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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 COL12A1 |
 Gene summary |
| Gene information | Gene symbol | COL12A1 | Gene ID | 1303 |
| Gene name | collagen type XII alpha 1 chain | |
| Synonyms | BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 | |
| Cytomap | 6q13-q14.1 | |
| Type of gene | protein-coding | |
| Description | collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q99715 | |
| Context | PubMed: COL12A1 [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 COL12A1 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 COL12A1 |
| 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 COL12A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460522 | 6 | 75794041:75795081:75797292:75797463:75798821:75798890 | 75797292:75797463 | ENSG00000111799.16 | ENST00000425443.2 |
| exon_skip_460524 | 6 | 75799825:75800014:75801038:75801105:75801205:75801241 | 75801038:75801105 | ENSG00000111799.16 | ENST00000345356.6,ENST00000425443.2,ENST00000511023.1,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460525 | 6 | 75801205:75801241:75804823:75804895:75806968:75807022 | 75804823:75804895 | ENSG00000111799.16 | ENST00000345356.6,ENST00000425443.2,ENST00000511023.1,ENST00000416123.2,ENST00000322507.8 |
| exon_skip_460527 | 6 | 75812312:75812408:75813472:75813526:75814921:75815008 | 75813472:75813526 | ENSG00000111799.16 | ENST00000345356.6,ENST00000425443.2,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460528 | 6 | 75813472:75813526:75814921:75815008:75816134:75816212 | 75814921:75815008 | ENSG00000111799.16 | ENST00000345356.6,ENST00000425443.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460531 | 6 | 75829065:75829189:75831017:75831157:75833045:75833120 | 75831017:75831157 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460532 | 6 | 75831017:75831157:75833045:75833120:75833663:75833810 | 75833045:75833120 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460533 | 6 | 75833663:75833810:75833970:75834087:75834842:75834989 | 75833970:75834087 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460536 | 6 | 75833970:75834087:75834842:75834989:75836066:75836186 | 75834842:75834989 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460537 | 6 | 75847152:75847295:75848035:75848056:75848163:75848296 | 75848035:75848056 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460541 | 6 | 75848163:75848296:75848537:75848677:75851747:75851877 | 75848537:75848677 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000419671.1,ENST00000322507.8 |
| exon_skip_460544 | 6 | 75855041:75855171:75855817:75855960:75857390:75857520 | 75855817:75855960 | ENSG00000111799.16 | ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000419671.1,ENST00000322507.8 |
| exon_skip_460550 | 6 | 75875222:75875495:75884753:75885026:75887378:75887651 | 75884753:75885026 | ENSG00000111799.16 | ENST00000416123.2,ENST00000483888.2,ENST00000322507.8 |
| exon_skip_460553 | 6 | 75904546:75904663:75912435:75912543:75915492:75915538 | 75912435:75912543 | ENSG00000111799.16 | ENST00000483888.2,ENST00000322507.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COL12A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460522 | 6 | 75794041:75795081:75797292:75797463:75798821:75798890 | 75797292:75797463 | ENSG00000111799.16 | ENST00000425443.2 |
| exon_skip_460524 | 6 | 75799825:75800014:75801038:75801105:75801205:75801241 | 75801038:75801105 | ENSG00000111799.16 | ENST00000425443.2,ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000511023.1 |
| exon_skip_460525 | 6 | 75801205:75801241:75804823:75804895:75806968:75807022 | 75804823:75804895 | ENSG00000111799.16 | ENST00000425443.2,ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000511023.1 |
| exon_skip_460527 | 6 | 75812312:75812408:75813472:75813526:75814921:75815008 | 75813472:75813526 | ENSG00000111799.16 | ENST00000425443.2,ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460528 | 6 | 75813472:75813526:75814921:75815008:75816134:75816212 | 75814921:75815008 | ENSG00000111799.16 | ENST00000425443.2,ENST00000322507.8,ENST00000345356.6,ENST00000483888.2 |
| exon_skip_460531 | 6 | 75829065:75829189:75831017:75831157:75833045:75833120 | 75831017:75831157 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460532 | 6 | 75831017:75831157:75833045:75833120:75833663:75833810 | 75833045:75833120 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460533 | 6 | 75833663:75833810:75833970:75834087:75834842:75834989 | 75833970:75834087 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460536 | 6 | 75833970:75834087:75834842:75834989:75836066:75836186 | 75834842:75834989 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460537 | 6 | 75847152:75847295:75848035:75848056:75848163:75848296 | 75848035:75848056 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460541 | 6 | 75848163:75848296:75848537:75848677:75851747:75851877 | 75848537:75848677 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000419671.1 |
| exon_skip_460544 | 6 | 75855041:75855171:75855817:75855960:75857390:75857520 | 75855817:75855960 | ENSG00000111799.16 | ENST00000322507.8,ENST00000345356.6,ENST00000416123.2,ENST00000483888.2,ENST00000419671.1 |
| exon_skip_460550 | 6 | 75875222:75875495:75884753:75885026:75887378:75887651 | 75884753:75885026 | ENSG00000111799.16 | ENST00000322507.8,ENST00000416123.2,ENST00000483888.2 |
| exon_skip_460553 | 6 | 75904546:75904663:75912435:75912543:75915492:75915538 | 75912435:75912543 | ENSG00000111799.16 | ENST00000322507.8,ENST00000483888.2 |
| 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 COL12A1 |
| 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 |
| ENST00000322507 | 75912435 | 75912543 | 3UTR-3CDS |
| ENST00000322507 | 75801038 | 75801105 | Frame-shift |
| ENST00000322507 | 75831017 | 75831157 | Frame-shift |
| ENST00000322507 | 75848537 | 75848677 | Frame-shift |
| ENST00000322507 | 75855817 | 75855960 | Frame-shift |
| ENST00000322507 | 75804823 | 75804895 | In-frame |
| ENST00000322507 | 75813472 | 75813526 | In-frame |
| ENST00000322507 | 75814921 | 75815008 | In-frame |
| ENST00000322507 | 75833045 | 75833120 | In-frame |
| ENST00000322507 | 75833970 | 75834087 | In-frame |
| ENST00000322507 | 75834842 | 75834989 | In-frame |
| ENST00000322507 | 75848035 | 75848056 | In-frame |
| ENST00000322507 | 75884753 | 75885026 | 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 |
| ENST00000322507 | 75912435 | 75912543 | 3UTR-3CDS |
| ENST00000322507 | 75801038 | 75801105 | Frame-shift |
| ENST00000322507 | 75831017 | 75831157 | Frame-shift |
| ENST00000322507 | 75848537 | 75848677 | Frame-shift |
| ENST00000322507 | 75855817 | 75855960 | Frame-shift |
| ENST00000322507 | 75804823 | 75804895 | In-frame |
| ENST00000322507 | 75813472 | 75813526 | In-frame |
| ENST00000322507 | 75814921 | 75815008 | In-frame |
| ENST00000322507 | 75833045 | 75833120 | In-frame |
| ENST00000322507 | 75833970 | 75834087 | In-frame |
| ENST00000322507 | 75834842 | 75834989 | In-frame |
| ENST00000322507 | 75848035 | 75848056 | In-frame |
| ENST00000322507 | 75884753 | 75885026 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COL12A1 |
| 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 |
| ENST00000322507 | 11740 | 3063 | 75884753 | 75885026 | 2748 | 3020 | 812 | 903 |
| ENST00000322507 | 11740 | 3063 | 75834842 | 75834989 | 6771 | 6917 | 2153 | 2202 |
| ENST00000322507 | 11740 | 3063 | 75833970 | 75834087 | 6918 | 7034 | 2202 | 2241 |
| ENST00000322507 | 11740 | 3063 | 75833045 | 75833120 | 7182 | 7256 | 2290 | 2315 |
| ENST00000322507 | 11740 | 3063 | 75814921 | 75815008 | 8489 | 8575 | 2726 | 2755 |
| ENST00000322507 | 11740 | 3063 | 75813472 | 75813526 | 8576 | 8629 | 2755 | 2773 |
| ENST00000322507 | 11740 | 3063 | 75804823 | 75804895 | 8888 | 8959 | 2859 | 2883 |
| 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 |
| ENST00000322507 | 11740 | 3063 | 75884753 | 75885026 | 2748 | 3020 | 812 | 903 |
| ENST00000322507 | 11740 | 3063 | 75834842 | 75834989 | 6771 | 6917 | 2153 | 2202 |
| ENST00000322507 | 11740 | 3063 | 75833970 | 75834087 | 6918 | 7034 | 2202 | 2241 |
| ENST00000322507 | 11740 | 3063 | 75833045 | 75833120 | 7182 | 7256 | 2290 | 2315 |
| ENST00000322507 | 11740 | 3063 | 75814921 | 75815008 | 8489 | 8575 | 2726 | 2755 |
| ENST00000322507 | 11740 | 3063 | 75813472 | 75813526 | 8576 | 8629 | 2755 | 2773 |
| ENST00000322507 | 11740 | 3063 | 75804823 | 75804895 | 8888 | 8959 | 2859 | 2883 |
| 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 |
| Q99715 | 812 | 903 | 25 | 1188 | Alternative sequence | ID=VSP_001149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9143499;Dbxref=PMID:9143499 |
| Q99715 | 812 | 903 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 812 | 903 | 725 | 816 | Domain | Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 812 | 903 | 817 | 905 | Domain | Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 812 | 903 | 889 | 889 | Glycosylation | Note=O-linked (Xyl...) (chondroitin sulfate) serine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99715 | 812 | 903 | 862 | 864 | Motif | Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99715 | 812 | 903 | 813 | 813 | Sequence conflict | Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99715 | 2153 | 2202 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2153 | 2202 | 2118 | 2206 | Domain | Note=Fibronectin type-III 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2153 | 2202 | 2160 | 2160 | Natural variant | ID=VAR_048770;Note=E->V;Dbxref=dbSNP:rs35523808 |
| Q99715 | 2202 | 2241 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2202 | 2241 | 2118 | 2206 | Domain | Note=Fibronectin type-III 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2202 | 2241 | 2207 | 2294 | Domain | Note=Fibronectin type-III 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2202 | 2241 | 2206 | 2206 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99715 | 2290 | 2315 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2290 | 2315 | 2207 | 2294 | Domain | Note=Fibronectin type-III 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2726 | 2755 | 2651 | 2726 | Alternative sequence | ID=VSP_024942;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99715 | 2726 | 2755 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2726 | 2755 | 2747 | 2798 | Domain | Note=Collagen-like 1 |
| Q99715 | 2726 | 2755 | 2451 | 2746 | Region | Note=Nonhelical region (NC3) |
| Q99715 | 2726 | 2755 | 2747 | 2898 | Region | Note=Triple-helical region (COL2) with 1 imperfection |
| Q99715 | 2755 | 2773 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2755 | 2773 | 2747 | 2798 | Domain | Note=Collagen-like 1 |
| Q99715 | 2755 | 2773 | 2747 | 2898 | Region | Note=Triple-helical region (COL2) with 1 imperfection |
| Q99715 | 2859 | 2883 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2859 | 2883 | 2853 | 2898 | Domain | Note=Collagen-like 3 |
| Q99715 | 2859 | 2883 | 2747 | 2898 | Region | Note=Triple-helical region (COL2) with 1 imperfection |
| 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 |
| Q99715 | 812 | 903 | 25 | 1188 | Alternative sequence | ID=VSP_001149;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9143499;Dbxref=PMID:9143499 |
| Q99715 | 812 | 903 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 812 | 903 | 725 | 816 | Domain | Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 812 | 903 | 817 | 905 | Domain | Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 812 | 903 | 889 | 889 | Glycosylation | Note=O-linked (Xyl...) (chondroitin sulfate) serine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99715 | 812 | 903 | 862 | 864 | Motif | Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99715 | 812 | 903 | 813 | 813 | Sequence conflict | Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99715 | 2153 | 2202 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2153 | 2202 | 2118 | 2206 | Domain | Note=Fibronectin type-III 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2153 | 2202 | 2160 | 2160 | Natural variant | ID=VAR_048770;Note=E->V;Dbxref=dbSNP:rs35523808 |
| Q99715 | 2202 | 2241 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2202 | 2241 | 2118 | 2206 | Domain | Note=Fibronectin type-III 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2202 | 2241 | 2207 | 2294 | Domain | Note=Fibronectin type-III 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2202 | 2241 | 2206 | 2206 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99715 | 2290 | 2315 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2290 | 2315 | 2207 | 2294 | Domain | Note=Fibronectin type-III 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| Q99715 | 2726 | 2755 | 2651 | 2726 | Alternative sequence | ID=VSP_024942;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99715 | 2726 | 2755 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2726 | 2755 | 2747 | 2798 | Domain | Note=Collagen-like 1 |
| Q99715 | 2726 | 2755 | 2451 | 2746 | Region | Note=Nonhelical region (NC3) |
| Q99715 | 2726 | 2755 | 2747 | 2898 | Region | Note=Triple-helical region (COL2) with 1 imperfection |
| Q99715 | 2755 | 2773 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2755 | 2773 | 2747 | 2798 | Domain | Note=Collagen-like 1 |
| Q99715 | 2755 | 2773 | 2747 | 2898 | Region | Note=Triple-helical region (COL2) with 1 imperfection |
| Q99715 | 2859 | 2883 | 24 | 3063 | Chain | ID=PRO_0000005783;Note=Collagen alpha-1(XII) chain |
| Q99715 | 2859 | 2883 | 2853 | 2898 | Domain | Note=Collagen-like 3 |
| Q99715 | 2859 | 2883 | 2747 | 2898 | Region | Note=Triple-helical region (COL2) with 1 imperfection |
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SNVs in the skipped exons for COL12A1 |
| - 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. |
COL12A1_COAD_exon_skip_460550_psi_boxplot.png |
COL12A1_STAD_exon_skip_460550_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 |
| STAD | TCGA-BR-6452-01 | exon_skip_460522 | 75797293 | 75797463 | 75797397 | 75797397 | Frame_Shift_Del | G | - | p.P3026fs |
| STAD | TCGA-BR-8591-01 | exon_skip_460522 | 75797293 | 75797463 | 75797397 | 75797397 | Frame_Shift_Del | G | - | p.P3026fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_460522 | 75797293 | 75797463 | 75797406 | 75797406 | Frame_Shift_Del | G | - | p.P3023fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_460522 | 75797293 | 75797463 | 75797406 | 75797406 | Frame_Shift_Del | G | - | p.P3023fs |
| LUAD | TCGA-55-8085-01 | exon_skip_460525 | 75804824 | 75804895 | 75804857 | 75804857 | Frame_Shift_Del | C | - | p.G2872fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_460528 | 75814922 | 75815008 | 75814982 | 75814982 | Frame_Shift_Del | A | - | p.F2735fs |
| COAD | TCGA-AU-6004-01 | exon_skip_460532 | 75833046 | 75833120 | 75833072 | 75833072 | Frame_Shift_Del | G | - | p.P1143fs |
| STAD | TCGA-B7-5818-01 | exon_skip_460532 | 75833046 | 75833120 | 75833113 | 75833113 | Frame_Shift_Del | T | - | p.K2293fs |
| STAD | TCGA-B7-5818-01 | exon_skip_460532 | 75833046 | 75833120 | 75833113 | 75833113 | Frame_Shift_Del | T | - | p.P2294fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_460533 | 75833971 | 75834087 | 75833983 | 75833983 | Frame_Shift_Del | T | - | p.S2238fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460533 | 75833971 | 75834087 | 75833987 | 75833987 | Frame_Shift_Del | T | - | p.K2236fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460533 | 75833971 | 75834087 | 75834013 | 75834013 | Frame_Shift_Del | G | - | p.R2228fs |
| COAD | TCGA-D5-6540-01 | exon_skip_460550 | 75884754 | 75885026 | 75884903 | 75884903 | Frame_Shift_Del | C | - | p.G854fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_460550 | 75884754 | 75885026 | 75884903 | 75884903 | Frame_Shift_Del | C | - | p.G854fs |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_460550 | 75884754 | 75885026 | 75884903 | 75884903 | Frame_Shift_Del | C | - | p.G854fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_460550 | 75884754 | 75885026 | 75884955 | 75884955 | Frame_Shift_Del | C | - | p.A837fs |
| STAD | TCGA-CG-4306-01 | exon_skip_460522 | 75797293 | 75797463 | 75797396 | 75797397 | Frame_Shift_Ins | - | G | p.P3026fs |
| STAD | TCGA-CG-4306-01 | exon_skip_460522 | 75797293 | 75797463 | 75797397 | 75797398 | Frame_Shift_Ins | - | G | p.P3026fs |
| STAD | TCGA-CG-5727-01 | exon_skip_460522 | 75797293 | 75797463 | 75797371 | 75797371 | Nonsense_Mutation | G | A | p.R3035* |
| STAD | TCGA-CG-5727-01 | exon_skip_460522 | 75797293 | 75797463 | 75797371 | 75797371 | Nonsense_Mutation | G | A | p.R3035X |
| UCEC | TCGA-AP-A051-01 | exon_skip_460522 | 75797293 | 75797463 | 75797371 | 75797371 | Nonsense_Mutation | G | A | p.R3035* |
| LUAD | TCGA-78-7539-01 | exon_skip_460525 | 75804824 | 75804895 | 75804895 | 75804895 | Nonsense_Mutation | C | A | p.G2860* |
| ESCA | TCGA-R6-A8WC-01 | exon_skip_460531 | 75831018 | 75831157 | 75831041 | 75831041 | Nonsense_Mutation | C | A | p.E2355* |
| ESCA | TCGA-R6-A8WC-01 | exon_skip_460531 | 75831018 | 75831157 | 75831041 | 75831041 | Nonsense_Mutation | C | A | p.E2355X |
| UCEC | TCGA-AP-A056-01 | exon_skip_460550 | 75884754 | 75885026 | 75884892 | 75884892 | Nonsense_Mutation | C | A | p.E858* |
| STAD | TCGA-CD-8530-01 | exon_skip_460522 | 75797293 | 75797463 | 75797464 | 75797464 | Splice_Site | C | T | . |
| STAD | TCGA-CD-8530-01 | exon_skip_460522 | 75797293 | 75797463 | 75797464 | 75797464 | Splice_Site | C | T | p.G3004_splice |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_460531 | 75831018 | 75831157 | 75831017 | 75831017 | Splice_Site | C | T | e43+1 |
| STAD | TCGA-HU-A4GT-01 | exon_skip_460550 | 75884754 | 75885026 | 75884752 | 75884752 | Splice_Site | A | G | p.E904_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D5-6540-01 |
| Cancer type: COAD | |
| ESID: exon_skip_460550 | |
| Skipped exon start: 75884754 | |
| Skipped exon end: 75885026 | |
| Mutation start: 75884903 | |
| Mutation end: 75884903 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G854fs | |
exon_skip_149086_COAD_TCGA-D5-6540-01.png | |
exon_skip_32368_COAD_TCGA-D5-6540-01.png | |
exon_skip_32369_COAD_TCGA-D5-6540-01.png | |
exon_skip_366741_COAD_TCGA-D5-6540-01.png | |
exon_skip_4028_COAD_TCGA-D5-6540-01.png | |
exon_skip_421552_COAD_TCGA-D5-6540-01.png | |
exon_skip_460550_COAD_TCGA-D5-6540-01.png | |
exon_skip_462427_COAD_TCGA-D5-6540-01.png | |
exon_skip_490897_COAD_TCGA-D5-6540-01.png | |
exon_skip_57346_COAD_TCGA-D5-6540-01.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 |
| SKUT1_SOFT_TISSUE | 75797293 | 75797463 | 75797397 | 75797397 | Frame_Shift_Del | G | - | p.P3026fs |
| KON_UPPER_AERODIGESTIVE_TRACT | 75848538 | 75848677 | 75848547 | 75848547 | Frame_Shift_Del | A | - | p.D1696fs |
| 22RV1_PROSTATE | 75884754 | 75885026 | 75884903 | 75884903 | Frame_Shift_Del | C | - | p.G854fs |
| HEC151_ENDOMETRIUM | 75884754 | 75885026 | 75884903 | 75884903 | Frame_Shift_Del | C | - | p.G854fs |
| NCIH520_LUNG | 75797293 | 75797463 | 75797352 | 75797352 | Missense_Mutation | G | A | p.P3041L |
| SKNFI_AUTONOMIC_GANGLIA | 75797293 | 75797463 | 75797352 | 75797352 | Missense_Mutation | G | A | p.P3041L |
| NCIH446_LUNG | 75797293 | 75797463 | 75797425 | 75797425 | Missense_Mutation | T | C | p.T3017A |
| MERO83_LUNG | 75797293 | 75797463 | 75797436 | 75797436 | Missense_Mutation | G | A | p.P3013L |
| M14_SKIN | 75797293 | 75797463 | 75797454 | 75797454 | Missense_Mutation | C | T | p.G3007E |
| MDAMB435S_SKIN | 75797293 | 75797463 | 75797454 | 75797454 | Missense_Mutation | C | T | p.G3007E |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75801039 | 75801105 | 75801074 | 75801074 | Missense_Mutation | G | T | p.A2906E |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75801039 | 75801105 | 75801077 | 75801077 | Missense_Mutation | C | T | p.R2905Q |
| DU145_PROSTATE | 75804824 | 75804895 | 75804861 | 75804861 | Missense_Mutation | C | T | p.S2871N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 75831018 | 75831157 | 75831034 | 75831034 | Missense_Mutation | C | T | p.S2357N |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75831018 | 75831157 | 75831069 | 75831069 | Missense_Mutation | G | T | p.F2345L |
| LS411N_LARGE_INTESTINE | 75833971 | 75834087 | 75834012 | 75834012 | Missense_Mutation | C | T | p.R2228Q |
| LS411N_LARGE_INTESTINE | 75834843 | 75834989 | 75834906 | 75834906 | Missense_Mutation | C | T | p.V2182M |
| HT115_LARGE_INTESTINE | 75834843 | 75834989 | 75834956 | 75834956 | Missense_Mutation | T | G | p.E2165A |
| SNU1040_LARGE_INTESTINE | 75848538 | 75848677 | 75848567 | 75848567 | Missense_Mutation | C | T | p.A1690T |
| ES7_BONE | 75848538 | 75848677 | 75848569 | 75848569 | Missense_Mutation | C | A | p.W1689L |
| SNU1040_LARGE_INTESTINE | 75848538 | 75848677 | 75848660 | 75848660 | Missense_Mutation | T | C | p.T1659A |
| LC1F_LUNG | 75884754 | 75885026 | 75884804 | 75884804 | Missense_Mutation | T | C | p.Y887C |
| LC1SQSF_LUNG | 75884754 | 75885026 | 75884804 | 75884804 | Missense_Mutation | T | C | p.Y887C |
| LC1SQ_LUNG | 75884754 | 75885026 | 75884804 | 75884804 | Missense_Mutation | T | C | p.Y887C |
| SCS214_SOFT_TISSUE | 75884754 | 75885026 | 75884877 | 75884877 | Missense_Mutation | C | T | p.G863R |
| OVCA433_OVARY | 75884754 | 75885026 | 75884963 | 75884963 | Missense_Mutation | C | G | p.W834S |
| NCIH1694_LUNG | 75884754 | 75885026 | 75885015 | 75885015 | Missense_Mutation | G | T | p.P817T |
| MDAMB361_BREAST | 75834843 | 75834989 | 75834891 | 75834891 | Nonsense_Mutation | G | A | p.Q2187* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 75804824 | 75804895 | 75804824 | 75804824 | Splice_Site | T | A | p.P2883P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL12A1 |
| 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 COL12A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL12A1 |
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RelatedDrugs for COL12A1 |
| 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 COL12A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COL12A1 | C4225313 | BETHLEM MYOPATHY 2 | 2 | UNIPROT |
| COL12A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| COL12A1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
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