARID4A |
| 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 ARID4A |
| 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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